Unusual Clinical Manifestations in a Case of Alagille Syndrome

Alagille syndrome, also known as arteriohepatic dysplasia, is a multisystem autosomal dominant disorder characterized by chronic cholestasis due to a paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis with associated vertebral, ocular, and renal anomalies, and characteristic fa...

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Veröffentlicht in:Pediatric dermatology 2014-09, Vol.31 (5), p.599-602
Hauptverfasser: Gadkari, Reshma, Doshi, Bhavana, Nayak, Chitra, Ghildiyal, Radha, Madke, Bhushan, Ghia, Deepti
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Sprache:eng
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Zusammenfassung:Alagille syndrome, also known as arteriohepatic dysplasia, is a multisystem autosomal dominant disorder characterized by chronic cholestasis due to a paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis with associated vertebral, ocular, and renal anomalies, and characteristic facies. We report a case of Alagille syndrome in a 3‐year‐old boy with associated pruritus, follicular keratoses, palmar pits, and keratoderma‐like changes over the dorsum of the hands. There have been single isolated case reports of phrynoderma and keratoderma. Palmar pits have not been reported in the literature.
ISSN:0736-8046
1525-1470
DOI:10.1111/pde.12132