Follicular occlusion triad (FOT) is an autosomal recessive inherited disease and no more than 3 variants of the triad have been reported. We give a report in which scrotal elephantiasis is a variant of FOT and further perform a literature review.A 41-year-old man came to us because of a large scrotal cyst and generalized skin lesions that had occurred over the past 10 years. The generalized skin lesions consisted of hidradenitis suppurativa on the perineum and back, acne conglobata in the armpit, and dissecting cellulitis of the scalp. He took antibiotics for a long time but achieved poor effect. Furthermore, he told his father and elder brother also manifested such skin lesions.9/L and a hemoglobin content of 78 g/L. C-reactive-protein increased. Series of autoimmune antibody tests were negative. The postoperative pathologic findings showed that the mass was an epidermoid cyst, and hematoxylin and eosin staining showed hyperkeratosis of the skin as well as inflammatory and edematous changes. A diagnosis of a variant of FOT was made.Magnetic resonance showed a mass in the left scrotum with clear boundaries. A routine blood test showed a high leukocyte level of 12 × 10We removed skin abscesses and lesioned the inner part with hydrogen peroxide. Then we performed an excision of the scrotal lesion.The patient recovered well and had no evidence of recurrence at a 16-month follow-up.We reported a case in which scrotal elephantiasis was a variant of FOT and surgical intervention played an important role in secondary urologic diseases. FOT can frequently involve inguinogenital areas, and it may lead to various kinds of urologic diseases, such as scrotal elephantiasis, urinary leakage, and penis disfigurement. Unfortunately, there are no effective therapeutic methods for FOT, and the mechanisms of secondary urologic diseases are also unclear. To identify the relationship between FOT and urologic disease, we report a case in which scrotal elephantiasis is a variant of FOT; additionally, we reviewed the related literature.Urologic diseases have a close relationship with follicular occlusion triad (FOT). FOT is a rare disease that manifests as 3 symptoms that occur in a single organism at the same time, including hidradenitis suppurativa (HS), acne conglobata (AC), and dissecting cellulitis of the scalp.22.1Our case study was approved by Qilu Hospital Review Board and was accordant with Helsinki II declaration. The patient also gave written informed consent for publication.2.29/L and a hemoglobin content of 78 g/L. C-reactive-protein increased. We also performed a series of autoimmune antibody tests, and all the results were negative. He refused any genetic test.A 41-year-old man came to us because of a large scrotal cyst and generalized skin lesions that had occurred over the past 10 years. The generalized skin lesions consisted of HS on the perineum and back  staining showed hyperkeratosis of the skin as well as inflammatory and edematous changes Fig. A, B. Unt3 The lesion process initially manifests as hair follicle obstruction, giving rise to deep folliculitis, abscess, partial sinus, and scarring of the skin. Boer and Weltevreden pointed out the pilosebaceous unit was the primary occlusion site and that any apocrine ductal occlusion was secondary, and any site containing follicles could be affected. There were several reports of scrotal elephantiasis with longstanding HS. To our knowledge, there have been no reports of scrotal elephantiasis with FOT. Over the past few years, several cases of some variants of FOT have been reported.,5 Gandhi et al presented a case of FOT associated with reticulate pigmentary disorder in 2013. Coincidentally, the man in our case had a similar symptom of reticulate pigmentary disorder in his perineum and buttocks. Meyers et al presented a rare case with an extensive cluster of exophytic nodules that developed on his chin, which was also a variant of FOT. We believe the difference between his and our case lies in the distribution region of FOT. There were a large number of sebaceous glands in the scrotum and chin, leading to a high prevalence of FOT. Several professionals pointed out that the presence of bacterial infection was secondary.,7 We performed several microbial cultivations from skin lesions and from the scrotal cyst during the patient's hospitalization. There were almost no pathogenic bacteria cultivated at the start of treatment. We believed this lack of bacteria was because of the short-term disease course and the active treatments adopted.The FOT was documented in a single patient by Chicarilli in 1987.,9 But there remain no effective drugs. In consideration of our case, antibiotics, isotretinoin, and finasteride were ineffective for the patient; we had to give him a treatment with oral zinc, and we achieved optimistic feedback. This outcome supported Kobayashi's view of the oral zinc therapy. We performed a simple debridement to avoid secondary infection and an excision of the scrotal lesion to thoroughly resolve the patient's discomfort. Many experts thought of the triad as a kind of autosomal recessive inherited disease. Wang et al pointed out that γ-secretase gene mutation was the main mechanism, and their findings were published in SCIENCE ). Thus therapeutic methods at the molecular genetic level should be further researched in the future.Worldwide, there are almost no effective therapeutic methods for FOT. Early diagnosis and timely surgical treatment play key roles in the triad. Many clinical experts have shared their treatment experiences in published papers. Corresponding urogenital diseases may have similar mechanism both in the reviewed cases above and our cases. Each patient's treatment and prognosis are summarized in Table ,11–17 Timely surgical intervention is necessary to achieve good prognosis for secondary urogenital diseases.Scrotal elephantiasis has not been previously reported to occur with FOT but has always occurred with HS. We retrospectively reviewed the English literature concerning urogenital diseases and HS in Medline, PubMed, and Web of Science, yielding 9 reported cases. These reviewed literatures may broaden our horizon for treatment of such scrotal elephantiasis in our case. It is because that such scrotal elephantiasis in our case may be due to longstanding HS. On the contrary, disorders of FOT  posed similar pathogenic and histologic features.In conclusion, we gave a report in which scrotal elephantiasis was a variant of FOT. Surgical intervention plays an important role in secondary urogenital diseases, and therapeutic methods at the molecular genetic level should be researched in the future.XZJ carried out the design and revision of this study. HFZ and CX took part in the operation and collected clinical data. JCL collected pathological information. JCL and XGL drafted the manuscript. All authors have read and approved the final version of the manuscript, and agreed with the order of presentation of the authors.Conceptualization: Xian-Zhou Jiang.Data curation: Jing-Chao Liu, Chao Xu, Hai-Feng Zhao.Formal analysis: Hai-Feng Zhao.Investigation: Hai-Feng Zhao.Project administration: Xian-Zhou Jiang.Writing – original draft: Xi-Gao Liu, Jing-Chao Liu.Writing – review & editing: Jing-Chao Liu.


This case highlights the challenges of preoperative differential diagnosis and management in a patient with an uncommon clinical presentation of giant intrathoracic teratoma. The age of the patient, location and size of the tumor, and clinical presentation makes this case unique. Typically, intrathoracic teratomas are found between the ages of 20–30, they are located in the anterior mediastinum, and tumors larger than 25 cm clinically present with cough or dysphagia.A giant intrathoracic teratoma presents in a 51-year-old female as a mid to posterior mediastinal mass compressing the whole left lung with symptoms of depression, anorexia, unintentional weight loss, and cachexia. Due to her severe deconditioning she was optimized for 1 month in a skilled nursing facility with aggressive physical therapy and enteral nutrition. She underwent left thoracotomy with complete resection of the tumor. In follow up her BMI had improved, and she was regaining strength.Complete resection was achieved via left thoracotomy after aggressive rehabilitation. Mature mediastinal teratomas are infrequent, slow growing, and often asymptomatic. Traditionally they present in the fourth decade or earlier and are found in the anterior mediastinum. These teratomas are often found incidentally on imaging and surgical resection can be a challenge due to the size and location of the tumor; however, complete surgical excision is usually curative.A 50-year-old-Caucasian-female with 20-pack smoking years presented with a history of anorexia, lethargy, unintentional weight loss, and depression. Auscultation revealed absent air entry on the left chest. Laboratory workup demonstrated severe iron-deficiency anemia, low albumin, and normal serum alpha-fetoprotein (AFP) and beta-hCG. Pre-operative LDH was not included due to the low suspicion of nonseminomatous dysembryoma or lymphoma.Chest X-ray and computed-tomography revealed a left-thoracic heterogeneously dense 20x25cm mass compressing the heart and lung with a major mediastinal shift Figs.  and 2. AA preoperative clinical diagnosis of mediastinal teratoma was entertained. Her BMI on admission was 18.4 and she had a Karnofsky performance scale index between 10 and 20. Because of the severe deconditioned status of the patient and cachexia she was put on enteral feeding and sent to a rehabilitation program for 3 weeks. Thereafter the patient underwent left lateral thoracotomy and complete resection of the mediastinal tumor. Lateral thoracotomy was preferred over median sternotomy in this case because the mass did not cross midline and it extended below the level of the pulmonary hilum. A thoracotomy incision is standard approach to a middle or posterior mediastinal mass , 7. IntrMacroscopic examination demonstrated yellow pasty-material with teratomatous components including hair and skin Fig. . HistoloThe patient required prolonged chest tube drainage to allow for shift of the mediastinum and expansion of the chronically atelectatic lung. She continued physical therapy and enteral feeding supplementation due to severe deconditioning. There were no complications and she was discharged on the 17th postoperative day. At the first follow-up appointment 18 days after discharge she was regaining weight and strength without any clinical evidence of recurrence. Her BMI had increased from 18.4 to 21, and her Karnofsky performance scale index was between 80 and 90, quickly approaching 100. She was scheduled again for follow up in 2 months.Some rarities of this case require consideration, specifically the older age of our patient, the location and size of the tumor, and the uncommon clinical presentation. While they usually occur equally across gender and more frequently in children and young adults , our patThymomas and lymphomas are usually the most frequently occurring neoplasm of the anterior mediastinum while germ cell tumors represent 15% of anterior mediastinal masses. The tumor in our patient was found in the mid to posterior mediastinum. Teratomas are most frequently located within the gonads but can also be found in other regions and have been found in the mediastinum concomitantly [With advanced disease, symptoms are often a result of compression/obstruction of surrounding organs and can include chest discomfort, dyspnea, cough, dysphagia, and rarely expectoration of hair or sebum . DigestiThe work-up for teratomas is predominantly radiographic . Chest xMarkers such as AFP and beta-hCG are typically within reference range in benign teratomas but can be produced in high levels by malignant embryonal tumors . SystemiComplete surgical excision is almost indefinitely curative for mature mediastinal teratomas. Means of resection include median sternotomy, thoracotomy, or video-assisted thoracoscopic surgery. Subtotal resection can relieve symptoms if complete resection cannot be achieved . SurgicaAgain, the age of the patient, location and size of the tumor, and clinical presentation makes this case unique. These tumors are generally benign; however, with advanced disease they can present with compressive symptoms. Radiologic and laboratory workup can support a preoperative diagnosis of teratoma. Surgical excision is frequently curative and, in our patient, complete resection was achieved via left thoracotomy after aggressive rehabilitation.


