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.
Subject(s)
Adolescent , Brain Diseases/congenital , Hamartoma/congenital , Humans , Lipomatosis/congenital , Male , Neurocutaneous Syndromes/congenital , Rare Diseases/pathology , Skin Diseases/congenitalABSTRACT
A case of multiple giant congenital melanocytic naevi in whom central nervous system melanosis was detected at 6 weeks of age is described. The infant was asymptomatic, but presence of risk factors such as multiple naevi, giant naevi and naevi on scalp and posterior axial location prompted a magnetic resonance imaging study of the brain. To our knowledge, neurocutaneous melanosis at such a young age has not been reported in Indian literature.