Endometriosis in adolescents is often underrecognized and is a contributing factor to significant delays in its diagnosis and management. Extraovarian endometrioma is uncommon, especially in the adolescent age range. We report on a rare case of a large extraovarian endometrioma involving the terminal ileum in an adolescent who presented with abdominal pain and a pelvic mass and its subsequent surgical management. It emphasizes the importance of having a broad differential diagnosis and considers endometriosis in any adolescent with pelvic pain and mass, especially in an atypical context. Increased awareness, education, and research on endometriosis in this young population are essential in order to overcome existing challenges in the early diagnosis and optimal management of this chronic gynaecological condition and avoid morbidity associated with advanced disease. Endometriosis is a common gynaecological disorder characterised by the presence of ectopic endometrial tissue outside of its usual location within the uterus . These tA 19-year-old nulliparous female was referred to the emergency department with a computed tomography scan showing a large right adnexal lesion 9.5 × 6.5 × 6 cm associated with moderate free fluid, adjacent fat stranding, and adjacent normal appendix. This was on the background of a one-day history of severe right iliac fossa colicky pain that was not associated with any other gastrointestinal, genitourinary, or infective symptoms and was not relieved by regular paracetamol and ibuprofen. She had no significant past medical history or family history of the disease and was a nonsmoker and nondrinker. She has an unremarkable regular 28-day menstrual cycle, with her last menstrual period 1 week prior. She was sexually active in a monogamous long-term relationship with her male partner of 17 months, with no history of sexually transmitted infection, and was on the combined oral contraceptive pill.9/L and CRP 5 mg/L, with normal renal and liver function, and her tumour markers  were normal. Her STI screen was negative. Further evaluation of the lesion with a transvaginal pelvic ultrasound showed a nonspecific heterogenous hyperechoic lesion with small cystic spaces in the right adnexa which appeared inseparable from the right ovary. Her pain settled following admission, and she was discharged with follow-up plans in the gynaecology clinic for further imaging and surgical planning.On examination, there was suprapubic tenderness without peritonism and right adnexal tenderness without cervical excitation. Investigations showed WCC 13 × 10She was readmitted 4 days later with right iliac fossa pain, vomiting, and CRP elevated to 93 mg/L. CA-125 was mildly elevated at 57 kU/L. She underwent a pelvic MRI which showed an indeterminate large right adnexal lesion with large areas of low T1/T2 signal intensity, multiple small cysts, and no enhancement . SeveralOperative findings revealed a large cyst that was separate from the normal-looking right ovary and was firmly adherent to the pouch of Douglas, right pelvic sidewall, terminal ileum, and sigmoid colon . The pelHer postoperative recovery was unremarkable, and she was discharged home the following day with outpatient gynaecology clinic follow-up. Histopathology confirmed that the lesion was a fibrotic endometrial cyst with mesothelial hyperplasia, without evidence of malignancy . Pelvic Endometriosis is a common condition estimated to affect up to 15% of all reproductive aged women. The age range is highly variable with isolated case reports of fetal endometriosis. Adolescents with endometriosis often report a delay in clinical diagnosis. The prevalence of endometriosis in adolescents was found to be as high as 62% of all those who undergo laparoscopy for pelvic pain , 4, 6. EThe aetiology of endometriosis has yet to be clearly elucidated. One of the most accepted theories in the pathogenesis of the disease involves the implantation of endometrial tissue on the dependent surfaces of the pelvic cavity via retrograde menstruation through patent fallopian tubes . This thThe diagnosis of endometriosis in adolescents continues to present a significant challenge for various reasons such as (i) patient and physician knowledge gap and normalisation of symptoms, particularly when adolescents usually present atypically with noncyclical pain; (ii) the lack of research specific for adolescents; (iii) and a higher threshold for laparoscopic surgery for definitive diagnosis . Recent Surgery has traditionally been the main definitive treatment for endometrioma when surveillance is not appropriate . SurgicaA large retrospective cohort study previously reported that the recurrence rate of ovarian endometrioma in adolescents after primary surgery increases over time, with a relatively low recurrence rate of 6.4% in the short term (24 months), but 30.9% at 96 months –18. As sIn conclusion, this is a rare case of a large extraovarian endometrioma in an adolescent. It emphasizes on the importance of having a broad differential diagnosis and considers endometriosis in any adolescent with pelvic pain and mass, especially in an atypical context. Increased awareness, education, and research on endometriosis in this young population are essential in order to overcome existing challenges to allow for early diagnosis and treatment and avoid morbidity associated with advanced disease.


A rare form of dermatofibroma (DF) is described in the literature as giant dermatofibroma. Due to the rarity and distinct presentation that can be confused with more sinister skin tumours, these can cause diagnostic uncertainty and require clinicopathologic correlation. Familiarity with this rare presentation of an otherwise common entity is required to prevent unnecessary clinical doubt and excessive interventions. We report a case of giant dermatofibroma on the leg of a 29-year-old healthy male that presented with a 7 cm, nonulcerated pink, brown plaque, adding to the limited literature of less than 30 known cases. A rare variant of this disease has been described as giant dermatofibroma with less than 30 reported cases. Dermatofibroma (DF), also known as fibrous histiocytoma, is a common benign lesion that is frequently encountered in clinical practice with easily recognisable appearance as pink, brown papules or nodules tethered to the skin causing dimple sign and central pallor with surrounding faint pigmentation on dermoscopy. These are slow growing and mostly solitary asymptomatic lesions up to 1.5 cm in diameter. Multiple lesions can be seen in cases of altered immunity [Giant dermatofibromas are usually larger than 5 cm presenting as polypoidal or ulcerated plaques that have a benign course despite their concerning appearance. Most giant DFs reported hitherto have been found in adult patients over limbs and torso with the exceptions of a paediatric case in China and another case of an ulcerated lesion on the head and neck , 3. AparWe report the case of a 29-year-old male who presented with an asymptomatic, pink, brown, scaly plaque of an irregular shape and with some satellite lesions, measuring 7 cm on the right patellar region. This had gradually enlarged over many years. Dermoscopy showed nondiagnostic erythema and some glomerular vessels .The patient was in good general health with no known systemic conditions or immunosuppression.Histopathology was characteristic of typical DF, showing slightly acanthotic epidermis, and dermal cells with a histiocyte-like elongated appearance of myofibroblasts. There was no cytological atypia or mitotic activity. The lesion extended focally in the subcutis along the septa and was associated with hyalinised collagen and a small number of blood vessels Figures  and 3.The biopsy was repeated to ensure that histopathology was representative of the lesion, and showed similar results. Further mapping biopsies from the large lesion for an accurate clinicopathologic correlation also supported this finding, confirming the diagnosis of rare giant, atrophic fibrous histiocytoma. We did not find any features of dermatomyofibroma and dermatofibrosarcoma protuberans in histopathology.Though a benign course was reported in the literature, the patient opted for wide local excision with grafting.Both neoplastic and reactive pathogeneses have been postulated in the formation of conventional DFs; however, even for giant DFs, no recurrences or metastases have been reported so far after surgical excision, giving these findings a good prognostic outlook. This is supported by this case report. One female patient reported in the literature had muscle ulceration and invasion and developed no metastasis in 5 years after wide resection with myocutaneous flap-plasty [In many cases, giant DFs can mimic sinister lesions such as sarcomas, dermatofibrosarcoma protuberans, desmoplastic melanomas, and nonmelanoma skin cancers, but histopathology reveals storiform arrangement of benign spindle cells. Aneurysmal, heamosiderotic, and xanthomatous histologic variants have been described . ImmunosTo our knowledge, our report is the third case of a nonulcerated form of this rare entity and a significant addition to the limited literature on giant DFs . Familia


Lingual osseous choristoma is a rare, benign, bony tumor without clear pathogenesis. Most patients present with an asymptomatic lump in the posterior tongue, while others may suffer from globus sensation, dysphagia, gagging, or irritation. Here, we present a case of lingual osseous choristoma in a pediatric patient managed with surgical excision. Choristoma is a developmental tumor-like growth of microscopically normal tissue in an abnormal location. Osseous choristoma is a benign bony tumor that consists of normal mature osseous tissue occurring in the soft tissue of either the skin (osteoma cutis) or the mucosa of the oral cavity (osteoma mucosae) ,2. The lA 12-year-old healthy girl was referred to our pediatric otolaryngology clinic for assessment of a tongue mass. She was complaining of a mass over the left posterior side of her tongue for two years. The mass was generally stable in size, with slight swelling noticed during upper respiratory tract infection attacks. The child felt some heaviness while talking or eating. The family also reported associated snoring and change in voice. Oral examination showed a 1.7 cm x 1 cm pedunculated, firm, non-tender mass with a smooth surface in the left posterior dorsum of the tongue . The other term used for this condition is lingual osteoma, which is not accurate, as osteoma is a benign, progressive neoplasm arising from osteogenic tissue and associated with the bones. Applying this condition to lingual osteoma, no relationship between the lesion and the bones or any proven osteogenic origin could be observed. Also, not all lingual lesions tend to enlarge ,5. Osseo13. The oThe pathogenesis of osseous choristoma is still unknown, but multiple theories have been discussed in the literature. The first theory was by Monserrat , who sugTongue osseous choristoma is an extremely rare benign bony lesion occurring mostly in the posterior side of the tongue. It tends to develop more in females and most patients are asymptomatic. Surgical excision is the diagnostic and treatment modality. Reporting such a case will increase awareness of the disease in the otolaryngology community.