Schwannomas are benign, encapsulated neurogenic tumors which present in diverse histological subtypes despite the limited variety of their cellular constituents. These include the cellular, ancient, cystic, epithelioid, melanotic, psammomatous, schwannoma with pseudoglandular elements, and plexiform varieties. The plexiform schwannoma (PS) represents 4.3% of all schwannomas. These lesions are commonly encountered in the head and neck region and are extremely rare in the penis. To the best of our knowledge only 34 cases of penile schwannomas have been reported and this is the 3rd case of plexiform penile schwannoma. A 39-year-old patient presented to our andrology outpatient clinic complaining for two painful penile nodules. The lesions were located on the dorsum of the penile shaft. His medical history was insignificant for penile trauma and sexual transmitted diseases. The masses measured 2x1 cm and 0.5x1 cm. After sonographic and magnetic resonance evaluation the patient was admitted to theatre and underwent topical resection of the lesions. Histopathology revealed plexiform schwannoma. Postoperatively, penile tenderness and hyperesthesia ensued which was managed with pregabalin administration and topical corticosteroids. Plexiform schwannomas are rare in the penile region. Surgical excision is inevitably the only way to diagnose and treat the lesions. They must be differentiated by a variety of malignant and benign clinical conditions. Topical excision suffices for oncological control and allows for acceptable functional outcomes. Plexiform schwannomas (PS) represent a rare subtype of schwannomas. External genitalia are a relatively unusual landing location for this type of lesions and can pose a diagnostic and therapeutic challenge. We hereby report the case of a 39-year-old patient with penile PS, its diagnostic approach, and definitive treatment.Schwannomas are benign, encapsulated neurogenic tumors originating from the Schwann cells of the peripheral nerve sheath . PlexifoAlthough their benign behavior is a fundamental feature of PS they can easily be confused with plexiform neurofibromas. The latter are pathognomonic of Von Recklinghausen's disease and have malignant potential , 6.Plexiform schwannomas on the contrary can occur even in the absence of Von Reckligausen's genotype and malignant transformation has never been described .A 39-year-old patient presented to our andrology clinic complaining of two gradually enlarging penile lumps. The lesions were located on the dorsum of the penile shaft having enlarged within a 2-year period. He complained of mild dorsal deviation of the shaft on erection and reported occasional pain during intercourse. He had not had any history of penile trauma or any sexually transmitted disease. Clinically, two distinct, soft, and painless nodules with a smooth contour could be identified on the dorsum of the penis. They were not fixed in place, yet not completely mobile . ArtificThe larger and peripherally located lesion was removed via a 2 cm dorsal midline shaft incision under local anesthetic infiltration and penile block. The incision was restricted to the dorsal shaft without the need for circumcision. Macroscopically, the specimen appeared to be a 2.3cm spindle-shaped, elastic mass . In crosPostoperatively, there was tenderness of the dorsal shaft and granular hyperesthesia with intermittent tingling and burning sensation. The symptoms attenuated after 6 months upon administration of low dose oral pregabalin and topical corticosteroids. This combination treatment was deemed necessary after the initial failure of simple analgesics for the relief of the neuropathic penile pain resulting from surgery and postop scarring. The patient returned to his preoperative sexual status at 6 months after the operation and upon resolution of his numbness and dysesthesia.Nine months after the removal of the first lesion the patient underwent excision of the second and more proximal lesion. It was less mobile and firmly attached to the neurovascular bundle and due to its proximal position was marginally out of the area covered by the penile block. It was removed under general anesthesia. Histology confirmed multifocal PS and due to its firm attachment to the neurovascular bundle the patient experienced dysesthesia of the glans and developed a dorsal cicatricial band causing discomfort during erection. Once again it was treated with pregabalin and long-term topical steroids with slow improvement.Harkin et al. reported the first 6 cases of plexiform schwannoma in 1978 and distinguished them from plexiform neurofibroma .Penile plexiform schwannomas are extraordinarily rare with only 2 cases having been identified so far out of the 34 published cases of penile schwannomas. Recently, in 2017, Kumar U et al. reported an uncommon presentation of sizeable penile schwannoma mimicking a scrotal mass in a 16-year-old boy .Despite considered painless, penile schwannomas have been associated with painful intercourse, erectile dysfunction, and penile curvature. DiffereMalignant peripheral nerve sheath tumors (MPNST) have been described in the penis and require wide excision due to their risk of recurrence and their aggressive behavior , 12. AltSexual dysfunction is the patient's primary concern and should be taken into consideration in the decision making. However, extensive surgery such as penectomy may be required in patients with advanced malignant disease along with adjuvant radiotherapy , 11, 12.


Crystal deposit disease is a rare disorder with benign dense soft tissue calcium containing accumulations presenting as pseudogout or tumoral calcinosis. It rarely affects the head and neck region and even less to the petrous bone. We describe a case of para-articular tumoral calcinosis involving the external auditory canal wall in close proximity to the temporomandibular joint with extension towards the middle cranial fossa floor in a 73-year-old man presenting with otalgia and progressing mixed hearing loss. Subtotal petrosectomy with obliteration of the middle ear and mastoid was done with complete removal of the lesion. We discuss the course, treatment and final pathology with possible explanations for the pathophysiology in this particular case. Although tumoral calcinosis is uncommon, this entity should be considered in the differential diagnosis when an osteogenic temporal lesion is seen on computed tomography or magnetic resonance imaging. The treatment for this benign tumor includes complete excision of the lesion in symptomatic cases. Proper evaluation including anamnesis of the family history and previous trauma as well as serology should be done. The exact etiology and classification of crystal deposit diseases require further study.  Osteogenic and chondrogenic lesions involving the temporal bone are infrequent and include fibrous dysplasia, osteoma, ossifying fibroma and some other less common pathologies. A rare pathology is crystal deposit disease. Benign dense soft tissue calcium containing deposits are referred to as tumoral calcinosis and are build up from calcium hydroxyapatite crystals . It ofteA 73-year-old man initially presented to the emergency department with complaints of twitching of the mouth and the sensation of fullness in the left ear. After a neurologist examination a head computed tomography (CT) angiogram was performed revealing opacification of the left mastoid cells with a bony lesion at the anterior aspect of the external auditory canal Figure .The lesion was suspicious for fibrous dysplasia. One month after the start of his symptoms, he was admitted to the otolaryngology ward for the evaluation of long-standing dizziness and imbalance. Physical examination showed a clinical presentation of serous otitis media for which a myringotomy was done. Tuning fork tests and an audiogram confirmed a left mixed hearing loss Figure . A fistuSeven years later the patient was re-evaluated with a head CT and brain magnetic resonance imaging (MRI) for new onset of left otalgia and pain radiating to the temporomandibular joint. The bony lesion at the anterosuperior aspect of the external auditory canal increased in size to 18 mm and extended into the middle cranial fossa floor, with no dural invasion Figure -1D. During otoscopic examination it was noted that the external auditory canal had become obstructed by anterior bulging. A biopsy was taken by the transmeatal approach. The pathology result of the soft white tissue came back as cholesteatoma. For this reason, a non-echo planar diffusion-weighted MRI for cholesteatoma detection was done; however, no restriction specific for cholesteatoma was noted. Based on the clinical complaints and radiologic enlargement of the tumor, an excisional biopsy was recommended. Under general anesthesia with facial nerve monitoring, the patient underwent a subtotal petrosectomy with resection of the lesion and obliteration of the middle ear and mastoid with blind sac closure of the external auditory canal. A far retroauricular skin incision was made extending towards the more anterior temporal area. Blind sac closure of the external auditory canal was performed, a radical mastoid cavity was created, and the mastoid and middle ear showed granulation tissue. During this surgical step, bone erosion was noted at the anterior external auditory canal wall in close proximity to the tympanic membrane. After widening the erosion, white crumbling debris was removed from a preauricular area that extended towards the middle cranial fossa and temporomandibular joint Figure ; howeverIntraoperative frozen section pathology report was inconclusive but indicated an inflammatory process. After complete removal, the remaining petrous cavity was filled with previously harvested abdominal fat and a mesh plate was used to keep the graft in place. The wound was closed in layers without any sign of cerebrospinal fluid (CSF) leak during the procedure. Postoperative CT and MRI showed a stable obliterated cavity without signs of residual tumor Figure . The postoperative course was uneventful with mild dizziness for two days but no further imbalance. The final histopathology examination mentioned fragments of cartilaginous and periosteal tissue with extensive calcium crystal deposition seen on polarized light Figure , compatiThe classification of crystal deposit disease is somewhat confusing. Pseudogout refers to CPPD crystal deposits, whereas tumoral calcinosis is the accumulation of calcium hydroxyapatite crystals. However, CPPD crystal deposits in tumoral calcinosis has been described . In the While most cases of tumoral calcinosis are sporadic, an autosomal recessive inheritance pattern has been described . TumoralAnother finding that raises questions is the progressive mixed hearing loss. Although the conductive component can be partially explained by occlusion of the external auditory canal and the non-aerated middle ear and mastoid, a progressive sensorineural decline is unlikely related to the gradual enlargement of the tumor or local mass effect. A shared longstanding inflammatory process for both pathologies can be postulated; however, there is a lack of evidence for such hypothesis. At the time of the surgery, there was no functional hearing in the left ear. Tumoral calcinosis can grow fast with inflammation or with a more chronic course over a period of several months . AlthougWe present a case of a calcium containing lesion of the petrous bone in close proximity to the temporomandibular joint with extension towards the middle cranial fossa floor. Although rare, this entity should be considered in the differential diagnosis when an osteogenic temporal lesion is seen on CT or MRI. Proper evaluation including anamnesis of the family history and previous trauma as well as serology should be done. The exact etiology and classification of crystal deposit diseases require further study. The treatment for this benign tumor includes radical excision of the lesion itself in symptomatic cases.


