Alagille syndrome with prominent skin manifestations.
Indian J Dermatol Venereol Leprol
;
2005 Mar-Apr; 71(2): 119-21
Artigo
em Inglês
| IMSEAR
| ID: sea-53125
ABSTRACT
Alagille syndrome, a rare genetic disorder with autosomal dominant transmission, manifests 5 major features paucity of interlobular bile ducts, characteristic facies, posterior embryotoxon, vertebral defects and peripheral pulmonic stenosis. We report a 6-year-old male child who presented with a history of progressive jaundice since infancy, generalized pruritus and widespread cutaneous xanthomata. He was also found to have obstructive jaundice, pulmonary stenosis with ventricular septal defect and paucity of bile ducts in liver biopsy. Histopathology confirmed skin lesions as xanthomata. The child was diagnosed as a case of Alagille syndrome. This particular syndrome with prominent cutaneous manifestations has been rarely reported in the Indian literature.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Dermatopatias Genéticas
/
Humanos
/
Masculino
/
Criança
/
Síndrome de Alagille
Idioma:
Inglês
Revista:
Indian J Dermatol Venereol Leprol
Ano de publicação:
2005
Tipo de documento:
Artigo
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