Fractures of the anterior tibial tuberosity are uncommon, ranging from 0.4% to 2.7% of all epiphyseal lesions reported. Bilateral sequential fractures are even rarer, with less than twenty-eight cases described to date and, as such, there is very little consensus data on their treatment as a whole. We report the first two documented cases of bilateral tibial tuberosity avulsions of the anterior tubercle in Switzerland, treated by open reduction and internal fixation. Both cases were 14-year-old healthy males with no previous medical history, who both suffered extra-articular fractures after falling from a height. The first case was treated in 2012 with a four-year long clinical follow-up and full recovery. The second, treated in 2019, was clinically followed for one year with a complete recovery and has returned to sporting activity at a pre-injury level. Due to the rarity of the condition, a lack of consensus on the optimal therapy, we believe the documentation of these two cases treated by the same team may be of clinical relevance. Avulsion fractures of the anterior tibial tubercle represents 3% of all injuries of the proximal tibia and 0.4–2.7% of all epiphyseal fractures . BilaterThe first classification of this fracture was provided by Watson-Jones  in 1976 As reported by McKoy and Stanitski on analysis of the small case series to date, several methods of fixation are possible, but the most commonly used is the tension band wiring or cannulated screws .Nevertheless, due to the scarcity of these lesions there is not an overall agreement on the best diagnostic classification and no consensus on the gold standard of treatment and consequential outcomes. The aim of this study is to disseminate relevant clinical and epidemiological data with regard to the first reported cases in Switzerland of this pathology.The first case reported in 2012, involved an active 14-year-old male, with a healthy body mass index, who after falling from a height, and landed with both feet on a hard flat surface. The male reported immediate bilateral knee pain with functional impairment. Clinical evaluation showed bilateral knee swelling, limited passive movement, and in the absence of other post-traumatic pathologies. Radiographs imaging  showed aWithin forty-eight hours of diagnosis, the patient underwent bilateral open reduction and internal fixation ORIF; . On the Post-operative therapy included 4 weeks without weight bearing, full lower limb casts followed by gradual and complete restoration of joint range-of-motion (ROM) and weight bearing by the fifth week post-operative under physiotherapeutic supervision. Full subjective and clinical recovery with complete ROM and normal muscle strength were achieved by the 16th post-operative week, with full return to normal activities of daily living. At follow-up evaluation 4 years postoperatively, there were neither negative outcomes nor need for hardware removal.The second case occurred in 2019. As in the first case, a previously healthy, normal weight, 14-year-old male, who played school-level competitive basketball, presented to our Emergencies (A&E) after jumping from ground level and landing on a hard flat surface. The symptoms and signs were identical to the first case with immediate pain and ROM limitation. Clinical evaluation found both knees swollen, with minimum possibility of passive movement and inability to weight bear. X-rays  showed aThe patient underwent surgery and had bilateral ORIF repair. For both knees, the fracture sight was debrided allowing for anatomical reduction, and osteosynthesis was achieved using the same hardware: one 4.5 mm partially threaded cannulated screw  placed dIn the case of the second male, post-operative care involved two full lower limb casts, no weight bearing for six weeks, followed by a gradual increase of knee flexion and weight bearing under physiotherapist guidance. Full subjective and clinical recovery with complete ROM were achieved by post-operative week 12 with full return to normal activity. Light on-field workouts were started at week 13, the first competitive sporting event at week 20, and return to pre-injury level was achieved at six months postoperatively. At a distance of one year, clinical and radiological evaluation confirmed a successful outcome and there was no need for hardware removal.Bilateral simultaneous avulsions of anterior tibial tubercle are very uncommon. As stated in the introduction less than twenty-eight cases are described to date, but it is reasonable to assume that not every case that has been diagnosed or treated worldwide is reported in the literature. With that in mind, one may presume that the condition may be more common than that reflected in the literature; however, further identification and pathophysiological investigation and case dissemination are necessary before a true epidemiology understanding may be achieved. Roy and Nag reported a mean age of 14 years in an almost entirely male population, close to 97% of cases , and ourNicolini et al.  describeTraumatic tibial tubercle avulsion in these population groups may occur due to two possible mechanisms linked to the activity of jumping. As reported by Hanley et al. , the takThese mechanical vector forces in concert with the epiphyseal developmental weakness located at the anterior tibial tubercle are the probable cause of the “classical” tibial tubercle avulsion in this young population group.Several co-morbidities may be related to anterior tubercle avulsion, such as Osgood Schlatter disease, osteogenesis imperfecta, and vitamin D deficiency , 14. OurWatson-Jones first introduced the classification in 1955 describing three types of fractures , followeAs reported by Roy and Nag , which iAnterior tibial avulsion may be associated (1–2%) with collateral and cruciate ligament injuries, meniscal tears, patellar or quadriceps tendon tears, and joint cartilage lesions, especially in the case of intra-articular involvement. Moreover, Ivan Yue et al.  report tAccording to Elbaum  ORIF shoThe average time of patient's return to full activity  ranges between 4 months and 1 year, but complications, such as knee rigidity, genu recurvatum, and patellar malposition are possible documented complications. Non-union, malunion, bursitis, and infection are also reported [Borsch-Madsen first described this injury in 1955 . We condWe reported the first two documented cases of traumatic bilateral simultaneous tibial tuberosity avulsion in Switzerland. Despite the rarity of this pathology, our two cases have been treated similarly to all the other known and reported cases with positive outcomes. Indeed, due to the rarity of the condition, a lack of consensus on a standardized therapy, we believe the documentation and dissemination of our two cases treated by the same team may be of clinical relevance.Simultaneous bilateral avulsion of tibial anterior tubercle in adolescent is a rare condition, and there is a lack of consensus on the optimal therapy, we showed how two clinical cases have been managed.


Pituitary metastases are rare. Clinical presentation could range from asymptomatic to panhypopituitarism or local symptoms. We present a case report of a 43‐year‐old male patient with a new onset headache, visual disturbances, and panhypopituitarism. The investigation led to the diagnosis of pituitary metastasis as the first manifestation of underlying lung cancer. With rising incidence of breast and lung malignancy, headache/visual field disturbance or signs of pituitary hormone deficiency might be the presenting feature of pituitary metastatic disease. A rapid growth of a sellar lesion and/or the presence of diabetes insipidus along with a sellar mass should raise the suspicion for malignancy. Its clinical detection may be underestimated since its prevalence may reach 4%, considering autopsy results.Clinical manifestations triggered by pituitary metastasis can result from the mass effect on adjacent structures and may depend on the location of the mass in the pituitary gland. Visual field defects, anterior pituitary hormonal deficiency like central hypothyroidism and secondary adrenal insufficiency, and diabetes insipidus have been reported. This last manifestation appears to be less common compared to reports from previous series.The existing treatment options are varied, from surgery, radiotherapy, and chemotherapy. Transsphenoidal surgery has been used to relieve mass effect on the optic apparatus, improving visual complaints.2anti‐inflammatory medication.A 43‐year‐old male patient was admitted to the Emergency Department in November 2020 reporting a three week progressively worsening right‐side headache accompanied by photophobia. It was not associated with visual impairment, nausea, anorexia, weight loss, seizures, fever, or weakness and there was no previous history of trauma. He started administering paracetamol 1000 mg bid with no pain relief. He had history of non‐treated dyslipidemia and he was a current smoker with a 20‐pack‐year history of tobacco use. Upon examination he was anxious with normal vital signs . Chest auscultation, abdominal examination, and neurological examination were unremarkable. Laboratory evaluation revealed a normal blood count and a normal kidney and liver function. Computed tomography (CT) of the brain was also normal with mild sinuses inflammation. He was sent home on nonsteroidal nflammatory changes in the paranasal sinuses with no other alterations. The patient was reassured with the results of the MRI findings and was medicated with lysine acetylsalicylate with mild improvement.Despite analgesic medication, the pain did not improve. He had a Neurology Consultation two weeks later and performed a brain magnetic resonance imaging (MRI) reporting some iIn February 2021, he started complaining about rapidly increasing visual disturbances with significant loss of vision in the left eye and temporal hemifield of the right eye. On confrontation visual fields testing, he had apparent temporal hemianopsia in the right eye. Ophthalmological examination also showed a diffuse reduction in sensitivity to stimuli on left eye with a relative afferent pupillary defect. He had an urgent brain MRI done that revealed a 33.3 mm (anteroposterior) × 44.1 mm (transverse) × 47.3 mm  sellar and suprasellar lesion lobular, isointense, heterogenous with extension along the floor of the 3rd ventricle in bilateral contact with the internal carotid arteries, with no signs of invasion of the cavernous sinus; additionally, a superior shift of the optic chiasm was observed as well as an unspecific cerebellar lesion with 5 mm  test for COVID‐19 and he was then admitted to a specific COVID‐19 ward. He remained without symptoms of SARS‐CoV‐2 infection. On Day 5, he started complaining about polydipsia and polyuria (urine output 5100 ml/24 h) and presented with mild hypernatremia 147 mEq/L.Before admission to Neurosurgery Ward, the patient had a screening positive polymerase chain reaction ‐positron emission tomography (PET) showed a focal area of FDG uptake in left lung and multiple musculocutaneous metastasis. Thus, in June 2021, the patient was started on adjuvant chemotherapy with cisplatin and pemetrexed; additionally, he was submitted to radiotherapy on the right inguinal lesion. Two months later, a significant size reduction of the lung lesion was observed, and a total resolution of musculocutaneous lesions was confirmed by FDG‐PET.However, in September 2021, chemotherapy was stopped due to acute kidney injury that was attributed to cisplatin and pemetrexed. Radiological monitoring showed stable disease until January 2022. Then, he started complaining about progressively need of larger doses of desmopressin to control urine output. Pituitary MRI showed tumor local recurrence and TAP‐CT showed growth of the lung lesion. He started second‐line therapy with nivolumab in February 2022. In the last Endocrinology appointment, he was also medicated with hydrocortisone 20 mg/day, levothyroxine 50 μg/day, desmopressin sublingual 0.30 mg/day, and testosterone i.m. 250 mg per month.5Pituitary metastases are rare and account for less than 1% of surgeries to the pituitary gland. Although neoplasms from almost every tissue have been reported to metastasize to the pituitary, breast, and lung cancer account for approximately two‐thirds of pituitary metastasis; breast cancer is the most common cause for pituitary metastasis among women and lung cancer among men.Due to predilection for metastasis to the posterior lobe, the most common hormonal abnormality is diabetes insipidus with an estimated incidence of 70%.The gold standard for radiological evaluation of a sellar lesion is MRI. The first performed MRI did not describe any lesion. After the diagnosis, the images of the first MRI were reviewed by the Pituitary Team with the identification of a 10 mm sellar e suprasellar lesion with a slight superior shift of the optic chiasm Figure . This abIn this report, the rapid growth 2 months apart and the finding of a second lesion raised the suspicion for malignancy. Some other features that suggest pituitary metastasis are thickened pituitary stalk, invasion of the cavernous sinus, bone erosion and invasion of surrounding compartments, heterogeneous or ring contrast enhancement and loss of the normal hyperintense signal of the posterior pituitary lobe on T1 weighted sequences,Treatment is usually palliative and depends on the symptoms and the extension of the systemic disease.SA, AM, BB, IM, AP, and LC provided or directed ward care, investigation, and management for the patient. SA wrote the manuscript. LC provided the CT and MRI findings and images. DF and AS performed the surgery. ED, MC, CP, and MM provided the histological images. JSN reviewed the final draft of the case.The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.Written informed consent was obtained from the patient for the publication of this article.