Female genital mutilation is a common procedure in sub-Saharan Africa that causes serious short- and long-term complications. Although physicians can overcome these complications sometimes, they can be very confusing to diagnose. In this report, we discuss the surgical management of a patient with an epidermal inclusion cyst of the clitoris as a long-term complication of type III female genital mutilation.A healthy 43-year-old African woman who was a nonsmoker and nonalcoholic presented with a large genital mass causing difficulty in urination and sexual discomfort. The patient had three full-term spontaneous vaginal deliveries without any complications. Perineal examination revealed a 6 × 10-cm, well-circumscribed, mobile, nontender, rounded cystic swelling in the right periclitoral area that was obstructing the urinary meatus and vaginal introitus. A surgical procedure was performed for total excision of the clitoral mass. Pathological findings showed an epidermoid inclusion cyst.Besides increasing clinicians’ awareness of female genital mutilation and its long-term complications, public education campaigns should be designed to eradicate this practice. The World Health Organization (WHO) describes female genital mutilation (FGM) as “all procedures that involve partial or total removal of the external female genitalia, or other injury to the female genital organs for non-medical reasons” . DespiteFGM is classified into four types by the WHO. Type I is excision of the prepuce with or without excision of part or all of the clitoris. Type II is excision of the prepuce and clitoris with partial or total excision of the labia minora. Type III is excision of part or all of the external genitalia and stitching/narrowing of the vaginal opening (infibulation). Type IV includes all other procedures with the aim of tightening or narrowing, such as pricking, piercing, or incision of the clitoris or labia; cauterization by burning of the clitoris and surrounding tissues; scraping of the vaginal orifice; cutting of the vagina; introduction of corrosive substances or herbs into the vagina to cause bleeding. Types I and II comprise most of the cases (up to 80%), whereas type III represents the most severe and extreme form and sometimes is referred to as “pharaonic circumcision” . All typIn this report, we describe a case of a multiparous female adult with a histologically confirmed large epidermal inclusion cyst of the clitoris who had a history of type III FGM performed at the age of 8 years.An otherwise healthy 43-year-old African Sudanese-Darfurian woman presented with a large genital mass causing difficulty in urination and sexual discomfort. The patient first noticed this “sometimes itchy mass” when it was very “tiny” while she was a teenager, and then it started growing over the last 10 years. The patient, who was married at the age of 16, had three full-term spontaneous vaginal deliveries at home without any complications. In her past medical history, there were no other chronic diseases or surgeries, except for FGM. She is living in a village with a large extended family and not working professionally. She does not consume alcohol and or smoke. The patient decided to seek medical attention at her husband’s request because she has not been able to tolerate coitus over the last 5 years because of the pain caused by the mass, which has been negatively affecting their family life because they wish to conceive again. The patient has a history of type III FGM when she was 8 years old. The FGM was performed by a nonmedical traditional practitioner in her village, without any additional history of trauma or surgery. After genital mutilation, she did not have any problem, and for this mass she had received no other treatment for years.When she was admitted to our hospital, her blood pressure was 110/72 mmHg, and her body temperature was 36.8 °C. Her cardiac rhythm was regular, and all pulses were palpated normal. Her physical examination revealed no pathological findings other than the genital mass. The result of her neurological examination was normal. Perineal examination revealed a 6 × 10-cm, well-circumscribed, mobile, nontender, rounded, cystic swelling in the right periclitoral area that was obstructing the urinary meatus and vaginal introitus. The multilobulated mass was along the line of the previously performed type III FGM scar  in an adult female from the Darfur region of Sudan, Africa.Nearly all major medical professional organizations consider the practice of FGM as a violation of human rights, owing to its severe and potentially life-threatening acute and long-term physical and psychological complications. However, FGM is currently practiced in about 30 countries in Africa and in some countries in Asia and the Middle East. In addition, albeit secretly, certain immigrant communities in North America and Europe continue to perform this procedure, where it is mainly done by traditional practitioners and nonmedical personnel –8. ApproEpidermal inclusion cysts result from proliferation of epidermal cells within a circumscribed space, forming a cystic mass after the implantation of keratinized epidermal elements in the dermis. These benign lesions are usually due to vulvar skin trauma followed by an epidermal invagination and proliferation. They grow slowly and usually do not cause symptoms, but they may become infected, causing pain and discomfort . They raIt is well established that FGM can cause devastating short- and long-term complications. The recognition of this serious problem is very important for health care professionals, considering the increased exposure to FGM worldwide resulting from emigration and globalization. It is our hope that increasing understanding and awareness of FGM will help physicians to better serve patients similar to our patient described in this report.


To report a case of bilateral phacomatosis pigmentovascularis (PPV), in a young male,presenting with developmental glaucoma and high myopia along with systemic features of klippel trenanauy weber (KTW) syndrome.The co-existence of oculodermal melanocytosis (ODM)and port-wine stain was termed PPV by Ota. Port-wine stain presents as part of Sturge-Weber syndrome (SWS). KTW presents with varicose veins and tissue hypertrophy alongwith port-wine stain.A 22-year-old male presented with decreased vision owing to high myopia and advanced glaucoma. Incidental findings noted were pigmentary naevi along with facial port-wine stain, which collectively comprises PPV. Also noted were bilateral varicose veins which are usually seen in association with KTW. In view of advanced visual field damage and inability to control intraocular pressures (IOP) on topical medications, he underwent Glaucoma filtration surgery in both eyes. Intra-operatively care was taken to avoid sudden decompression by controlled anterior chamber paracentesis, and scleral flap closure with releasable sutures was done to prevent hypotony related complications in the immediate postoperative period. Such precautions lead to an uneventful postoperative recovery, and even at 3 years’ follow-up, the patient is maintaining IOP in early teens along with a stable visual acuity and visual fields.This case highlights the overlapping features of congenital conditions like oculodermal melanocystosis (ODM), SWS, KTW; presenting in a young male. Systemic features reported less frequently with PPV, included palatal pigmentation and palatal vascular malformations.This case re-emphasizes a common origin of these entities, PPV and KTW, from the neural crest cells. Early recognition of the systemic features and timely surgical intervention under appropriate precautions, can be vision salvaging in such cases of developmental glaucoma.How to cite this article: Singh K, Dangda S, Mutreja A, Bhattacharyya M, Jaisingh K. Bilateral Phacomatosis Pigmentovascularis in a Young Male with Developmental Glaucoma and Varicose Veins. J Curr Glaucoma Pract 2018;12(2):94-98. The pigmentary naevi or ODM, commonly referred to as naevus of Ota, are dermal melanocytic hamartomas seen as bluish hyperpigmenta-tion along both ophthalmic and maxillary branches of the trigeminal nerve and less commonly mandibular. The condition is common in Asians and females, with bilateral cases being rare.2 Glaucoma occurs in half of the patients with SWS and in 10% of those with ODM.34 KTW, although a separate entity, presents with an overlapping feature of port-wine stain along with varicose veins and tissue hypertrophy.56The co-existence of pigmentary naevi and cutaneous vascular malformations was termed PPV by Ota in 1947.We report a case of bilateral PPV with developmental glaucoma, ONH pigmentation and high myopia in association with varicose veins, a feature seen in KTW. We also aim to highlight that early diagnosis and timely surgical intervention can prevent glaucoma blindness in these patients.A young male, 22 years old, presented to our tertiary eye center with complaints of a painles, gradual decrease in vision both eyes, more in the right for 1 year duration. He gave a history of wearing high power glasses (-12.0 DS) OU since early childhood for distance vision.o neuro-retinal rim loss; OS showed 0.8 cupping with a bipolar notch. There was pigmentation within the inferotemporal optic disc margin bilaterally, without any associated choroidal or retinal pigmentation  was hand movements close to face (HMCF) with inaccurate projection of rays (three quadrants) OD and 6/24 (0.6 logMAR) projection of rays accurate OS. Ocular examination revealed a port-wine stain on the right upper lid along with bluish-black scleral pigmentation and dilated prominent episcleral vessels  in both eyes  with a centation . The IOPentation . The visentation .On systemic examination, bilateral port-wine stain could be noted on the face, over the cheek, upper jaw and chin, more on the left side along with brownish-black pigmentation over temples and forehead extending onto cheek and medial aspect of lower lid bilaterally and also upper jaw on the left side . SimilarDue to advanced glaucomatous damage in both eyes and requirement of systemic anti-glaucoma medications for IOP control, the patient was subjected to trabeculec-tomy with anti-fibrotics and releasable sutures in both eyes sequentially at 2 weeks interval. Intraoperatively, care was taken to stabilize the IOP by systemic hyperosmotic agents and controlled paracentesis was done to maintain a stable anterior chamber and help reduce the risk of suprachoroidal hemorrhage. The surgery was uneventful, without the need for draining sclerotomies, but a mild hyphaema occurred at the very end, due to episcleral vessel bleed while suturing the scleral flap. Post-operative course was uneventful, and complications like hypotony, shallow chamber, fresh bleeds or high IOP spikes were not noted. The releasable sutures were removed at two weeks post-operatively. Trabecular meshwork was sent for his-topathology and noted to have increased melanocytes. By 6 weeks’ post-operative, his vision improved to finger counting 1 meter with -14DS OD and 6/18 with -11DS OS; which has remained stable over 3 years follow-up. The IOP is maintained between 9 to 13 mm Hg without any medications.4 Port-wine stain in SWS is composed of ectatic blood vessels in the dermis, which does not resolve over time. Ocular involvement with similar lesion leads to the development of glaucoma in almost half of these patients.3 While, the presence of leptomeningeal angioma on the ipsilateral surface of cerebral hemisphere is responsible for the development of seizures and mental retardation in SWS patients. PPV is the simultaneous occurrence of ODM and port-wine stain. KTW is although a separate syndrome presenting with varicose veins, is related to PPV by virtue of common origin and presence of port-wine stain.56ODM, mostly seen in Asians, classically presents with hyperpigmentation of the periocular skin, episclera, mucous membranes and facial skin in the distribution of trigeminal nerve . The lesion consists of scattered groups of fusiform cells, within the deeper dermis, containing large melanin granules. Ocular involvement in dermatological series varies from 22 to 76%, with reported 63% in a large ophthalmic series, majorly involving the episclera, iris, trabecular meshwork, and choroid, with 10% manifesting glaucoma.78 Although amply reported in isolation of each other, a combination of overlapping systemic features along with glaucoma has been reported less, bilateral presentations are fewer still.14 Single extensive series noted in Thai population by Teekhasaenee and Ritch comprised of nine patients with combined oculodermal hyperpigmentation and vascular malformations with glaucoma, of which six were female, and four patients had combined KTW with PPV presenting as congenital glaucoma at 1-2 months age, of which only one had a bilateral presentation.7 The present case differs from the above series by presenting in the third decade in a male patient. Although onset is unclear, it is unlikely to becongenital glaucoma as features like enlarged corneal diameters, corneal scarring or limbal stretching are absent. The worse eye, i.e., right eye shows vascular malformation of the ipsilateral upper lid (2All above are disorders of neural crest cell migration and differentiation involving the vasomotor nerve cells and abnormal melanocytes which originate there.pper lid . The ass471215 The various mechanisms could be immature angle structures, increased trabecular pigmentation, the presence of excessive melanocytes in the trabecular meshwork and raised episcleral venous pressure. Immaturity of angle has also been confirmed histopathologically in one patient with KTW.12 Such glaucoma is often unresponsive to medical treatment, as was seen in the present case. Even surgical intervention in these cases is fraught with complications like suprachoroidal hemorrhage, choroidal effusions, and hypotony. Preventive posterior sclerotomy has been suggested for the same.16 However, its necessity as a prophylactic measure to prevent the occurrence of the said complications in these patients has been questioned with reports of safe glaucoma filtration surgeries even without it.17 Mandal et al. noted that patients having choroidal hemangioma are more prone to these complications and it may be advisable to look for the same and decide accordingly instead of attempting a prophylactic posterior sclerotomy in all.18 In this case, as well, successful trabeculectomy could be achieved without prophylactic posterior drainage sclerotomies. At the same time, essential precautions to be observed include pre-operative stabilization of IOP with systemic hyper-osmotic agents and oral acetazolamide and slow decompression before attempting sclerostomy. Releasable sutures for scleral flap closure guard against problems related to hypotony in the immediate postoperative period.19Glaucoma in patients with PPV is said to be multifactorial in origin.Thus, definitive and early surgical intervention, where required, should not be deferred in such patients only because of the surgeons’ fear of intraoperative and postoperative complications. Although these conditions are difficult to manage, awareness about problems likely to be encountered and necessary precautions needed to minimize the same, can help maintain vision in these cases.This case of bilateral ocular melanocytosis showed the involvement of sclera, trabecular meshwork and optic nerve head along with myopia and developmental glaucoma. Systemically it was associated with bilateral naevus of Ota with port-wine stain, along with palatal pigmentation and palatal vascular malformation and varicosity of veins in lower limbs bilaterally. This case re-emphasizes a common origin of these entities, i.e., PPV and KTW, from the neural crest cells and highlights that they may present simultaneously with overlapping features.Early recognition of the ocular and systemic manifestations of these disorders is essential and definitive management initiated early in the course of the disease can help prevent blindness. Thus, a timely surgical intervention, under appropriate precautions, can be vision salvaging in such cases of developmental glaucoma.


