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Indian Journal of Dermatology, Venereology and Leprology
Medknow Publications on behalf of The Indian Association of Dermatologists, Venereologists and Leprologists (IADVL)
ISSN: 0378-6323
EISSN: 0378-6323
Vol. 73, No. 1, 2007, pp. 40-42
Bioline Code: dv07011
Full paper language: English
Document type: Research Article
Document available free of charge

Indian Journal of Dermatology, Venereology and Leprology, Vol. 73, No. 1, 2007, pp. 40-42

 en Case Report - Encephalocraniocutaneous lipomatosis: A rare neurocutaneous syndrome
Gokhale NR, Mahajan PM, Belgaumkar VA, Pradhan SN, Uttarwar NS


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.

Cutaneous, Cranial, Lipomas

© Copyright 2007 Indian Journal of Dermatology, Venereology and Leprology.
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