Muscle‐liver‐brain‐eye Nanism = dwarfism; MUL) is a rare genetic syndrome. The underlying TRIM37 mutation predisposes these children to develop tumors frequently. In the largest published series of MUL, 8% patients were reported to develop Wilms tumor (WT). The published literature lacks data regarding the best treatment protocol and outcome of this cohort of children with WT and MUL. We report here a 2‐year‐old boy with WT and MUL and present a review of literature on WT in MUL.Mulibrey‐Nanism  of WT have been reported in MUL and treatment details were available for six cases. They were managed primarily with surgery, chemotherapy with/without radiotherapy, and all achieved remission. The outcome data is available only for two cases, one has been followed up till 15 years post treatment for WT and other is our patient. AFatrial flutterASDatrial septal defectMULMulibrey NanismWTWilms tumor1Muscle‐liver‐brain‐eye Nanism = dwarfism), is an autosomal recessive disorder caused by mutations in the TRIM37 gene.c.493‐2A>G has been reported in Finnish patients probably due to a founder effect.Mulibrey‐Nanism (MUL)  and length of 49 cm . On examination, child had a triangular face, low nasal bridge, high broad forehead, low set ears, a high‐pitched voice, distended abdomen, left sided ballotable renal mass and hepatomegaly. Neurological examination revealed mild hypotonia and normal higher mental functions. His present height was 87 cm (15th–50th centile as per WHO growth chart) and weight was 10 kg (third centile as per WHO growth chart). Echocardiography showed moderate size secundum atrial septal defect (ASD) with bidirectional shunt predominantly left to right and restrictive filling of right ventricle as evidenced by tissue doppler imaging. Final diagnosis was considered WT stage 4 due to multiple nodules seen in liver. He was started on neo‐adjuvant chemotherapy as per SIOP2001 protocol.A 2‐year‐old boy presented with incidentally detected mass in left side of his abdomen. Computerized tomography (CT) scan of abdomen showed a heterogeneously enhancing, solid cystic lesion measuring 59 × 56 × 82 mm in the upper pole of the left kidney. Liver was also enlarged with hypodense lesions in segments IVB/V and VI. CT chest showed no evidence of metastasis. Renal and liver biopsies were done at another center. Review of renal biopsy confirmed the diagnosis of WT. Liver biopsy showed no tumor. He was born of non‐consanguineous parents with birth weight of 2800 g  on electrocardiogram. It was aborted with injection amiodarone. Gradually his voice returned and he could swallow food. In view of cough, he was tested for SARS‐COV‐2 by PCR and it was detected to be positive. He was shifted to COVID‐19 care ward where he had a second episode of atrial flutter and required to be shifted to intensive care unit again. He was managed successfully for AF and his cardiac rhythm reverted to normal. Once he was negative for COVID‐19 he was discharged.c.1336C>T  resulting in a stop codon and premature truncation of the protein at codon 446 (p. Arg446Ter). This mutation was reported as a pathogenic variant for Mulibrey‐Nanism. Another heterozygous missense variation in exon 2 of the TRIM37 gene variant c.80T>A  that results in the amino acid substitution of Glutamine for Leucine at codon 27  was detected but was analyzed to be of unknown significance.In view of child not tolerating chemotherapy well, having abnormal facies, cardiac anomaly, hepatomegaly and abnormal findings in MRI brain; it was suspected that child has some underlying syndrome. So, a karyotyping with standard 400–450 G banding technique was performed and it was reported as normal. Mitomycin C sensitivity testing was done on 72 h PHA stimulated unsynchronized cultures to rule of Fanconi Anemia and was reported as normal. Finally a clinical exome sequencing using selective capture and sequencing of the protein coding regions of the genome/genes was performed. The library was sequenced to mean >80–100× coverage on Illumina sequencing platform. The sequences obtained was aligned to human reference genome (GRCh38.p13) using Sentieon aligner and analyzed using Sentieon for removing duplicates, recalibration and re‐alignment of indels.The genomic DNA samples of the parents were analyzed for the reported variants in TRIM37 gene using PCR followed by DNA sequencing. Mother was negative for both c.80T>A and c.1336C>T mutations and father was heterozygous for c.80T>A and negative c.1336C>T. Although the c.80T>A has been reported to be of unknown significance, parental testing has proven that it is inherited from father and the other known mutation is de novo. The child satisfied the clinical criteria for diagnosis of MUL due to presence three major criteria  and two minor criteria . Along with heterozygous pathogentic mutation, the second heterozygous novel mutation could possibly be considered deleterious causing MUL in him.Positron emission tomography‐CT done after completion of 5‐weeks of chemotherapy showed reduction in size of renal tumor with multiple non‐FDG avid liver lesions. CT chest was suggestive of minimal cardiomegaly with basal areas of parietal pericardium showing evidence of early calcification. He underwent nephrectomy and histopathology was suggestive of favorable histology WT . Review of tissue block of liver lesions was not suggestive of WT metastasis and a possibility of benign hamartomas was kept. Post operatively tumor was classified as stage‐I. Figure 4On review of literature, we found a total of 14 cases including one case of ours.MUL is associated with an increased frequency of benign and malignant tumors and also shows disturbed control of organ development. Karlberg et al. noted a total of 210 tumorous lesions in 66/89 Finnish patients (74%). The benign tumors included cysts, vascular abnormalities (peliosis), adrenal adenoma, parathyroid adenoma, thyroid goiter, pancreatic cystadenoma, renal angiomyolipoma, ovarian fibro thecoma and phaeochromocytoma. Thirteen of the 89 patients (15%) had a malignant tumor, such as WT, renal papillary carcinoma, thyroid papillary and medullar carcinoma, ovarian and endometrial carcinoma, acute lymphoblastic leukemia, Langerhans cell histiocytosis and carcinoid tumor.WT can be the first presentation, with MUL being diagnosed several years later as seen in three cases found in this review of literature. Children with WT should be assessed for possible syndromic association and be managed accordingly.Two out of 14 patients initially treated for WT, required pericardiectomy several years later. Our case also has early signs of pericardial thickening and may later require cardiac intervention. Although cardiac affliction is known, arrhythmia as a predominant symptom seen in our patient has not been described previously. Other features seen in patients associated with MUL and WTs included bone dysplasia, constrictive pericarditis requiring pericardiectomy, and massive ascites requiring repeated abdominocentesis.5Our patient presented with WT. In view of child not tolerating chemotherapy well, having abnormal facies, cardiac anomaly, hepatomegaly and abnormal findings in MRI brain; it was suspected that child has some underlying syndrome thus genetic testing was performed. Our patient showed three major signs  and two minor signs  as described by Karlberg et al., depicted in Table MUL is associated with an increased frequency of benign and malignant tumors and also shows disturbed control of organ development. The association of TRIM37 mutations with increased risk of cancer indicates a pro‐survival process in TRIM37‐deficient tumor cells. Wang et al. reported interaction of lysosomal protein mTOR with TRIM37, leading to transcriptional activation of genes involved in lysosome biogenesis and macro autophagy/autophagy. Autophagy could be a way for the cell to survive the loss of TRIM37.c.80T>A noted in our patient was novel and has not been reported previously.c.1336C>T is a reported pathogenic variant and is probably de novo acquired in our patient.The missense variation in exon 2 of the TRIM37 gene variant The coexisting liver lesion which was initially considered as hepatic metastasis and was later diagnosed as benign liver hamartomas, emphasizes the need to look out for associated benign tumors. These patients are highly prone to tumorigenesis and careful diagnosis can help in assigning the correct stage and formulating relevant treatment protocol.Heart is the most frequently affected organ in MUL with constrictive pericarditis, myocardial hypertrophy and variable myocardial fibrosis constituting the main components of Mulibrey heart disease. Mariata et al. reported 49 adults with MUL heart disease, noted these patients to be highly susceptible to develop congestive cardiac failure and need for pericardiectomy in one third of the patients.WT although rare in children with MUL, is treatable. Our case highlights the need to watch out for cardiac arrhythmia in these patients. Although a lot could not be gathered form review of literature regarding treatment protocol, but it appears that these children tolerate standard treatment protocol well and can achieve remission.All authors have nothing to disclose.Conceptualization, K.U., D.T., M.S.S., A.Y., K.B., J.S., N.R., S.P.Y.; Methodology, K.U., D.T., D.G., M.S.S., A.Y., R.K., V.R., K.B., S.N., J.S., N.R., S.P.Y.; Investigation, K.U., D.T., M.S.S., R.K., V.R., M.S.D., K.B., S.N., J.S., N.R., S.P.Y.; Formal Analysis, K.U., M.S.S., A.Y., R.K., V.R., K.B., S.N., J.S., N.R., S.P.Y.; Resources, K.U., D.T., D.G., M.S.S., A.Y., V.R., M.S.D., S.N., J.S., N.R., S.P.Y.; Writing—Original Draft, K.U., D.G., J.S., N.R., S.P.Y.; Writing—Review & Editing, D.T., M.S.S., R.K., K.B., N.R., S.P.Y.; Visualization, K.U., D.T., M.S.S., A.Y., R.K., V.R., M.S.D., K.B., S.N., J.S., N.R., S.P.Y.; Supervision, R.K., V.R., K.B., N.R., S.P.Y.; Funding Acquisition, D.T., A.Y., R.K., K.B., S.N., J.S., N.R., S.P.Y.; Data Curation, K.U., D.T., D.G., M.S.S., A.Y., R.K., V.R., M.S.D., K.B., S.N., J.S., N.R., S.P.Y.; Project Administration, K.U., D.T., K.B., N.R., S.P.Y.; Software, K.U., D.T., D.G., M.S.S., A.Y., V.R., K.B., S.N., J.S., N.R., S.P.Y.; Validation, K.U., D.T., A.Y., R.K., V.R., K.B., S.N., J.S., N.R., S.P.Y.All authors had full access to the data in the study and take responsibility for the integrity of the data and the accuracy of the data analysis. Institutional approval N/A. Informed consent of parent obtained.