Cystic lymphangiomas are benign tumors originating mainly in the head and neck of the pediatric population. The authors report a rare case of cystic lymphangioma in the right elbow of an 8-month-old baby treated successfully by complete surgical resection. Lymphangiomas are congenital malformations of the lymphatic system accounting for nearly 5% of all benign tumors in children and infants .Composed of cystically dilated lymphatics, they commonly present as a solitary mass particularly in the head and neck areas and rarely in extremities . BecausePrimary elbow childhood masses have been reported in pilomatrixoma Rosai-Dorfman disease, synovial hemangiomas, fibrosarcoma, and schwannomas –8.We report a very rare case of a large cystic lymphangioma in the elbow of an 8-month-old child.An 8-month-old baby boy was presented to our clinic with a one month history of right elbow mass. The patient's mother claimed that the child is moving his right upper extremity actively without any limitation. She also reported gradual increase in the mass size in the last month.The patient is previously healthy without any past medical or surgical history. The patient is a product of full-term pregnancy with no perinatal complications. His developmental history was uneventful with no family history of malignancies.Physical examination revealed a 3 × 2 × 4 cm mobile soft nontender mass extending from the right proximal ulnar aspect volar surface crossing the elbow crease proximally with no signs of erythema . The fulPlain radiograph of the right elbow showed a lobular soft tissue swelling  with a nThe MRI of the right elbow revealed a 3.3 × 2 × 4.5 cm  lobular juxta articular subcutaneous soft tissue lesion along the medial aspect of the elbow. The lesion appeared multiseptated with a predominantly high T2 signal intensity and contains a 1.8 × 1.8 × 1.5 cm area with low T2 and high T1 signal intensity and no perilesional edema or joint effusion  and commonly present as a mass particularly in the head and neck .Their incidence is reported to be 1.2-1.8 per 1000 of new births .Lymphangiomas are classified as simple or microcystic (formed by lymphatic capillaries), cavernous (formed by bigger lymphatic vessels with a fibrious adventicia), and cystic lymphangiomas (CL) also known as cystic hygromas. Cystic lymphangioma noncommutating masses range from millimeters till centimeters in size , 11.Lymphangiomas appear at birth within the 2nd year of life . 75% of They can occur in adults, usually secondary to local trauma or infections with around 100 reported cases .Actually these tumors are very rare in the extremities . In a reMirza et al. reported 2 cases of cystic lymphangioma of the sternum and a case of upper extremity CL in a 2-month-old male . FurtherThey are usually present in the extremities with a vague mass  that is Hemangiomas are challenging differential for lymphangiomas. They have similar MRI findings in terms of hyperintensity on T2 and hypointensity on T1, but they can be differentiated by the presence of feeding arteries and draining veins found in hemangiomas.Elbow childhood tumors were reported in different types of masses. Elbow subcutaneous neoplasm cited as pilomatrixoma, which is a rare benign neoplasm that presents as a solitary, hard, and mobile mass , was detThe pediatric fibrosarcoma of the elbow and the forearm had been also described in the literature , 7.Schwannomas also can present as painless soft tissue mass in the upper extremities but tend to occur more frequently in adults and are often located within a nerve sheath .Malignant tumors such as synovial sarcoma, rhabdomyosarcoma, or lymphoma must be ruled out by the definitive histologic diagnosis.In our case, malignancy was ruled out by the absence of malignant features  .Ultrasound is very useful and sensitive in detecting cystic masses. It is superior in terms of compliance and avoidance of the use of anesthetics needed in MRI or CT. It is also useful in assessing postoperative complications and recurrences.MRI is currently the modality of choice for diagnosis. It is indispensable in the staging of lymphangiomas in addition to its essential role in mapping for surgical excision , 28.Lymphangiomas appear heterogeneous with a low signal intensity on T1-weighted images and high signal intensity on T2-weighted images (fluid-filled cystic spaces , 29, 30.The natural history of lymphangiomas is variable. Their spontaneous regression is debated and extremely rare.Malignant transformation is also rare with reported cases in previously irradiated lymphangiomas , 33.Lymphangiomas are usually difficult to manage.Nonsurgical options include sclerotherapy using intralesional sirolimus , bleomycSurgical excision remains the mainstay treatment for soft tissue lymphangiomas –24. SurgThe timing of surgical excision is still controversial. Some authors report that patients presenting with such lesion under 12 months would benefit from surgery between 18 and 24 months . In contCystic lymphangiomas are uncommonly present in the upper extremities of infants. The diagnosis is usually made by magnetic resonance imaging, but histology is indispensable for confirmation. Treatment is surgical as these lesions rarely regress spontaneously especially if they are symptomatic and causing musculoskeletal dysfunction.


Hidradenocarcinoma is a rare and locally aggressive tumor rendering a poor prognosis. Furthermore, very few cases present with nodal metastasis. Diagnosing such an entity, and then differentiating it from a benign counterpart, poses a great challenge to the clinicians. There are no established treatment guidelines for the management of this disease, particularly in patients with nodal involvement.We present a case of a young male who was diagnosed with hidradenocarcinoma of the scalp, along with a neck swelling. A thorough diagnostic evaluation was done with endoscopy, pathological, and radiological investigations. He was successfully treated with resection of the scalp lesion and right-sided neck dissection followed by adjuvant concurrent chemoradiation. He remains free of any local and distant disease after five years of regular follow-up. Hidradenocarcinoma is a rare and aggressive tumor that arises from the sweat glands. It is known for its tendency to recur locally and to metastasize to distant sites . The manA 38-year-old male presented to the otorhinolaryngology clinic with the complaint of right-sided neck swelling in February 2013. This swelling had been progressively increasing for three months. There was no associated pain, fever, or difficulty in swallowing. He also reported having a painless swelling on the scalp which had been there for 20 years. On examination, there was a firm, fixed, non-tender mass palpable on the right side of the neck at level II. It measured 3 x 3 cm in size. Another lump was appreciated on the scalp, which was soft in consistency, non-tender, mobile, and 4 x 4 cm in size.Considering these clinical findings, he underwent excisional biopsy of the right nodal mass which suggested hidradenocarcinoma. Histopathologic evaluation revealed sheets of tumor cells showing pleomorphic cells and frequent mitotic figures. On immunohistochemical staining, tumor cells showed positivity for cytokeratin 7, epithelial membrane antigen (EMA), and p63 Figure . A panenThe case was discussed in the head and neck multidisciplinary tumor board meeting at our hospital. On the basis of the available evidence, the consensus was to go for a wide local excision of the scalp lesion, along with a right-sided neck dissection. The histopathology of the scalp lesion was reported as malignant hidradenocarcinoma. The size of the lesion was 4.2 x 3.5 x 2.2 cm with a closest resection (deep) margin of 0.1 cm. A total of 56 lymph nodes were recovered from the right side of the neck, out of which two were positive for tumor metastasis at level II, the largest deposit being 2.3 cm in size.2 as a radiosensitizer. After completion of treatment, he was followed up with clinical examination and serial imaging of the head and neck. Currently, he has completed five years of follow-up and is disease-free, both for local and distant metastasis.Postoperatively, the case was again discussed in the tumor board meeting where the consensus was to offer concurrent chemoradiation. Radiation therapy was offered in two phases to a total dose of 60 Gy in 30 fractions. In phase 1, a radiation dose of 50 Gy was given to the scalp and ipsilateral neck from level II to level IV. A boost dose of 10 Gy was delivered in phase 2 to the deep margin in the scalp and level II neck only. Concurrent cisplatin was given with the radiation at a dose of 100 mg/mHidradenocarcinoma is a rare malignant neoplasm arising from the sweat glands of the skin . It was It is very difficult to diagnose and differentiate hidradenocarcinoma from its benign counterpart. Immunohistochemical analysis plays a very helpful role in diagnosing this entity. Hidradenocarcinoma shows strong positivity for Ki-67 and p53, for keratin AE1/AE3 and cytokeratin 5/6, and negativity for carcinoembryonic antigen (CEA), S-100 protein, gross cystic disease fluid protein 15 (GCDFP-15), EMA, and bcl-2 [A five-year disease-free survival rate of less than 30% has been reported in the literature, suggesting a poor prognosis . The besThe natural history of this aggressive tumor mandates the use of adjuvant treatment after surgery for better local control. Lalya et al. highlighted the role of adjuvant radiation therapy in a case with recurrent hidradenocarcinoma in the parotid gland region. Adjuvant radiation with a dose of 66 Gy and 50 Gy was delivered to the tumor bed and regional lymphatic chains, respectively. After a follow-up of more than 15 months, the patient had local control of the disease without significant toxicity . The rolThe validity of chemotherapy use in this rare tumor is imperceptible because of very few case reports. An article from Tunisia highlighted the case of a 52-year-old woman who was diagnosed with hidradenocarcinoma on the ring finger of left hand, for which surgical excision was performed. Four years later, the lesion recurred with multiple cutaneous metastases along the left arm. She was given four cycles of chemotherapy with 5-fluorouracil but the disease remained stable. Second-line chemotherapy was given with a combination of doxorubicin and cisplatin. After four cycles, the evaluation revealed a partial response . Jouary In our patient, a wide local excision with ipsilateral neck dissection, followed by concurrent chemoradiation was used; we found good local and systemic control up to this point. That being said, in order to develop a standard of care, more literature support is required.Hidradenocarcinoma is a rare malignancy that should be addressed with an aggressive trimodality approach. A multidisciplinary approach in our patient has produced a curative outcome. High-quality clinical research evidence to guide treatment decisions is lacking, and there is need to identify and evaluate new treatment strategies.


