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Year : 2007  |  Volume : 73  |  Issue : 1  |  Page : 40--42

Encephalocraniocutaneous lipomatosis: A rare neurocutaneous syndrome

Department of Dermatology, B. J. Medical College and Sassoon General Hospitals, Pune, Maharashtra, India

Correspondence Address:
N R Gokhale
39/30, Smruti Lane 9, Prabhat Road, Pune - 411 004
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0378-6323.30651

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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.


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Online since 15th March '04
Published by Wolters Kluwer - Medknow