This report investigates the growth of an odontogenic cyst around the inferior alveolar nerve (IAN), a crucial vital structure to be approached during oral and maxillofacial surgical procedures. A unique aspect of this case was that the cyst completely engulfed the IAN rather than displacing it and left the patient asymptomatic. Under general anesthesia, complete enucleation of the cyst was performed while the IAN was dissected away. The patient had a temporary neurosensory dysfunction, which they fully recovered from. It is extremely rare for pathological entities to engulf the mandibular canal (MC); however, if the lesion is noninvasive, an excellent prognosis is likely to be expected. The intervention of oral pathologic lesions can range from minor to major according to the diagnosis. The management of intraosseous lesions is particularly complicated because of their limited accessibility. Moreover, the presence of adjacent vital structures requires decisions that may be challenging to the clinician as well as the patient. With this in mind, impacted lower third molars are associated with a higher risk of developing several types of pathological conditions.These include lesions that are present as unicystic, well-defined radiolucencies in the posterior mandible, such as dentigerous cysts, unicystic ameloblastomas, and odontogenic keratocysts. Their association with an impacted tooth is reported to be 65%, 50%-80%, and 27%, respectively, predominantly with a third molar . The preFurthermore, mandibular intraosseous pathology that is associated with the inferior alveolar nerve (IAN) is infrequently seen; nevertheless, some cases have been reported. These may include developmental cysts , benign A 30-year-old Middle Eastern man was referred to the oral and maxillofacial surgery department at King Abdulaziz University after a radiolucent lesion was identified by the dentist on the orthopantomogram (OPG) radiograph during a routine examination Figure . The patUpon OPG interpretation, a well-defined, noncorticated radiolucency was seen in the right posterior mandible and inferior to the molars. The lesion extends from the mesial root apex of the second molar to the distal area of the third molar. It also communicates with the follicular space of the third molar, whereas there is no radiographic effect on the first molar. The mandibular canal (MC) begins to expand as it enters the lesion, and then its cortical plates cannot be seen, suggesting either superimposition or engulfment.Cone-beam computed tomography has confirmed the presence of the IAN within the lesion Figure . Also, aExtraction of the third molar with an incisional biopsy was performed through a buccal window as part of the surgical plan. In the microscopic examination, a cystic process was lined by a thin, stratified squamous epithelium with a focal area of thickening. There was a patchy chronic inflammatory infiltrate and cholesterol clefts in the cystic fibrous connective tissue wall, and the diagnosis was an odontogenic cyst. An examination of the whole specimen following surgical removal was required as there were no characteristics of any particular odontogenic cyst found on the biopsy. Based on that, the surgical plan was to proceed with enucleation under general anesthesia.The risk of IAN injury and its consequences were discussed thoroughly with the patient. A full mucoperiosteal flap was raised, and a large buccal bony window was opened against the lesion’s site. The cyst was dissected gently from the nerve in multiple fragments until the entire area looked clear of any detectable remnants. There was no severance or direct injury to the IAN. Using a rotary instrument, peripheral ostectomy was done to the surrounding internal surface of the mandible, and the flap was sutured in primary closure. In addition to standard postoperative instructions, a soft diet was advised to avoid an unlikely but potential mandibular fracture.odontogenic cyst with a giant cell reaction.Histologically, the excisional biopsy did not exhibit any distinctive characteristics for a specific odontogenic cyst. The cystic fibrous connective tissue wall showed patchy inflammatory infiltrate, cholesterol cleft, and giant cell reaction Figure . The finFollow-upClinical examination of the surgical site one week after surgery found no erythema or signs of infection. A radiographic examination showed that the defect was large and the lower border of the mandible was intact Figure . The onlIt was observed that as time goes by, it can be difficult to assess the symptoms of the nerve injury as the patient may have adapted to the sensation and may have trouble describing it accurately. After six months, the IAN function was fully restored; the numbness subsided spontaneously without any pharmaceutical intervention.At the one-year follow-up, OPG shows significant yet unfinished bone deposition, which is indicative of the size of the defect; also the MC can be traced within the enucleated lesion’s region Figure . FurtherThe atypical growth behavior of the lesion around the IAN radiographically and the masking effect of the inflammatory infiltrates on the histopathological sections have caused a diagnostic dilemma. However, the incisional biopsy ruled out the differential diagnosis of tumors and identified an odontogenic cyst, so the surgical intervention of choice was enucleation and peripheral ostectomy.Some of the histopathology features of the excisional biopsy are consistent with those of a periapical cyst or an inflamed dentigerous cyst, both of which account for the majority of jaw lesions . RoutineLiterature has revealed frequent types of intraosseous lesions that are involved with the IAN. There has been a correlation between the direction of the MC displacement and various types of pathological entities. Odontogenic tumors such as ameloblastomas ,10 and mRegarding preoperative sensory dysfunction of the IAN, a dentigerous cyst was reported to displace the MC inferiorly and cause paresthesia . In a siHowever, a rare case of a large dentigerous cyst associated with an impacted lower third molar was reported to surround the IAN based on 3D radiographic images . It was The sensory function of the IAN and the morphology of the MC have been reported to be affected by neural origin lesions such as intraosseous neurofibroma  and intrIn this report, the neurosensory disturbance developed postoperatively was caused by the dissection of the cyst from the IAN. Although the nerve as a whole was intact, a potential minor injury could have occurred. Approximately six months after the surgical intervention, the patient regained normal sensation and, therefore, could be categorized as having axonotmesis based on the Seddon classification .Preoperative radiographic differential diagnosis of lesions involved with the IAN is quite challenging. The unique presentation of an odontogenic cyst engulfing the IAN seems to have a conservative effect that does not produce preoperative neurosensory dysfunction compared to nerve displacement or compression. Its intraosseous position and challenging accessibility do not preclude a positive prognosis. The IAN was not damaged and gained full recovery primarily because of the noninvasive nature of the lesion and the cautious operative technique.


Primary cardiac intimal sarcoma, an extremely rare cardiac tumor subtype, is often mis-diagnosed owing to its rarity and non-specific clinical and radiological features. We report a case of cardiac intimal sarcoma mimicking atrial myxoma in which the clinical presentation and multimodality imaging are described in detail, and diagnostic challenges are highlighted. Primary cardiac intimal sarcoma is an extremely rare subtype of cardiac tumor, with only a few such cases having been reported –8. It ofA 52-year-old woman was admitted to our hospital with a 3-month history of progressive cough and shortness of breath. On admission, laboratory findings and non-contrast thoracic computed tomography (CT) scan results were negative for infectious diseases. Her electrocardiogram was normal ; however, transthoracic echocardiography revealed an irregularly shaped 4.8 × 6.7 mm hypoechoic mass in the left atrium that appeared broadly based and originating from the lateral atrial wall . The masThe patient had undergone cervical cancer resection in 2014. No mass or mass-like lesion of the heart had been observed on contrast-enhanced thoracic CT during the follow-up period in 2019. However, possible cardiac metastasis was now suspected. Contrast-enhanced CT and cardiovascular magnetic resonance (CMR) imaging were performed for further characterization. CT images showed that the lobulated mass with homogeneous hypodensity almost occupied the left atrium and the left atrial appendage, extending to the orifice of the left superior pulmonary vein, and showing significantly inhomogeneous enhancement in the arterial phase. Contrast uptake decreased with a longer delay time  .Regarding CMR imaging, compared with the myocardium, the lesion showed significantly elevated native T1 and T2 values on T1 and T2 mapping . Mildly Surgical resection was then performed. Histopathological examination revealed spindle-shaped tumor cells with prominent atypia. Mitotic activity was frequent. Some stromal myxoid changes could also be observed in the tumor . ExtensiNon-invasive pre-operative assessment of cardiac tumors is vital for further management and could be an important predictor of prognosis. Echocardiography, CT, and magnetic resonance imaging (MRI) are common techniques used for diagnosis and monitoring. Owing to its wide availability and convenience, echocardiography is often used as the first imaging modality to confirm the presence of a cardiac mass and quantify the morphological characteristics, attachment, and mobility of the tumor. CT and MRI are optimal approaches for assessing tissue characterization, vascularity, adjacent infiltration, and extracardiac metastases –11. ConsIntimal sarcoma is a rare subtype of mesenchymal sarcoma that commonly originates in the great vessels with a predilection for the pulmonary arteries . The heaThe mean survival of patients with cardiac intimal sarcoma ranges from 3 months to 1 year . SurgicaCardiac intimal sarcoma is a rare disease with specific characteristics. This case emphasizes the challenges of differential diagnosis and the importance of multimodality imaging for preoperative assessment.The original contributions presented in this study are included in this article/supplementary material, further inquiries can be directed to the corresponding authors.The studies involving human participants were reviewed and approved by Medical Ethics Committee of Zhongnan Hospital of Wuhan University. Written informed consent for participation was not required for this study in accordance with the national legislation and the institutional requirements.LL conducted the draft writing and data analysis. NY was responsible for literature research and data acquisition. HH contributed to image postprocessing. HX and JL supervised the activities. All authors participated in concept development, revision of the manuscript, and read and approved the final manuscript.


