Encephalocraniocutaneous lipomatosis with calvarial exostosis - Case report and review of literature
A 21-year-old female presented with skin-colored swelling over right frontotemporal region, present since birth. It was hard to touch with adjoining area of soft tissue. The overlying skin was devoid of hair. At birth, she was also noted to have a nodular lesion in the right upper eyelid and scleral mass in the right ocular globe. A few small skin nodules were also present over ipsilateral side of the face []. All these cutaneous and ocular lesions were increasing in size in proportion to patient's generalized body growth. The scleral mass was now interfering with her vision, so the patient wanted its removal. She also wanted surgical correction of the scalp swelling for cosmetic reasons. She had no history of seizures and neurological examination was unremarkable. Plain computed tomography (CT) and magnetic resonance imaging (MRI) brain were done to exclude intracranial and intraorbital extension of these lesions. The right frontotemporal scalp lesion was diagnosed as subcutaneous lipoma as it gave fat signal on T1W images and was suppressed on fat-saturated T1W [Figures and ]. Also, on plain CT, it had fat HU value of −60 to −80 HU. A large right temporal exostosis was seen within this scalp lipoma []. However, no intracranial extension of this lesion was seen. The soft tissue in the right upper eyelid gave fat attenuation and signal at places, hence possibility of dermolipoma was considered [Figures and ]. The scleral mass had no intraorbital extension. On MRI, a lipoma was found in the middle cranial fossa on the right side, adjacent to the temporal lobe and reaching up to right cerebellopontine cistern [Figures and ]. MRI of the whole spine was also done, but no abnormality was detected. In view of the imaging and constellation of clinical features, the final diagnosis of ECCL was given.\nThe original diagnostic criteria for ECCL were proposed by Hunter in 2006.[] The revised criteria were given by Ute Moog in 2009[] for definite/proven and possible ECCL cases [], excluding the third group of probable ECCL as given by Hunter. In the revised criteria for ECCL, there are one major and three minor criteria involving ocular system, three major and five minor criteria involving cutaneous system, and three major and six minor criteria for CNS involvement. Three major criteria are also seen involving the other systems.\nThree systems involved, major criteria in ≥2, or Three systems involved, proven NP or possible NP + ≥1 of the minor skin criteria 2-5, or Two systems involved with major criteria, one of which is proven NP or possible NP + ≥1 of the minor skin criteria 2-5.\nTwo systems involved, major criteria in both Two systems involved, proven or possible NP.\nOur case fulfilled the criteria for definite diagnosis for ECCL with three main systems’ involvement. The two major criteria in our case were eyelid choristoma and intracranial lipoma. The minor criteria were possible NP (in the absence of histopathologic confirmation), patchy non-scarring alopecia, subcutaneous lipoma in right frontotemporal region, and small nodular skin tags over ipsilateral face. Additionally, our case had a large temporal calvarial exostosis not reported earlier in the literature.