Injuries to the flexor pulley system of the hand, while uncommon, can be problematic and debilitating for patients. Current standards of diagnosis for A2 pulley disruptions often include costly imaging studies and inaccurate clinical testing. We present the case of a patient with an isolated complete A2 pulley avulsion that was diagnosed by employing a simple technique using a silicone wedding ring. A silicone wedding band was applied over the region of a suspected A2 pulley rupture, resulting in the immediate restoration of full range of motion as well as complete resolution of the injury after three months, without any need for surgical intervention. The usage of this ring confirmed an A2 pulley avulsion that was visualized on magnetic resonance imaging (MRI). The proposed “Wedding Band Test” is potentially an accurate and inexpensive diagnostic tool for clinical evaluation of A2 pulley ruptures. The flexor pulley system is a crucial structure that provides for the full flexion of the fingers at the distal interphalangeal (DIP) and proximal interphalangeal (PIP) joints. Injuries to this system are more common in activities that place a great deal of stress on these joints. Of this system, the A2 pulley is considered to be the most crucial due to its significant load-bearing capabilities .The increasing prevalence of activities such as rock climbing has led to an increase in injuries of the A2 pulley, likely due to the unique biomechanics of the "crimping" grip used in climbing .Rupture or injury to the A2 and A4 pulley can result in a loss of torque at the DIP and PIP joints, along with a phenomenon known as “bowstringing”, in which the affected finger fails to flex fully and is associated with pain or discomfort. This is associated with a significant decrease in work and excursion efficiency [A 50-year-old male with no remarkable past medical history presented to the clinic for evaluation of a left middle finger injury sustained during jiu-jitsu practice two months prior. The patient’s finger was caught in a shirt sleeve during a takedown maneuver, and he subsequently felt and heard a “pop” in the palmar aspect of the finger. The patient reported pain with flexion and limited range of motion. A physical exam of the patient's hand demonstrated a reduced range of flexion for the middle finger and an inability to make a full composite fist with all fingers, with a 1-cm gap between the fingertip and hand when flexed fully Figure . This “WFlexion of the digits is achieved by the action of the flexor digitorum superficialis (FDS) and flexor digitorum profundus (FDP) muscles. FDP originates from the body of the ulna and interosseous membrane while FDS originates from the medial epicondyle of the humerus. The tendons of FDS and FDP extend into the hand and attach to the base of the distal phalanges and middle phalanges. The flexor pulley system of the hand consists of a series of membranous and ligamentous “sheaths” through which the tendons of FDP and FDS course . The intSchoffl et al. proposed a grading system for the diagnosis and management of suspected pulley ruptures with recommendations for management. The lowest grade injuries involving minor strains and partial ruptures of the A2 pulley were successfully treated with conservative management, including immobilization and functional therapy. Ultrasonography was recommended as a first-line diagnostic tool, followed by MRI if the results were inconclusive .In this case, positioning the ring over the region of the avulsion allowed the ring to serve in place of the A2 pulley. This successfully restored full flexion and the ability to make a composite fist. This “Wedding Band Test” could eliminate the need for an expensive and time-consuming ultrasound or MRI to confirm the presence of a suspected A2 pulley rupture. The utility of this test is also compounded by the fact that clinical evaluation of pulley ruptures is limited due to pain and edema that can obscure the defining characteristics of pulley ruptures such as bowstringing .Schneeberger et al. developed a device called a pulley protection splint (PPS) that reduced the tendon-phalanx distance in a fashion similar to the silicone ring used in this case. This device functions effectively as a treatment option but may be impractical for use in clinical diagnosis .There is potential in the use of silicone bands for the accurate diagnosis of isolated A2 pulley avulsions and further study may be warranted. This method could be as accurate as traditional imaging methodologies while being less costly and potentially alleviating unnecessary healthcare expenditures.


Anisakiasis is a parasitic disease caused by anisakid nematode larvae, which are found in raw or undercooked fish. It occurs more frequently in the digestive tract, but has also been reported outside the gastrointestinal tract. This report details a case of rare hepatic anisakiasis that was initially diagnosed as metastatic rectal cancer.A 60-year-old male underwent radical resection for stage III rectal cancer followed by adjuvant chemotherapy for six months. Seven months after surgery, a new, 10 mm diameter area of low density was seen in segment 4/8 margin of the liver on enhanced computed tomography (CT) scan. Metastatic liver tumour from rectal cancer was suspected. Laparoscopic partial hepatectomy was performed. The diagnosis was revised to hepatic anisakiasis when pathological examination revealed anisakis simplex larvae in the necrotic tissue.Anisakiasis outside of the gastrointestinal tract is a rare finding, but may be seen more frequently with the recent increase in the consumption of raw fish around the world. Hepatic anisakiasis may mimic tumours in the liver. Clinicians should consider dietary inquiry and further evaluation in patients with liver margin tumours less than 20 mm in size that are not positively malignant, as hepatic anisakiasis may be a possible diagnosis.We report a rare case of hepatic anisakiasis which initially presented as suspected metastatic cancer. Hepatic anisakiasis should be considered in the differential diagnosis of low density liver tumours less than 20 mm, where the patient’s diet includes raw fish. This zoThere are two types of allergic reaction, including relaxation type with primary infection and fulminant type with reinfection. At the time of primary infection, the allergic reaction is weak and there are few symptoms. In extragastrointestinal anisakiasis, anisakis larvae from the primary infection penetrate the wall of the gastrointestinal tract asymptomatically, and sometimes granulomatous tissues are formed in the intraperitoneal organs including the omentum, mesentery, peritoneum, abdominal wall, lymph nodes, liver, pancreas, and ovaries.Hepatic anisakiasis is said to be about 0.2% of all cases . To our The work has been reported in line with the SCARE criteria .2l-leucovorin and oxaliplatin) for 6 months after surgery. Follow-up computed tomography (CT) performed at 7 months after surgery detected a new low density area of 10 mm in diameter in the surface of liver segment 4/8, and a deformation in which the liver surface in the vicinity was recessed. The patient showed no symptoms such as abdominal pain during follow-up period after surgery. Gadoxetic acid magnetic resonance imaging (EOB-MRI) revealed nodules of about 8 mm on the surface of liver segment 4/8 and a surrounding area of abnormal EOB uptake. Positron emission tomography (PET)-CT was performed to confirm the presence of a malignant liver tumour and to search for other metastasis. The liver lesion had localized light fluorodeoxyglucose (FDG) uptake in the delayed phase  max: 2.8) and other distant metastasis was not detected , pN1b (2/17), cM0, pStage IIIB. To prevent recurrence, he received postoperative adjuvant chemotherapy of modified FOLFOX (fluorouracil, detected . Serum tdetected . Necrotidetected . It was 3Two important facts were derived from this case: firstly the existence of hepatic anisakiasis, and secondly, the possibility of hepatic anisakiasis should be considered with low density liver margin tumours of less than 20 mm by contrast CT if the patient has a history of eating raw fish.The first zoonotic case attributed to the anisakis species was described in the Netherlands by Van Thiel et al. in 1960, and anisakiasis is divided into three types; gastric, intestinal, and extragastrointestinal anisakiasis . IshikurHepatic anisakiasis may occur as anisakis larvae migrating from the digestive tract wall into the peritoneal cavity invade the liver surface and form a tumour at the liver margin. It is also speculated that larvae from the gastrointestinal tract might reach the liver via the portal vein, but there are no reports of hepatic anisakiasis invasion routes from any other path than the liver surface.In our case, anisakis larvae were recognized in the hepatic vein. Although pathological findings could not show clear evidence of invasion from the liver surface, we judged that anisakis larvae penetrated the liver surface from intraoperative findings which confirmed liver surface contractions at the tumour site and pathological findings in which necrotic tissue and granulation tissue spread around the liver surface.In general, hepatic anisakiasis is difficult to make clinical diagnosis simply by using imaging modalities. In all presented cases including our case, precise diagnosis based on imaging studies was not achieved before pathological examination. Even after pathological examination, to make a definitive diagnosis is also difficult because larva body has often collapsed. The infection in human body is transient and the parasite will die within 14 days, leaving a persistent inflammation forming granuloma. Various immunologic assays like complement fixation test, immunofluorescent-antibody test, immunodiffusion test, immunoelectrophoretic assays, enzyme-linked immunosorbent assay, and radio-allergosorbent test is reliable for obtaining final diagnosis even when the larvae body collapses with time. Use of monoclonal antibodies specific to anisakis antigens also help the definite diagnosis.Hepatic anisakiasis tumours present as a small low density area of the liver margin on CT. In previously reported cases where there was a description of localization, all tumours were at the liver margin, with an average size of 13.8 mm, and almost all tumour less than 20 mm. Low density areas in contrast CT are thought to reflect granulomas and necrotic tissue. Incidental detection of this lesion is difficult to distinguish from carcinoma recurrence in patients with a history of malignancy, and can lead to unnecessary surgery, chemotherapy, and radiotherapy. Follow-up observation or biopsy can be options for a small low density tumour at the liver margin, unless we positively suspect malignant disease.In some cases the collapsing worm body may make the final diagnosis difficult, even after resection. Therefore, the exact frequency of hepatic anisakiasis may be higher than suspected. In our case, the dietary history of the patient and the pathological findings, including significant infiltration of inflammatory cells, oedema, formation of granulation tissue, and cuticular structures characteristic of nematodes such as anisakis and gnathostoma, were consistent with a diagnosis of anisakiasis .4Changing food cultures, including consumption of raw fish, will likely lead to an increase in anisakiasis cases in the Western countries. Hepatic anisakiasis is rare but should be a consideration if a low density small tumour of the liver margin is detected on contrast CT. The dietary history for the patient should be thoroughly evaluated. When clinical findings do not support positive suspicion of malignant tumours, close observation or biopsy may prevent excessive surgical invasion.The authors have no conflict of interest.This study has not received any funding.This case report was approved by the committee of our institute.Written informed consent was obtained from the patient.Ryosuke Kita – Author, Editing of manuscript.Hiroki Hashida – contributor.Kenji Uryuhara – contributor.Satoshi Kaihara – contributor.None.The Guarantor is Ryosuke Kita.Not commissioned, externally peer-reviewed.


