Case Report - Encephalocraniocutaneous lipomatosis: A rare neurocutaneous syndrome

Encephalocraniocutaneous lipomatosis is a congenital hamartomatous disorder with unique ocular, cutaneous and neurological features. A 13-year-old boy presented with history of mental retardation and delayed developmental milestones. Bulbar conjunctiva of left eye showed hypertrophy with a soft redd...

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Bibliographic Details
Published inIndian journal of dermatology, venereology, and leprology Vol. 73; no. 1
Main Author Gokhale NR, Mahajan PM, Belgaumkar VA, Pradhan SN, Uttarwar NS
Format Journal Article
Published India Medknow Publications on behalf of The Indian Association of Dermatologists, Venereologists and Leprologists (IADVL) 10.03.2007
Subjects
Cranial
Cutaneous
Lipomas
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Summary:Encephalocraniocutaneous lipomatosis is a congenital hamartomatous disorder with unique ocular, cutaneous and neurological features. A 13-year-old boy presented with history of mental retardation and delayed developmental milestones. Bulbar conjunctiva of left eye showed hypertrophy with a soft reddish limbal nodule encroaching on the cornea. Dermatological examination showed multiple patches of alopecia, soft papules in the left perioral and periorbital areas, soft masses over the right axilla, trunk and in the lumbosacral region suggestive of lipomas. The CT scan of the brain revealed well-defined, hypodense lesions in both the cerebellar hemispheres suggestive of lipomas. The constellation of these findings led us to a diagnosis of encephalocraniocutaneous lipomatosis.
ISSN:0378-6323