Intracranial germinomas (GN) are rare cancers that primarily affect children, making them rarer still in adults. Standard treatment for this neoplasm includes neoadjuvant chemotherapy (NC) followed by radiotherapy (RT) or RT at a higher dose and larger field. These recommendations are based on studies focused mostly on children; it is currently unclear whether this treatment is applicable to adults.We present a case of a 23‐year‐old adult male with no underlying pathologies, drug allergies, or family history of cancer, who presented for medical evaluation with blurred vision, diplopia, forgetfulness, and weight loss starting 3–4 months before the evaluation. Clinical examination indicated Parinaud's Syndrome. Magnetic resonance imaging (MRI) and computed tomography (CT) revealed a pineal tumor with ependymal dissemination in both lateral ventricles, which was causing obstructive hydrocephalus. The patient had surgery consisting of ventriculostomy, Holter shunt insertion, cisternal ventricular intubation, and cisterna magna anastomosis to improve ventricular drainage. Pathology confirmed pineal germinoma. Cerebrospinal fluid cytology and MRI of the axis were negative. Four cycles of NC were given to the patient , with reduced dosage. Once a partial volumetric response was confirmed, whole‐ventricular radiotherapy (WVR) was initiated with a total tumor bed dose of 45 Gy over 25 sessions in 5 weeks. Optimum clinical results were observed, and no short‐term (<90 day) radiation toxicity was observed. The patient was able to resume his normal activities soon after treatment. Follow‐ups over 2 years post‐surgery indicated continued control of the lesion and absence of symptoms except for mild diplopia.Although this is a case report, these data suggest that a reduced NC course and WVR may effectively treat adult GN. This protocol likely decreases the risk of undesirable NC and RT secondary effects, while providing excellent local control; however, using a narrower RT field is not recommended. As with other CNS‐GCT, most patients are diagnosed before 20 years of age and are predominately male. GN is most frequently found in the brain midline, the pineal gland, and/or suprasellar regions,The diagnosis of GN includes evaluation of clinical symptoms, analysis of oncoprotein in blood and/or cerebrospinal fluid (CSF), medical imaging, and histopathology.When treated, GN has an excellent prognosis, with 5‐year progression‐free survival rates of more than 90%; some studies in children have seen survival at 100%.The overall rarity of GN and its predominance in children leave gaps in knowledge on how to treat these tumors in adults. Nearly all studies on GN treatment and outcome are based on pediatric cases or make no distinction between children and adults, which skews them toward children. Therefore, current standard treatment procedures have been developed with children in mind, but it has been questioned whether these standards are applicable to adults.To address some of these gaps in knowledge, we present a case of a 23‐year‐old adult that was diagnosed with GN and treated according to the recommended protocol for children, but with a slightly higher dose of radiation and a reduced NC dosage.2A 23‐year‐old male from Barcelona presented with symptoms of blurred vision, diplopia, and memory and weight loss for 3–4 months. The patient had no pathological antecedents of interest, family history of cancer, or known drug allergies.Physical examination of the patient revealed Parinaud's syndrome. CT revealed the presence of a solid cystic lesion measuring 36 × 38 × 39 mm in the pineal region with hyperdense areas near the septum and lateral ventricles. Triventricular hydrocephalus was also observed. Cranial MRI indicated the presence of a 37 × 33 × 47 mm pineal tumor with ependymal spread in both lateral ventricles, causing obstructive hydrocephalus. Both tomograms were suggestive of GCT Figure .Two days after presenting at the hospital, the patient was admitted to surgery. The patient was placed under general anesthesia in a supine position with orotracheal intubation, with the head in a neutral position and immobilized with a Mayfield–Kees skull fixation apparatus. The initial incision was centered 12.5 cm from the nasion and 2.5 cm from the midline. Tissue was dissected by planes, and the skull was opened by a right front trephine hole. An external ventricular drain was inserted, and CSF was collected for analysis. An endoscope was inserted to observe the right lateral ventricle. The third ventricle was accessed through the right foramen of Monro. The foramen was widened by premamillary perforation and held open with a Fogarty balloon until the adequate connection between the two ventricles was achieved. A pink, cottony tumor lesion was observed in the anterior third of the third ventricle floor in front of the perforation. Two samples for histopathology were obtained. A tumor was also observed on the right lateral wall of the third ventricle, which had cystic characteristics and apparent ependymal preservation. Two samples were taken from this lesion. All samples were preserved in formalin for histopathological analysis. Finally, a septostomy was performed by removing the endoscope and inserting and fixing a styletless external ventricular drain. This procedure revealed an additional lesion in the anterior third of the septum. The surgery proceeded without incident with no hemorrhaging.CSF analysis results were negative for malignant cells and contained the tumor markers BHCG at 10 IU/L and AFP < 1.3 ng/ml. Histopathological examination of the lesion biopsies indicated pineal GN, as the cells were round and resembled primitive germ cells with large vesicular nuclei, prominent nucleoli, prominent glycogen‐rich clear cytoplasm, lymphocyte infiltration, and infiltration cells along the fibrovascular septa. Cells of the lesions expressed c‐KIT, OCT4, and PLAP in an intense and diffuse manner. Given this information, the patient was diagnosed with pure pineal germinoma staged at M0.It was recommended for the patient to undergo four cycles of NC followed by WVR, according to current treatment guidelines.The external ventricular drain was removed and follow‐up cranioaxial MRI revealed a reduction in tumor size and a slight improvement in supratentorial ventriculomegaly without signs of ependymal activity or complications Figure . There wRadiotherapy simulation was completed during NC treatment to develop a treatment plan Figure . PlanninA post‐RT MRI (204 days post‐surgery) was compared to the post‐NC MRI, with the former showing a discrete decrease in the size of the tumor located in the pineal region. The tumor had a polylobulated morphology and had a heterogenous MRI signal with hypointense foci in the heme sequence in relation to calcifications and hemosiderin debris Figure . A reducA T1 and T2 MRI follow‐up 659 days post‐surgery revealed encouraging results, when compared to previous brain MRIs. There was a stability in the size, signal characteristics, and MRI sequence behavior of the tumor remnants. The pineal tumor remnant had a polylobulated morphology and heterogenous resonance signal, which is associated with aqueductal stenosis and mild retraction of the posterior margin of the mesencephalic tegmentum. However, the permeability of the ventriculocystostomy and ventricular system did not change. Additionally, the arachnoid grooves were present in both cerebral convexities. There were no other alterations in the encephalic parenchyma, except a small path present on the right frontal lobe due to the ventricular drain. From these findings, the patient was shown to have a stable case. The patient stated that he was pleased with the treatment and was able to return to his normal activities.An additional follow‐up 849 days after surgery revealed that the patient was asymptomatic except for diplopia. An MRI image revealed that the patient has stabilized and there were no new developments. Despite the diplopia, the patient was pleased with the treatment and was able to continue his normal activities.3We present a rare case of a 23‐year‐old male diagnosed with M0 primary pineal GN. The tumor was in the brain midline, where GN is usually foundAnalysis of CSF obtained from surgery revealed BHCG and AFP levels consistent with those of non‐secreting GCT, like germinoma, although germinoma cannot be definitively confirmed from these levels alone. Recommended thresholds for ruling out non‐secreting GCT in CSF are 50–100 IU/L for BHCG and 10–50 ng/ml for AFP. A more recent study based on pathology revised these levels to 8.2 IU/L for BHCG and 3.8 ng/ml for AFP to detect secreting GCT with high specificity, but lower sensitivity. The values determined here slightly exceed the recently recommended threshold for BHCG, but this threshold was designed to select for secreting tumors rather than eliminate non‐secreting tumors.Several studies Table  with difAlthough effective, concerns over long‐term toxicity of craniospinal RT led to research on narrowing the irradiation field.A further reduction to WVR by IMRT and three‐dimensional conformal radiation therapy (3DCRT) was also evaluated.Restricting the field beyond whole ventricles significantly and consistently increases the risk of relapse.With the development of platinum‐based chemotherapy agents, researchers explored combining RT and NC to reduce radiation dose and field. NC can reduce the size of the primary tumor and control microscopic diseaseBecause of the good prognosis of treatment, and multiple treatment protocols available, it is therefore no surprise that there are several different recommended treatment protocols Table , with soTherefore, treatment should balance curing the disease and preventing relapse with undesirable sequelae. It is currently unclear whether proposed NC protocols can be reduced in dose and/or number of sessions, while maintaining acceptable long‐term control of GN. For radiation therapy, IMRT WVR with an approximate 45 Gy dose seems to strike this balance, especially if the GN it is staged at M0. It may also be helpful to tune the RT dose depending on the response to NC, with complete response requiring a lower RT dose. This treatment protocol is like those developed for children diagnosed with GN, suggesting that adult GN may be treated using protocols developed for children with little modification. Additional case studies and trials will be necessary to further untangle the effects of different GN treatment protocols.The authors have stated explicitly that there are no conflicts of interest in connection with this article.Conceptualization, L.J.F.R., X.M.P.; investigation, L.J.F.R., X.M.P.; data curation, L.J.F.R., X.M.P.; writing of this article, L.J.F.R., X.M.P.All authors had full access to the data in the study and take responsibility for the integrity of the data and the accuracy of the data analysis. The study was approved by the relevant institutional ethics committee. Informed consent for publication was obtained from the patient.