At laparotomy there was a left ovarian mass and the rest of the abdomen and omentum looked grossly normal, leading to the conclusion that the primary was in the ovaries. A total abdominal hysterectomy, bilateral adnexectomy and infracolic omentectomy were done. Sigmoidectomy and Hartmann's procedure were also performed. Histology of the specimens showed a large B cell lymphoma. She has since been commenced on chemotherapy and antiretroviral therapy and has been doing well.We present a 34-year-old HIV positive woman who presented with a 2-month history of abdominal pain, abdominal distension, night sweats and fever. She had a firm, immobile and irregular abdominopelvic mass of about 30 weeks uterine size. Investigations showed a haemoglobin of 6.5g/dl, (NR 12-14) cancer antigen 125 of 44U/ml (NR 0-35), serum beta human chorionic gonadotropin (HCG) of 0.258mIU/ml (NR 0-5) and alpha fetoprotein of 7ng/ml (NR <10). Her CD4 count was 63cells/mm We report a rare case of non-Hodgkin's lymphoma that presented to us as an adnexal mass in a 34-year-old woman, recently diagnosed of HIV. The presence of a large tumor involving both ovaries with insignificant disease elsewhere in the abdomen and pelvis lead us to the conclusion that the primary was in the ovaries. Primary Ovarian Non-Hodgkin's Lymphoma (PONHL) is very rare because the ovary lacks lymphatics. PONHL can however arise from lymphocytes, surrounding blood vessels and the corpus luteum . If mali0C and had unilateral leg swelling. The abdomen was asymmetrically distended with an abdominopelvic mass of about 30 weeks size. The mass was firm, immobile with an irregular surface not attached to overlying skin. There was no ascites and no hepatosplenomegaly. The cervix looked grossly normal but was displaced anteriorly. Digital rectal examination revealed a mass in the pouch of Douglas not involving the rectal mucosa. Examination of the other systems was normal.A 34-year-old recently diagnosed HIV positive para 4 was referred to us with a 2-month history of abdominal pain, abdominal distension and backache which had worsened 2 weeks prior to presentation. She also had pain on defecation, night sweats and fever. On examination she looked ill, in respiratory distress with a respiratory rate of 28 breaths per min. She was febrile with a temperature of 38.23. Her renal and hepatic function tests were normal. An ultrasound scan showed a solid mass measuring 19.6cm x 12.5cm, posterior to the uterine fundus and extending to the left adnexa. The uterus and its endometrium were normal. Doppler ultrasound scan of the right lower limb showed no evidence of thrombosis and her chest X-ray showed perihilar lymphadenopathy. The patient was taken for surgical exploration and staging for ovarian malignancy. At laparotomy there was a left ovarian mass attached to a bulky uterus and sigmoid colon. The right ovary was enlarged to about 10cm diameter. The left fallopian tube and ovary could not be distinguished and separated from the tumour. The rest of the abdominal organs and omentum looked grossly normal. There was no ascites. Tumour was friable and was removed by blunt and sharp dissection. Total abdominal hysterectomy, bilateral adnexectomy and infracolic omentectomy were done. The general surgeons were present and they did a sigmoidectomy and a Hartmann's procedure. She had enlarged retroperitoneal lymph nodes which were not dissected to reduce intraoperative bleeding and postoperative morbidity. We had encountered significant bleeding from the friable tumor. Patient was sent to the high dependency unit where she recovered postoperatively.Investigations showed a haemoglobin of 6.5g/dl (NR 12-14g/dl), a slightly elevated cancer antigen 125 of 44U/ml (NR 0-35), serum beta human chorionic gonadotropin (HCG) of 0.258mIU/ml (NR 0-5) and alpha fetoprotein of 7 ng/ml (NR <10). Her CD4 count was 63cells/mmHistology of the specimens showed a large B cell lymphoma. A haematologist consulted and peripheral blood film and bone marrow aspirate were done. Both results were normal, ruling out abnormal cells in both samples. She was started on chemotherapy one month after surgery and by the time of writing she had received one cycle of cyclophosphamide, doxorubicin and vincristine. She has also been initiated on highly active antiretroviral therapy.et al. proposed diagnostic criteria for PONHL [Primary Ovarian Non-Hodgkin's Lymphoma (PONHL) is very rare because the ovary lacks lymphatic tissue. It has been suggested that the PONHL arises from lymphocytes in the ovaries, surrounding blood vessels and the corpus luteum . The pator PONHL . The lymor PONHL . Our patThe patient was managed as a case of ovarian malignancy with optimal cytoreductive surgery. Due to the rarity of ovarian lymphoma, surgery was done using the usual approach for ovarian malignancy. If it was possible to confirm the lymphoma before surgery, then surgery would not be the primary treatment. Most patients with ovarian lymphoma would have to be subjected to the morbidity associated with surgery as a result of this uncertainty before surgery. There are no radiological features differentiating Non-Hodgkin's Lymphoma (NHL) from other ovarian malignancies. About 40-70% of PONHL are bilateral . In a seThere are no controlled trials to guide the management of PONHL due to the rarity of disease. Treatment is based on standard of care for nodal NHL and case reports and series. Chemotherapy is the primary mode of treatment, with cyclophosphamide, doxorubicin and vincristine (CHOP) being the preferred regimen. Other treatment modalities include biological therapy with rituximab, radiotherapy and stem cell transplantation. Survival ranges widely between 0-36% less than 3 years post therapy. Compared with nodal lymphomas, ovarian lymphomas tend to have poorer outcomes due to late diagnoses, a problem commonly seen with other types of ovarian malignancy . Emergenet al. described a case of a patient with HIV who had PONHL. She had been managed as an emergency and had a laparotomy for intraperitoneal bleed. A highly friable right ovarian mass was found and hysterectomy and bilateral salpingoophorectomy was done. Patient came back with a recurrence day 17 post operatively and she refused further treatment [Bangera reatment . The increatment . These pOvarian non-Hodgkin's lymphoma should always be considered in women who are HIV positive presenting with adnexal masses. Research needs to be done to enable histological confirmation using less invasive techniques in patients who are HIV positive and therefore at significant risk of having ovarian non-Hodgkin's lymphoma. This will go a long way in avoiding surgery and its associated morbidity in these patients who usually do better with other forms of treatment.The authors declare no competing interests.


