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Indian Journal of Dermatology, Venereology and Leprology
Medknow Publications on behalf of The Indian Association of Dermatologists, Venereologists and Leprologists (IADVL)
ISSN: 0378-6323 EISSN: 0378-6323
Vol. 71, No. 2, 2005, pp. 119-121
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Bioline Code: dv05037
Full paper language: English
Document type: Research Article
Document available free of charge
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Indian Journal of Dermatology, Venereology and Leprology, Vol. 71, No. 2, 2005, pp. 119-121
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Case Report - Alagille syndrome with prominent skin manifestations
Sengupta Sujata, Das JayantaKumar, Gangopadhyay Asok
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.
Keywords
Alagille syndrome, Arteriohepatic dysplasia, Xanthomata
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