Encephalocraniocutaneous lipomatosis: a rare neurocutaneous syndrome.
Indian J Dermatol Venereol Leprol
;
2007 Jan-Feb; 73(1): 40-2
Artigo
em Inglês
| IMSEAR
| ID: sea-52237
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.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Dermatopatias
/
Encefalopatias
/
Humanos
/
Masculino
/
Adolescente
/
Síndromes Neurocutâneas
/
Doenças Raras
/
Hamartoma
/
Lipomatose
Idioma:
Inglês
Revista:
Indian J Dermatol Venereol Leprol
Ano de publicação:
2007
Tipo de documento:
Artigo
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