Ectopic pancreas is a rare embryological abnormality apparently not in association with others. Stomach and duodenum are the most common organs involved. Symptoms are nonspecific. Patients may complain of dyspepsia, abdominal pain or intestinal obstruction. Malignant evolution of ectopic pancreatic cells has been reported. Diagnosis can be very challenging due to the rarity of the disease and the absence of specific symptoms and radiological findings. We report two cases of young-adult men admitted to the emergency department due to acute upper gastro-intestinal and pancreatic symptoms. In both cases, during upper gastrointestinal endoscopy no mucosal vegetations were found. Endoscopic ultrasonography revealed gastric lesions originating from the muscularis propria, with a pattern suspected but not conclusive for malignancy. Fine needle aspiration was inconclusive in both cases. The patients underwent abdominal computed tomography, that showed gastric masses originating from the antrum and the lesser curvature of the stomach, with enlarged locoregional lymph nodes. According to the patients’ symptoms, family history, radiological and cytological findings, the patients were scheduled for an explorative laparoscopy. In both cases, gastric ectopic pancreas was found. Clinical presentation of ectopic pancreas is heterogeneous and the diagnosis can be challenging, especially in an emergency setting. Endoscopic ultrasonography and fine needle aspiration can be useful for the diagnosis and clinical staging, but they can be unspecific. Diagnostic-therapeutic laparoscopy should be considered in symptomatic patients. The incidence of ectopic pancreas is 0.6–13%, according to autoptic findings . UsuallyCase report 1A 21-year-old man was admitted to the emergency department for repeated episodes of vomiting in the previous 24 hours, reporting recurrent dyspepsia and weight loss. His father died of gastric cancer one year before. Abdominal examination was unremarkable except for a mild epigastric tenderness; no masses were appreciated. His blood tests were normal.A plain abdominal radiography showed no free intra-abdominal gas. A nasogastric tube was placed (yielding 150 ml of gastric juice) and the patient was hospitalized. He was treated with starvation, proton pump inhibitors, antiemetics and IV hydration therapy, with good clinical response. According to his personal history, an esophagogastroduodenoscopy (EGD) was performed showing a mucosal bulging without superficial abnormalities. Mucosal biopsies were negative for malignancy. Tumor markers were negative. For a better investigation, the patient underwent EUS  that showed an 8 x 4 x 5 cm mass originating from the gastric antrum in the lesser curvature, with both fluid and solid well vascularized components and some enlarged celiac and mesocolic lymph nodes.According to his symptoms, his personal history, the radiological and cytological findings exploratory laparoscopy was indicated. At operation, a huge mass was identified in the posterior wall of the gastric antrum, without serosal invasion. Furthermore, some enlarged celiac lymph nodes were detected and sampled . Due to the lesion size and the absence of preoperative histological diagnosis, a laparoscopic distal gastrectomy with D1 lymphadenectomy and Roux-en-Y gastro-jejunal anastomosis were carried out.Gross histology showed a pancreatic heterotopy without malignancies, localized in the submucosa, muscularis propria and subserosa (Heinrich type I). Eight normal lymph nodes were found.Case report 2A 57-year-old man was admitted to the emergency department with acute epigastric and right hypochondriac pain with vomiting; the patient was afebrile. His medical history was positive for obesity, hypertension, recurrent dyspepsia and type II diabetes. No alcohol abuse was declared. At abdominal examination, no masses or tenderness were detected. Blood tests were normal except for white blood cell (WBC) 11000/ml, C-reactive protein (CRP) 4.4 mg/dl, serum lipase 483 U/l. Abdominal ultrasonography showed no gallbladder or biliary tract abnormalities, the pancreatic region was not explorable, no free air was detected. The patient was hospitalized and initially treated with starvation, proton pump inhibitors and IV hydration therapy.In consideration of clinical presentation and unclear first imaging findings, to rule out the suspicion of pancreatitis, an abdominal CT scan was performed 48 hours later Figure : no pancAn EGD Figure  showed mAt further control, serum lipase value was reduced to 200 U/l and tumor markers were negative. His clinical status gradually improved with medical therapy. After seven days, abdominal CT scan was repeated, showing a reduction in the diameter of his gastric nodule (1.5 x 2.1 cm), while the locoregional lymph nodes were unchanged; no pancreatic abnormalities were detected. For further assessment, EUS was performed Figure : a mixedExploratory laparoscopy was finally indicated. Loose adhesions between the posterior wall of the stomach and the pancreatic body were found, especially involving the proximal part of the lesser curvature, where a mass was detected. No serosal invasion was found. Some enlarged celiac lymph nodes were found and sampled . An intraoperative EGD was performed to better clarify the proximal margin of the lesion, but it was inconclusive. Therefore, laparotomy was indicated. The lesion proximal margin was identified 3 cm below the cardias and a subtotal gastrectomy with D1 lymphadenectomy and Roux-en-Y gastro-jejunal anastomosis was performed.At gross histology Figures , 6, ectoIn both cases, the postoperative course was uneventful and the patients were discharged at their seventh postoperative day in good clinical conditions. At clinical follow-up one month later, the patients were asymptomatic and well, and their blood tests were unremarkable.Pancreatic heterotopia is defined as pancreatic tissue without anatomical or vascular connection to pancreas. It usually occurs in the upper gastrointestinal tract, mainly in the stomach (30%), duodenum 30–90%) and jejunum (20%), the antrum being the commonest affected gastric site ,9. Patho0% and jeIn a recent retrospective study by Betzler et al. 83.5% of patients with duodenal pancreatic heterotopia were asymptomatic, and diagnosis was made by gross histology after surgery, which was usually performed for biliary or pancreatic neoplasia . NeverthMalignant degeneration in pancreatic heterotopia is reported ,8,10 andDiagnosis of the disease is not easy. EGD usually shows only a mucosal bulging. A central dumpling, which corresponds to a duct opening, is present in 35–90% of the cases, but similar findings can occur in case of submucosal gastrointestinal stromal tumors (GIST) or neuroendocrine tumors (NET) ,3. NowadAsymptomatic patients usually require monitoring and no treatment. However, Park et al. suggest that endoscopic resection of pancreatic ectopic lesions confined in the submucosa is feasible. They modified a previous EUS classification, creating two groups: S-type lesion  and D-type lesion . EUS malignant findings are more common in D-type than S-type . Hence, In our first case, the endoscopic exams showed a mucosa bulging. Our second patient did not have bulging but only an edematous, hyperemic mucosa. Both cases did not present any central dumpling and EUS patterns had some malignant stigmata . FNA was performed but was inconclusive. Moreover, patients were symptomatic and CT scan showed large size lesions with lymph node enlargement. In our second case, the mass was in the gastric body, where GIST or NET are more common than other submucosal gastric lesions. Therefore, we scheduled the patients for surgery.Gastric ectopic pancreas clinical presentation is really heterogeneous and can mimic different pathologies. In this way diagnosis is not easy, especially in an emergency setting. The disease can present itself with malignant degeneration in 0.7–2.9% of cases. EUS with FNA is the preferred exam for clinical staging of submucosal lesions but it cannot assess the diagnosis with absolute certainty. Hence, a diagnostic-therapeutic laparoscopy can be considered in symptomatic patients with large size lesions or findings suspected for malignancy.


Klebsiella rhinoscleromatis. It predominately involves the nasal cavities but it can also involve the rest of the upper respiratory tract. Hypertrophic stage of rhinoscleroma may cause large tumor masses which could mimic neoplasm. Radiological imaging is essential for differentiation of rhinoscleroma from other granulomatous and malignant lesions. Imaging is also an important tool for detection of disease extensions and follow up post therapy. We illustrate the radiographic features of a patient with a giant rhinoscleroma using CT, MRI and CT virtual bronchoscopy for prompt diagnosis, assessment of disease extensions before therapy and follow up after therapy. The diagnosis was confirmed by tissue biopsy and culture. The patient received medical antibiotic treatment for 3 months after surgical excision of the lesion.Rhinoscleroma is a chronic granulomatous bacterial infection caused by the gram-negative bacillus  A 37-year-old male who had lived in a rural region in Egypt presented with large nasal masses and epistaxis. The disease had appeared 15 years before; it started with non-obstructing nasal polyps which indicated surgical excision. The histological and bacteriological examinations revealed rhinoscleroma. The patient subsequently received antibiotic treatment. The nasal polyps persisted to recur for 14 times for which he required surgical excision and antibiotic treatment each time. The patient did not receive any medical or surgical treatment for the last 2 years; after which he presented to our facility with large nasal and palatal masses. Physical examination revealed large nasal and palatal erythematous soft tissue masses which bleed on contact .Contrast-enhanced CT scan of the paranasal sinuses revealed large non-enhancing soft tissue masses of high attenuation values within the nasal cavities which extended into both maxillary antra and ethmoidal air cells. The masses extended posteriorly through the posterior choana into the nasopharynx. It caused obstruction of the cartilaginous portions of the Eustachian tubes with subsequently retained secretions in both middle ear cavities. The masses had also occluded the draining ostia of the paranasal sinuses that resulted in the accumulation of retained secretions within the related sinuses and the formation of large left sphenoid mucocele. The left nasal mass extended into the left orbital cavity with subsequent left eye proptosis. The adjacent bony boundaries appeared sclerotic with areas of bone thinning (pressure atrophy) and bone absorption. Bone absorption was seen on the right lateral maxillary sinus wall with small extramaxillary sinus extension. Oropharynx showed lumen narrowing and concentric irregular mural thickening with multiple hard and soft palatal masses. Laryngeal involvement was mainly supraglottic in the form of nodular thickening of the aryepiglottic folds and false vocal cords. No subglottic involvement .T1 and high signal on T2 weighted images. It showed diffusion restriction and homogenous post contrast enhancement  showing abundant clear vacuolated cytoplasm and intracytoplasmic bacilli .The patient had surgical excision of the nasal masses followed by antibiotic treatment in the form rifampicin treatment 150 mg twice daily for 4 months. Follow up CT scan following surgical excision and antibiotic treatment showed significant improvement with absent residual or recurrent nasal masses.1 It is caused by gram-negative bacillus Klebsiella rhinoscleromatis.1 Rhinoscleroma predominantly involves the nasal mucosa, but it can also involve the larynx; nasopharynx; oral cavity; paranasal sinuses; trachea, bronchi or soft tissues of the lips and nose.2 Our patient had large extensive masses with the involvement of multiple sites that included the nose, nasopharynx, paranasal sinuses, left orbit, oropharynx, and larynx.Rhinoscleroma is a chronic granulomatous bacterial disease of the nose that can sometimes infect the upper respiratory tract.3 Infection with rhinoscleroma is usually associated with low socioeconomic status, poor hygiene, and prolonged contact with infected individuals.4 The disease is endemic in Egypt and many other African countries, South-East Asia, Mexico, Central and South America, and Eastern parts of Europe. However, the incidence of rhinoscleroma may increase with current trends in migration.1 Rhinoscleroma is usually classified clinically and pathologically into the following three stages: the catarrhal (or atrophic) stage, the proliferative (or granulomatous) stage, and the fibrotic (or sclerotic) stage.1 Imaging is also important for the determination of treatment and follow up post-therapy.1 CT and MRI are the recommended radiological examinations. On CT scan, bilateral or unilateral expanded nasal masses of variable size.1 Characteristic lesions are homogeneous, hyperdense and non-enhancing masses with well-defined borders.3 Scleroma usually extends into the maxillary sinuses through the ostiomeatal units.5 Scleroma can also extend into the ethmoid and sphenoid sinus with intracranial extension.5 It lines the sinus wall causing bone sclerosis, bone thinning (pressure atrophy) or it may absorb it with extramaxillary sinus extension. No bone destruction which helps to differentiate it from malignant lesions.1 Nasal masses can also obstruct the ostiomeatal units, and secretions may be retained in the related sinuses. CT demonstrates Radiological imaging is essential for early diagnosis of rhinoscleroma, differentiation of rhinoscleroma from similar granulomatous and neoplastic lesions, and detection of disease extensions and complications.6Pharyngeal scleroma causes nodular infiltration of the oropharynx, tonsillar fossa, soft and hard palate.7 The incidence of laryngotracheal involvement varies from 15 to 80%. In scleroma, the usual site of laryngeal involvement is the glottic–subglottic region.8 It shows concentric narrowing of the airway, thickening of the tracheal wall and nodular thickening of the tracheal mucosa.8 Extension of rhinoscleroma to the pharynx has a variable incidence which varies from 18 to 43% in different areas.T1 and T2 weighted images. That characteristic high signal intensity is secondary to increased protein content within Mikulicz cells and Russell bodies.4 On T2 weighted images, it appears hyperintense due to its high cellular component; this is usually associated with hypointense foci of fibrosis. The signal of the lesion changes with time secondary to increase of macromolecular protein concentration and a decrease of the amount of free water, that results in a reduction of T2 and T1 relaxation times.1 The lesion typically shows an inhomogeneous pattern of contrast enhancement following contrast administration secondary to the presence of areas of fibrosis.4 At diffusion MRI, the lesion shows diffusion restriction with low apparent diffusion coefficients values which could mimic malignancy secondary to high cellularity and the presence of fatty cells within the lesion.10 On MRI, the hypertrophic stage of rhinoscleroma has characteristic mild to marked high signal intensity on both 12 Expansion of the nasal cavities, scalloping of the sinus wall, lack of bone destruction and hyperintensity of the nasal mass on T1 weighted images help to differentiate rhinoscleroma from nasal malignancies.1 The differential diagnosis includes granulomatous diseases which can mimic rhinoscleroma, infectious granulomatous processes: bacterial , fungal  and parasitic (mucocutaneous leishmaniasis) or noninfectious granulomatous diseases (granulomatosis with polyangiitis and sarcoidosis), and neoplasms (lymphomas and carcinomas).4 A specific diagnosis is made by identification of rod-shaped bacilli that are positive to periodic acid-Schiff and Warthin-Starry stain.13 Diagnosis is made based on pathology and bacteriology. Histopathology shows an infiltrate of chronic inflammatory cells, the hallmark of rhinoscleroma is the presence of “Mikulicz cells” (foamy macrophages) and “Russell bodies” .14 To avoid disease recurrence and complications, it is essential to diagnose the disease early and to use prolonged therapy. Neglected untreated patients tend to progress to involve other parts of the respiratory tract. Disease extension to the trachea can lead to progressive airway obstruction.1 Surgical intervention is usually reserved for excision of obstructing masses or tracheostomy in case of airway obstruction.1 Treatment of rhinoscleroma is antibiotic therapy.Rhinoscleroma is a chronic granulomatous bacterial infection of the nose and upper respiratory tract.Rhinoscleroma should be considered in the differential diagnosis of granulomatous diseases of the nose in endemic areas.Hypertrophic stage of rhinoscleroma can lead to the formation of large masses which could mimic neoplasm.Imaging is essential for the diagnosis of rhinoscleroma and for differentiation of rhinoscleroma from other granulomatous and malignant nasal lesions.Imaging is also helpful for determination of therapy and follow up post therapy.


