title: Encephalocraniocutaneous lipomatosis: a rare neurocutaneous syndrome.
abstract: 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.
authors.affiliation: Department of Dermatology, B. J. Medical College and Sassoon General Hospitals, Pune, Maharashtra, India. neetugokhale@yahoo.com
authors.forename: N R
authors.initials: NR
authors.lastname: Gokhale
authors.forename: P M
authors.initials: PM
authors.lastname: Mahajan
authors.forename: V A
authors.initials: VA
authors.lastname: Belgaumkar
authors.forename: S N
authors.initials: SN
authors.lastname: Pradhan
authors.forename: N S
authors.initials: NS
authors.lastname: Uttarwar
mesh_terms: D000293:Adolescent; D001927:Brain Diseases / Q000151:congenital / Q000473:pathology*; D006222:Hamartoma / Q000151:congenital / Q000473:pathology*; D006801:Humans; D008068:Lipomatosis / Q000151:congenital / Q000473:pathology*; D008297:Male; D020752:Neurocutaneous Syndromes / Q000151:congenital / Q000473:pathology*; D035583:Rare Diseases / Q000473:pathology; D012871:Skin Diseases / Q000151:congenital / Q000473:pathology*