Carinal re-resection for tumour recurrence is rarely performed due to increased difficulty in airway reconstruction. We reported a successful case of carinal resection and reconstruction for recurrent chondrosarcoma after previous distal tracheal resection. Due to the technical complexity of the reconstruction and the poor respiratory reserve of the patient, the veno-venous extracorporeal membrane oxygenation support was used. Carinal re-resection has been rarely performed and generally for complications (stenosis or anastomotic separation) of previous operation and very rarely for tumour recurrence [1], because of the increased difficulty in reconstructing the airway due to the length of resection. Carinal re-resection has been rarely performed and generally for complications (stenosis or anastomotic separation) of previous operation and very rarely for tumour recurrence , becauseA 78-year-old man presented with several-month history of cough and dyspnoea for minimal effort. He had undergone distal segmental tracheal resection  for a chondrosarcoma 10 years before at another hospital. Computed tomography scan demonstrated a 2.5 cm mass involving the carina and the proximal portion of the left main bronchus; an elevation of the right hemidiaphragm and a fibrotic left lung was also evident (Fig. After careful carinal dissection, the trachea and the right main bronchus were firstly transected under bronchoscopic guidance and lifted upwards to expose the left main bronchus distally to the lesion, where it was subsequently sectioned. The carinal specimen was then separated from any remaining mediastinal attachments with great care to preserve the left recurrent laryngeal nerve. The frozen section of tracheal and bronchial margins resulted negative for the presence of tumour. The pre-tracheal plane was bluntly dissected. After the intrapericardial release, 2 paired traction sutures on the tracheal and bronchial stumps were pulled-up together, in order to check the degree of tension. We opted for the Eschapasse technique , since tThe bronchoscopy on postoperative Day 7 showed no abnormal finding in the anastomotic sites. The postoperative course was uncomplicated and the patient was discharged after 8 days. At 6 months of follow-up, bronchoscopy showed intact and patent anastomoses Fig. B withoutCarinal resection and reconstruction for recurrent chondrosarcoma after previous tracheal resection is exceedingly rare , also duConflict of interest: none declared.


Immunopctively) . Howeverctively) . Moreoveic cases . The aimZFTA::RELA fusion). Central neuroradiological review confirmed that both tumors were located in the posterior fossa without a supratentorial component. Interestingly, both cases presented clinical and radiological similarities and were distinct from PFB: they concerned the youngest patients (aged 1 and 3 years-old) and were revealed by a solid tumor located in the upper part of the fourth ventricle towards the aqueduct (compared to other PFB from the cohort which were located in the lower part of the fourth ventricle and crossed the Magendie foramen). The two cases classified as spinal ependymomas were located in the medulla oblongata or at the bulbo-medullar junction in a context of neurofibromatosis type 2 (NF2).This pediatric series included 15 tumors initially diagnosed as PFB before the 2021 WHO guidelines, based on retained immuno-expression of H3K27me3. Subependymomas were excluded. The children were aged 1 to 17 years-old (median age: 11) with a female predominance (sex ratio: 1.5). A central neuroradiological review confirmed that all tumors were located in the posterior fossa. The DNA-methylation profiling classified tumors into four groups: PFB (n = 9), PFA  (n = 2), supratentorial ependymomas, ZFTA-RELA fusion positive (n = 2), and spinal ependymomas (n = 2) (Table ZFTA-fusion positive (13.3%), and two NF2-associated spinal ependymomas (13.3%). The last case (#11) remained not elsewhere classified (NEC) posterior fossa ependymoma (6.7%) because of the discrepancy between immunohistochemistry and DNA-methylation profiling (performed two times). Further similar EPN, NEC cases are needed to clarify their classification and the existence of other potential diagnostic biomarkers. Previously, infratentorial (one cervicomedullary and two cerebellar) ependymomas, ZFTA-fusion positive  were reported in children aged 3, 4 and 11 years [ZFTA-fused [ZFTA fusion can occur in the posterior fossa, and therefore, constitutes a potential diagnostic pitfall. In these conditions, L1CAM and NFκB immunostainings may represent useful diagnostic biomarkers in the detection of ZFTA-fused cases. Interestingly, ZFTA-fusion positive posterior fossa ependymomas seem to occur more frequently in younger patients than pediatric PFB, which are very rare before adolescence [Herein, the integrative histopathological, genetic and epigenetic analyses, including t-SNE Fig.  segregatpositive 3.3%, andIn conclusion, the results of this pediatric series are in line with the newly established essential diagnostic criteria for PFB in the WHO classification. A diagnosis of pediatric PFB ependymoma cannot be proposed solely based on the retention of H3K27me3 immunoexpression, as they encompass at least three different histomolecular tumoral types. Our study highligths also the importance of the integration of clinical, radiological, and neuropathological data to achieve an accurate diagnosis. According to our results, it may be recommended to perform L1CAM and NFκB immunohistochemistry and to search for clinical and radiological criteria for NF2 before performing DNA-methylation profiling for the differential diagnosis of pediatric PFB ependymoma.Additional file 1: Fig. S1. Radiological and histomolecular features of reclassified posterior fossa ependymomas as spinal ependymomas Case 12 (A–E): A–C IRM in a NF2 patient showing bilateral vestibular schwannomas, multiple meningiomas  and a median intra-parenchymal mass with high contrast enhancement in the bulbo-medullary junction. D Ependymoma with tanycytic features . E H3K27me3 immunopositivity in the tumor cells (40 × magnification). Case 13: F IRM showing a large median mass originating from the medulla oblongata and exophytic in the fourth ventricle with a heterogeneous enhancement after injection of gadolinium. G Heterogeneous intensity on T2-weighted image. H Ependymal proliferation with pseudorosettes . I H3K27me3 immunopositivity in the tumor cells (40 × magnification). HPS: hematoxylin, phloxin and saffron. Black scale bars represent 50 μm.Additional file 2: Fig. S2. Radiological and histomolecular features of posterior fossa ependymomas, ZFTA-fusion positive. Case 14: A IRM showing median mass located in the upper part of the fourth ventricle towards the aqueduct on T1-weighted image. B Heterogeneous signal on T2-weighted image. C Ependymal proliferation with pseudorosettes . D H3K27me3 immunopositivity in the tumor cells (40 × magnification). E Nuclear NFκB immunoexpression by tumor cells (40x magnification). Case 15: F IRM showing a median mass located in the upper part of the fourth ventricle towards the aqueduct on a T2-weighted image. G Heterogeneous enhancement after injection of gadolinium. H Highly cellular ependymal proliferation . I H3K27me3 immunoreactivity in the tumor cells (40 × magnification). J NFκB expression by tumor cells (40 × magnification). K RNAseq analysis highlights a fusion between ZFTA and RELA genes in each case, with a breakpoint at the exon 3 and 2 for ZFTA and at the exon 2 for RELA. HPS: hematoxylin, phloxin and saffron. Black scale bars represent 50 μm.Additional file 3: Fig. S3. Immunohistochemical features of the posterior fossa ependymoma, not elsewhere classified. Case 11: A Heterogeneous expression of H3K27me3 (40 × magnification). B No immunoexpression for EZHIP (40 × magnification). Black scale bars represent 50 μm.Additional file 4: Fig. S4. Uniform Manifold Approximation and Projection for Dimension Reduction (UMAP) analysis of DNA methylation profiles of the investigated tumors alongside selected reference samples Reference DNA methylation classes: diffuse midline glioma H3 K27M mutant (DMG_K27), diffuse midline glioma EGFR_altered (DMG_EGFR), diffuse midline glioma EZHIP_overexpressed (DMG_EZHIP), low-grade glioma, ganglioglioma (GG), ependymoma, myxopapillary (EPN_MPE), ependymoma, posterior fossa group A (EPN_PFA), ependymoma, posterior fossa group B (EPN_PFB), ependymoma, ZFTA fusion (EPN_ZFTA), ependymoma, spinal (EPN_SPINE), ependymoma, YAP fusion (EPN_YAP), subependymoma, posterior fossa (EPN_PF_SE), subependymoma, spinal (EPN_SPINE_SE), subependymoma, supratentorial (EPN_ST_SE).


Intestinal malrotation is a rare clinical entity that occurs in 1/6000 live births. Acute appendicitis (AA) is commonly recognized clinically by migratory right iliac fossa pain. We present a rare case of AA in a patient with previously undiagnosed IM that posed a diagnostic challenge due to abnormal caecal location, which was managed by a laparoscopic approach. The presence of undiagnosed congenital anomalies such as IM can render diagnosis of even seemingly straightforward conditions such as AA challenging, meaning that the presence of classical clinical findings cannot always be relied upon. One should have a low threshold for performing cross-sectional imaging in cases where clinical findings do not yield a satisfactory diagnosis. The adult patient with AA in the context of incidental type 1 IM can be managed laparoscopically by a simple modification of standard technique, without the need to correct malrotation, thus allowing the patient to benefit minimally invasive surgery. Acute appendicitis (AA) is frequently associated with a classical presentation of abdominal pain that originates centrally before localizing to the right iliac fossa . When a Intestinal malrotation (IM) is a congenital anomaly referring to the nonrotation or incomplete rotation of the intestines around the axis of the superior mesenteric artery (SMA) during foetal development . There aA 47-year-old female with no significant past medical history presented to the emergency department with a one-day history of left iliac fossa (LIF) pain. Her abdomen was tender and guarded in the LIF. Baseline laboratory investigations revealed raised inflammatory markers. An ultrasound of the abdomen was performed, which revealed no demonstrable cause for the clinical picture. This was followed by computed tomography (CT) of the abdomen and pelvis. This revealed the presence of a type 1 IM, with the small bowel on the right side of the abdomen, the large bowel on the left and an inversion of the normal anatomical relationship of the SMA and superior mesenteric vein (SMV). A dilated blind-ending tubular structure that was 1.6 cm in diameter with associated fat-stranding and free fluid was noted in the mid-abdomen and was arising from the left-sided caecum, in keeping with a diagnosis of AA.®  and extracted via the subumbilical incision by a specimen retrieval bag. The patient made an uneventful recovery and remains well at postoperative follow-up, with histopathological analysis confirming AA.The patient underwent surgical exploration by laparoscopy via a 12-mm balloon port placed subumbilical by Hasson technique. Given the abnormal location of the caecum, the standard laparoscopic port placement for an appendicectomy was modified accordingly, with two 5-mm ports inserted under laparoscopic vision in the right iliac fossa (RIF) and suprapubic region, respectively, allowing for optimal triangulation of the target anatomy. A thorough diagnostic laparoscopy concurred with the radiological findings, with a small bowel walk from the right-sided duodenojejunal flexure to the left-sided terminal ileum yielding no further abnormality . FollowiIn this case, a common condition that would usually pose no diagnostic or therapeutic challenge to the experienced surgeon overlapped with an exceedingly rare developmental anomaly, creating a clinical scenario that posed high risk of a potentially devastating delay in diagnosis. It is essential to be aware that, even in the context of normal anatomy, the classical clinical picture of migratory RIF pain and associated abdominal signs only occurs in 50% of patients . AccordiWhile AA in IM has been described in a small number of previously published cases, many of these were managed by laparotomy . The indIn conclusion, the presence of undiagnosed congenital anatomical variations such as IM can make the diagnosis of even the most seemingly straightforward conditions such as AA challenging, meaning that the presence of classical clinical findings cannot always be relied upon. Thus, one should have a low threshold for performing cross-sectional imaging in cases where history and examination does not yield a satisfactory diagnosis. The adult patient with AA in the context of incidental type 1 IM can be managed laparoscopically by a simple modification of standard technique, without the need to correct malrotation, thus allowing the patient to benefit from the advantages of minimally invasive surgery.None to declare.No funding received.Obtained from the patient and documented in the medical notes.