HISTORYThe patient is a 56-year-old woman who suffered a significant left foot injury in 2010 when her left foot was crushed in a car accident. Due to her injury, she favored bearing weight on her right foot. In late 2015, she started having pain along the lateral aspect of her right foot. She thought it was due to the increased pressure she was applying to her right foot and did not seek medical attention at that time.However, in July 2016, she felt a nodule around her lateral right ankle. She saw her primary care physician (PCP) for an evaluation. Her PCP initially thought the nodule was a ganglion cyst and tried to aspirate it on two occasions, but the aspirations were unsuccessful. The PCP was concerned that the nodule was a malignant lesion; therefore, the patient was subsequently referred to a surgical orthopedic oncologist who arranged for a magnetic resonance imaging (MRI) scan of her foot.The MRI demonstrated an infiltrative process involving the synovium of the tarsal bones with a lobulated lesion measuring 2.8 × 1.5 × 2 cm. There were similar additional nodular lesions along the plantar surface of the tarsal bones with the MRI documenting a total of five separate lesions. It also demonstrated bony erosion of the posterior aspect of the cuboid and lateral cuneiform bones.Upon physical examination, multiple tender nodules were palpated along the outer aspect of the right foot without erythema or edema. She was unable to heel walk or toe walk due to pain and was unable to ambulate long distances due to constant pain, using a cane for support. She took an occasional hydrocodone-acetaminophen 5-325 mg per tablet for pain with good relief.Her medical history included hypertension which was controlled by medication. Surgeries include a resection of an adrenal mass in 2009 for Conn’s syndrome and a hysterectomy in 2014 for nonmalignant reasons.Giant-cell tumor of the tendon sheath/diffuse pigmented villonodular synovitis. An ultrasound-guided biopsy was performed. Pathology showed histologic features of the biopsy to be compatible with localized giant-cell tumor of the tendon sheath, also known as diffuse pigmented villonodular synovitis (PVNS).Pigmented villonodular synovitis, also known as tenosynovial giant-cell tumor, is a rare synovial proliferative disease with an incidence of 1.8 cases per 1 million people . Due to There are two forms of PVNS: localized and diffuse. Localized tumors usually involve one joint and are generally indolent, whereas diffuse tumors are locally aggressive, more destructive, and more difficult to treat.Surgical removal of all diseased synovial lining remains the standard of care for disease eradication. However, surgery in diffuse tumors often fails to obtain definitive disease control . It is nCSF1R) gene, which encodes for the ligand of CSF1R at the chromosome 1p13 breakpoint and found it to be translocated in 63% to 77% of patients with PVNS. CSF1R ligand is overexpressed in PVNS due to a specific t translocation, which fuses the CSF1 gene to the collagen type VI alpha-3 promoter. This recurrent translocation leads to CSF1 overexpression, which plays an active role in the pathogenesis of these tumors (West and colleagues  identifie tumors . The rese tumors .Imatinib mesylate (Gleevec), a tyrosine kinase inhibitor that is used in chronic myeloid leukemia and gastrointestinal stromal cell tumor, has shown a clinical effect on PVNS. To date, imatinib mesylate is not approved for use in PVNS, but there is strong evidence to support its use.Imatinib mesylate’s antitumor effect is thought to be the blockade of CSF1R. In a multi-institutional retrospective study of 27 patients, imatinib mesylate showed a Response Evaluation Criteria in Solid Tumors (RECIST) partial response in 19% of patients and stable disease in 74% of patients .Osteosarcoma. This can be included in the differential diagnosis. Our patient is older than the average age of patients with osteosarcoma (the average age is between 10–30 years old; Multiple cysts. On two separate occasions, aspirations were attempted and were unsuccessful. It wasn’t until the MRI was done that it was revealed to be a solid mass, not a cystic lesion.Osteoarthritis. Osteoarthritis usually affects joints in the hands, knees, hips, and spine. It usually presents with joint pain or stiffness that is most noticeable when waking up in the morning or after a period of inactivity. A unilateral palpable mass in the foot is not a common presentation for osteoarthritis.The patient was referred to our clinic after the orthopedic surgeon received the results of her biopsy and her case was presented at the sarcoma tumor board meeting. The orthopedic surgeon had a discussion with the patient on the surgical treatment option that would involve amputation of her right foot. She was offered the opportunity to enroll in a clinical trial of a CSF1R inhibitor, which has shown very encouraging results in early studies of this oral medication or to receive the standard of care and start on imatinib mesylate. The patient chose to enroll in the clinical trial and completed two cycles of the study drug. She is tolerating the medication well with minimal side effects. She is experiencing no pain with ambulation and no longer needs the assistance of a cane. She will continue in the clinical trial until she shows progression of disease by RECIST criteria.A clinical trial is an excellent option for rare cancers with agents to improve upon the treatment standard or where there is often no treatment available. Advanced practitioners are in a prime position to educate and refer patients for clinical trials.


Disc herniations can present with unusual findings at unusual locations, mimic different pathologies and create confusion in the daily practice. Extra-foraminal intraneural location of L5-S1 disc herniation is extremely rare and may not be noticed on initial imaging extending the time to reach the diagnosis. There is no specific imaging finding suggesting the intraneural location of the lesion. Here, we report a case of an extra-foraminal intraneural L5-S1 disc herniation mimicking a retroperitoneal peripheral nerve sheath tumour and review similar cases in the literature.  Disc herniation, seen at lumbar levels commonly in the ventral epidural space, can present with unusual findings at unusual locations, mimic different pathologies and create confusion in the daily practice. Here, we report a case of an extra-foraminal L5-S1 disc herniation mimicking a retroperitoneal peripheral nerve sheath tumour and discuss similar cases in the literature.A 42-year-old otherwise healthy man presented to another hospital with sudden right-sided radicular leg pain corresponding to the L5 dermatome. Lumbar computed tomography (CT) and magnetic resonance imaging (MRI) were reported normal. After persistence of the pain for nearly a month and acute development of foot drop, he was admitted again. Pelvic MRI showed a retroperitoneal pre-sacral mass, misdiagnosed on initial images, suggesting a nerve sheath tumour compressing the right L5 nerve Figure -3.He then was referred to our clinic for further treatment and eventual surgery. On admission, the visual analog scale pain score was eight. Neurological examination demonstrated a positive Lasegue sign, 4/5 paresis of the dorsiflexors of the foot and 3/5 paresis of the dorsiflexors of the great toe, dysesthesia and vegetative changes (progressive oedema and colour changes) on L5 sensory dermatome and normal lower extremity reflexes. MRI showed a right pre-sacral mass adjacent to the right L5 nerve measuring 18 x 8 x 30 mm and displacing the nerve fibres anteromedially. The mass was isointense to the skeletal muscle on T1-weighted and hyperintense on T2-weighted images and had peripheral contrast enhancement (Figure A caudally migrated L5-S1 disc herniation was suspected but a nerve sheath tumour could not be ruled out. A repeat MRI in our institution one month after the first one confirmed the mass lesion and showed no interval change of imaging findings. Percutaneous periradicular infiltration of the L5 nerve with local anesthetics and steroids at the intra-foraminal level caused a significant but temporary pain relief. An attempt to remove the mass surgically through a laparoscopic anterior abdominal approach failed because the tumour could not be identified and the surgical bed was marked with a clip which was located just anterior and medial to the mass (Figure At the second attempt, the mass could be fully removed through a microsurgical approach following a lower abdominal laparotomy and an epineurotomy. Thus, the intraneural location of the lesion could be confirmed. Intra-operative biopsy ruled out a tumour and confirmed the diagnosis of disc herniation. Post-operatively, the patient reported significant improvement of his complaints but hypaesthesia on the dorsum of the foot persisted. The patient had an uneventful post-operative recovery except a transient paralytic ileus treated conservatively, and he could be discharged home six days after the second operation. A post-operative MRI showed adequate decompression and a hemosiderin rim surrounding the nerve Figure .We report on an extra-foraminal intraneural L5-S1 disc herniation in the pre-sacral region mimicking a retroperitoneal peripheral nerve sheath tumour that was missed on initial MRI. Because of persistent pain and development of foot drop, re-evaluation of the images and a pelvic MRI confirmed the mass lesion. Intraneural migration of extra-foraminal herniated disc material is extremely rare and to our knowledge, it has been reported only once before [Extra-foraminal disc herniation is an underdiagnosed entity -2 with LCaudal migration of extra-foraminal disc herniations on the L5-S1 level may present as a retroperitoneal mass. A literature survey revealed only four other cases -5,8. TheIntraneural location of the sequester made our case more interesting. Intradural location of a disc herniation is a rare, but well-known entity . HoweverExtra-foraminal intraneural L5-S1 disc herniation presenting as a pre-sacral mass is extremely rare and may not be noticed on initial imaging extending the time to reach the diagnosis. Careful examination of the extra-foraminal area is thus recommended, especially if no intraspinal finding corresponds to the clinical presentation.