Acute cholecystitis, which is usually associated with gallstones is one of the most common surgical causes of emergency hospital admission and may be further complicated by mural necrosis, perforation and abscess formation. Perforation of the gallbladder is a relatively uncommon complication of acute cholecystitis (0.8–3.2% in recent reviews). The intrahepatic perforation causing a liver abscess is an extremely rare condition, anecdotally reported in the scientific literature, even in the rare types of subacute or acute perforation. Liver abscess caused by gallbladder perforation can be a life-threatening complication with a reported mortality of 5.6%. The treatment of synchronous pyogenic liver abscess and acute cholecystitis may be challenging. We reported three cases of liver abscess due to acute cholecystitis in which different therapeutical approaches were employed. The first case was treated with antibiotics and interval laparoscopic cholecystectomy; the second case was treated with emergency cholecystectomy; and the third case with percutaneous aspiration of the abscess only. The appropriate therapeutical method in these cases depends on the patient’s clinical condition, the on-site expertise that is available in the hospital, and the experience of the surgeon. A pyogenic liver abscess (PLA) is a rather rare entity with an increasing level of occurrence in western countries ranging from 1.1/100,000 to 3.6/100,000 people, and a substantial mortality rate which is estimated to be between 5.6 and 10%. Mortality may even reach 22% when there are multiple PLAs [There are limited published cases pertaining to cholecystitis that is complicated by a synchronous liver abscess ,4,5,6,7.Previously published studies found that severe local inflammation, as well as a high Charlson Comorbidity Index (CCI) score and high values of total bilirubin could favor open surgery or conversion. Other unquantifiable factors, such as local anatomy, tissue friability, or the surgeon’s experience may play a significant role in the decision to convert to open surgery. There are concerns about using the laparoscopic approach in patients with respiratory and cardiovascular comorbidities due to the metabolic effects of the induced pneumoperitoneum. This loss of reserve capacity is the single most important factor that decreases the elderly patient’s ability to tolerate operations. The proper management of fluid and electrolyte replacement, respiratory management to prevent atelectasis and pneumonia, and monitoring for possible cardiac complications are necessary to minimize the risk of systemic complications in the perioperative period ,17,18,19Although the same observation applies in patients suffering from diabetes mellitus (DM), these patients tend to develop more severe complications, have longer hospital stays, and suffer higher fatality rates . Some stIn this article, we report three cases of patients with cholecystitis and synchronous liver abscess where the therapeutical approaches were different. The first case was treated with antibiotics and interval laparoscopic cholecystectomy, the second case was treated with emergency cholecystectomy and the third case with percutaneous aspiration only.A 69-year-old Caucasian woman presented to the emergency department because of acute epigastric pain radiating to her back of a 10-h duration. The patient reported that she had a similar incident six months ago; however, no diagnosis for that episode was sought or provided. She had a history of type 2 diabetes mellitus and arterial hypertension. Her regular medications consisted of metformin 850 mg b.d. and olmesartan 40 mg o.d.Her vital signs were within normal values except for the presence of hypertension (BP 180/101 mmHg), while the physical exam was significant only for tenderness in the epigastric region. Initial laboratory values revealed normal white blood cell levels, elevated liver enzymes SGOT 8.6667 μmol/(s•L), SGPT 6.2833 μmol/(s•L); a total bilirubin of 33.35 •mol/L, CRP 1820 nmol/L; and normal amylase levels.The chest and abdominal X-rays were normal. An abdominal ultrasound exam was performed which revealed a distended gallbladder with multiple intraluminal stones, the biggest one measuring 2 cm. The diameter of the gallbladder was measured at 9.5 cm without the presence of pericholecystic fluid. The ultrasound also revealed intrahepatic ductal dilatation and a common bile duct of 10 mm in diameter, containing possible hyperechoic masses. The patient was admitted to the ward and began treatment with I.V antibiotics consisting of ciprofloxacin and metronidazole.During hospitalization, the patient remained hemodynamically stable and the pain gradually subsided. Later on, after four days of hospitalization, a new ultrasound was performed that revealed a normal appearing liver with homogeneous texture and relatively elevated echogenicity, due to grade I fatty infiltration. The intrahepatic ducts, as well as the bile duct were not dilatated and the gallbladder appeared distended with a diameter of 5 cm, exhibiting wall thickening and intraluminal stones. The same day, the clinical status of the patient deteriorated. The patient became febrile (38 °C) with pain upon palpation of the right upper abdominal quadrant. Laboratory tests revealed the presence of obstructive jaundice and the levels of CRP raised to 2914.3 nmol/L. The antibiotic treatment was upgraded to piperacillin/tazobactam with the addition of metronidazole. On the patient’s seventh day of hospitalization, a magnetic resonance cholangiopancreatography (MRCP) with (IV) contrast injection was performed. This revealed an over-distended gallbladder with sludge and lithiasis, as well as mural thickening with contrast enhancement. In the non-dependent area of the gallbladder there was a T2w hyperintense region, demonstrating restricted diffusion. The exam also revealed a disruption of the gallbladder wall which displayed as a mural defect. In this area, a 3 cm collection with stratified signal abutting the gallbladder fundus and causing intrahepatic biliary dilatation was shown. There was bile leakage into the adjacent liver parenchyma due to perforation, resulting in the formation of an intrahepatic abscess .The patient initially opted for non-operative management, although the relevant risks were clearly communicated to her. She continued to be treated with piperacillin/tazobactam/metronidazole and her fever, as well as her pain, finally resolved on the 10th day. The inflammation markers improved within three days and the patient was discharged after 15 days of hospitalization. She was kept on oral ceftoral at 400 mg o.d. for four days and suggested a diet free of fat. A follow-up visit and a repeat ultrasound were scheduled 15 days later. On her follow-up visit, the patient was asymptomatic. A repeat ultrasound, performed 22 days after discharge, was only significant for a nondistended gallbladder, albeit with the presence of intraluminal stones and bile. Thirty-eight days later, the patient was readmitted to the hospital with a presumed diagnosis of cholangitis. Her vital signs were within normal range and the physical exam showed hyperactive bowel sounds and mild tenderness while palpating the right upper quadrant. The laboratory results were unremarkable except for an elevated CRP at 895.23 nmol/L.A new MRI was performed which showed an over-distended gallbladder with diffuse mural thickening and contrast enhancement, findings consistent with acute cholecystitis. No perforation of the gallbladder was shown, as well as no choledocholithiasis, nor dilatation of the common bile duct . The patient was again hospitalized for eight days and treated with piperacillin/tazobactam. Seven days after discharge, she underwent an elective laparoscopic cholecystectomy with an uneventful postoperative course. The patient was discharged on the first postoperative day with oral antibiotic treatment for two more weeks while a follow-up visit did not reveal any further complications.A 79 year-old Caucasian man presented to the emergency department due to acute pain during the last 24 h, originating from the right upper quadrant. The patient mentioned the presence of a mild, intermittent pain in the same area during the previous month. He also complained about anorexia, nausea, and fever during the last four days. On admission, he was febrile (39 °C) with otherwise normal vital signs. The clinical examination revealed tenderness in the right upper quadrant with a positive Murphy’s sign, while no palpable mass was appreciated. The pain was aggravated by respiratory movement and no other symptoms were reported. Laboratory studies were significant for leucocytosis (21.19 K/μL), an elevated CRP of 1333.3 nmol/L, γGT 4.56 μmol/(s•L) and total bilirubin at 25.65 •mol/L. An abdominal CT scan detected a nonhomogeneous, hypodense mass in the right lobe of the liver, while a small discontinuation of the thickened gallbladder wall was evident and in communication with the intrahepatic collection. The CT scan also revealed a large stone causing gallbladder neck obstruction a,b.Magnetic resonance imaging (MRI) showed a nodular liver lesion with rim enhancement occupying the fourth and eighth segments in continuation with the over-distended and inflammatory gallbladder. It also revealed a large stone causing gallbladder neck obstruction, plus diffuse mural thickening with alternating layers of abnormal signal, as well as pericholecystic and perihepatic fluid. All these findings were consistent with the presence of a liver abscess c.The patient was admitted with the diagnosis of acute cholecystitis complicated by an intrahepatic abscess. He underwent emergency open cholecystectomy, due to the impacted large stone in the neck of the gallbladder . At the The patient’s postoperative course was uneventful and the drains were removed on the second (the intracavitary one) and third (subhepatic one) postoperative day. A follow-up CT scan showed that the abscess cavity had disappeared. He was discharged from the hospital five days after surgery on oral antibiotics (ciprofloxacin 500 mg b.d.) for 2 weeks and prescribed home wound care. A follow-up visit did not reveal any complications.A 54-year-old Caucasian man presented to the emergency department because of a 12-h acute pain that was localized in the right upper abdominal quadrant, and a fever of 39 °C. He was discharged one week prior from another hospital with the diagnosis of acute cholecystitis in remission complicated by a liver abscess. He had been receiving metronidazole PO for seven days.The patient had no significant past medical history except for his previous hospitalization, a chronic alcohol consumption (four drinks per day), and a smoking history of 350 cigarettes/week. The patient had no known drug allergies and he reported no environmental, food, or seasonal allergies.On arrival, a physical examination revealed pain in the right hypochondrium during deep palpation, with rebound tenderness, a positive Murphy’s sign without hepatosplenomegaly, and present bowel sounds. His vital signs were normal except for a temperature of 39.5 °C and his laboratory results were significant for leucocytosis (18.09 K/μL), abnormal ALP levels of 5.62 μmol/(s•L), and a raised CRP at 125.34 •mol/L. An abdominal CT revealed an enlarged liver and a complex low-attenuation mass in the upper margin of the gallbladder. After contrast injection, this mass showed a peripheral enhancement forming a hyperdense border, the so-called “ring sign”, without central enhancement. This finding was consistent with an abscess. The gallbladder demonstrated uniform wall thickening .Klebsiella oxytoca and Escherichia coli. The patient responded well to aspiration and antibiotic therapy and the inflammatory markers improved. He was discharged the next day on oral antibiotics for two weeks with a scheduled follow-up to arrange for interval cholecystectomy.The patient was admitted with the diagnosis of acute cholecystitis complicated by an intrahepatic abscess. He was immediately treated with I.V antibiotics  and an ultrasound-guided cholecystostomy was carried out, during which 100 mL of pus was aspirated . CultureA follow-up CT scan was performed which revealed complete resolution of the liver abscess, as well as a mild wall thickening of the gallbladder with pericholecystic, inflammatory changes . The patTen to twenty percent of the adult population is affected by cholelithiasis, while only 1–2% of people with cholelithiasis will suffer from acute cholecystitis during their lifetime. Gallbladder perforation (GBP) is a rare complication of acute cholecystitis that was first described by Duncan  in 1844 The pathophysiology of acute cholecystitis originates most commonly from the persistent occlusion of the cystic duct by an impacted stone (90–95%), an occlusion that causes biliary stasis, increased gallbladder wall tension and subsequently, epithelial injury, the release of phospholipases, the degradation of adjacent cell membranes and intense inflammatory reaction . Life-thGallbladder perforations are classified following Niemeir’s proposal in 1934, which is based on the direction of the perforation and the acuity of the underlying process . BrieflySeveral risk factors for PLAs, except for biliary disease have been identified, such as cirrhosis, diabetes mellitus, liver transplantation and malignancy. Diabetes mellitus has been estimated to complicate the clinical course of half of the patients that are treated for PLA and in need of treatment in an intensive care unit ,41.A useful distinction of pyogenic liver abscesses differentiates them as “pericholecystic”, that mainly involve liver segments IV or V, and “distant”, that may be located elsewhere in the liver parenchyma ,41. It hThe clinical presentation of patients suffering from acute cholecystitis complicated by perforation and abscess formation is often non-specific, in that both acute cholecystitis complicated by PLA formation and uncomplicated acute cholecystitis may present with a similar clinical picture and laboratory findings. Therefore, a diagnosis of synchronous PLA and acute cholecystitis may be difficult to establish based solely on clinical and laboratory data . One disImaging may help to distinguish between acute cholecystitis complicated by PLA and uncomplicated acute cholecystitis. Ultrasound is usually the first imaging method that is employed for patients suspected of having acute cholecystitis and it can be useful for evaluating a possible GBP. Detecting a defect in the gallbladder wall (“the hole sign”) is the only reliable sign of gallbladder perforation (55–70% sensitivity) ,44, whilCT scans have the advantage of a better representation of extensive findings because of the bigger field of view, and they may demonstrate the extension of a lesion more clearly. CT may be extremely useful, especially in cases of discrepancies between clinical symptoms and an inconclusive ultrasound. It may also be used to evaluate for possible complications of acute cholecystitis and to better plan the possible surgery. However, regarding the detection of GBP, CT’s sensitivity is only a little better than ultrasound’s (80% sensitivity) . In ordeA CT scan, however, involves exposure to ionizing radiation and the administration of intravenous contrast, which may cause acute kidney injury to volume-depleted patients. Furthermore, CT is unreliable for identifying gallstones as it underestimates gallbladder wall thickening and cannot detect a positive Murphy’s sign. Therefore, MRI may be employed as it allows for the accurate preoperative diagnosis of complications of cholecystitis, such as intramural necrosis, perforation and the presence of PLA. The drawbacks of this method include the fact that it is contraindicated in patients with cardiac pacemakers or implantable devices, and that its usefulness is limited in uncooperative or severely ill patients .Various options exist for the treatment of patients who suffer from synchronous pyogenic liver abscess and acute cholecystitis. Nowadays, the recommended approach to PLA is mostly nonsurgical and relatively straightforward  . DespiteSome authors managed such conditions with an open approach with an en-bloc resection of the abscess, the gallbladder and the gallbladder bed, as an atypical resection of liver segment V . Others Gallbladder perforations that lead to liver abscesses are a rare complication of acute and chronic disease of the gallbladder, while intrahepatic perforations are even rarer. The appropriate therapeutic method in these cases depends on the patient’s clinical condition, the on-site expertise that is available at the hospital, and the experience of the surgeon. In our institution, all three approaches resulted in curing the patients.


Angiokeratomas are benign vascular lesions that can occur anywhere in the body. Fordyce angiokeratomas, also known as genital angiokeratomas, often develop on the vulva in women and the scrotum in males. A subtype of genital angiokeratoma in males is called penile angiokeratoma (PEAKER). In females, clitoral angiokeratoma (CLANKER) is the embryologic equivalent. As a result of the underlying pathophysiology, these lesions are often bilateral. Unilateral Fordyce angiokeratoma instances are infrequent, and unilateral PEAKER cases have never been previously documented. We describe a case of Fordyce's unilateral angiokeratoma with unilateral PEAKER. To the best of our knowledge, such a variation in presentation of this rare disease has not been previously reported. Angiokeratomas are benign vascular lesions distinguished by dilated superficial blood vessels and underlying hyperkeratosis. Imperial and Helwig developed a taxonomy of angiokeratoma in February 1967 . A 60-yeA 30-year-old man, who had developed several asymptomatic cutaneous lesions on his scrotum over three years, presented to our hospital due to a rapid increase in the size of the lesions. His medical background showed no significant comorbidities. Upon examination, several red-purple papules with a diameter of 2 to 3 mm, which only affected the right side of the scrotum and did not cross the midline, were found. Two similar lesions were noted on the right side of the penis, which did not cross the midline either Figure . The angDilated blood vessels were seen in the papillary dermis of the biopsy specimen of the lesions from the scrotum and penis. The epidermis was in close touch with these ectatic veins, and they had focal thrombosis Figure . AccordiThe patient was treated with cryotherapy and showed an excellent clinical response to treatment with all lesions resolving without scarring or recurrence at 12 weeks of follow-up Figure .Although it can occasionally appear in infancy or adolescence, angiokeratoma of Fordyce primarily manifests in late adulthood or older adults. The lesions are often bilateral, numerous, and occur on the scrotum. However, they can occasionally be detected on the thighs, buttocks, belly, or shaft or glans of the penis . ScrotalRegarding the last point, scrotal angiokeratoma may occur as a result of certain disorders that might raise the blood pressure in the scrotal veins, including hernias, epididymal or urinary tract tumors, and notably varicoceles.Unilateral angiokeratoma of the scrotum has been very rarely reported. Only five cases of unilateral scrotal angiokeratoma have been documented in the literature . Also, oWe want to draw attention to some significant differences by contrasting our case with those previously reported. In all prior cases, angiomatous lesions were associated with a varicocele . Three oHowever, in our case, the angiokeratomas were peculiarly isolated to the right scrotum and unrelated to a varicocele. Given that varicoceles are relatively prevalent, the correlation of angiokeratomas with them in the above examples may be coincidental. However, it is also probable that the ipsilateral varicocele in individuals with unilateral angiokeratomas and angiomatous lesions contributed to their higher venous pressure. Also, the lesions over the penis did not cross the midline, as seen in all other previously reported cases.It was unclear why the angiomatous lesions in our case manifested unilaterally. Mosaicism, which would limit the development of angiokeratomas to genetically sensitive regions, might be one explanation. In this regard, it has been hypothesized that, at least in some cases, scrotal angiokeratomas may result from a congenital abnormality affecting the walls of the venules . HoweverThe treatment options include excision, curettage and cautery, radiofrequency cautery, sclerotherapy, cryotherapy, and laser ablation. Among these, the potassium-titanyl-phosphate (KTP) laser and the 800 nm diode laser are considered to generate the most negligible scarring . For theThe article discusses a rare mix of clinical manifestations of an uncommon illness. The treating surgeon or dermatologist has always faced a clinical conundrum when treating patients with scrotal and penile angiokeratomas. The patient in this report showed a unilateral angiokeratoma of Fordyce with unilateral angiokeratoma of the penis, without any underlying comorbidities. Such a presentation of the disease is extremely rare. Additionally, this report demonstrates that correctly administered cryotherapy is a successful way to treat this illness.With this report, we aim to add to the existing literature and expand the spectrum of presentation of genital angiokeratoma, thus enabling a more accurate clinical diagnosis and effective treatment of the illness.