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  • Title: Unusual clinical manifestations in a case of Alagille syndrome.
    Author: Gadkari R, Doshi B, Nayak C, Ghildiyal R, Madke B, Ghia D.
    Journal: Pediatr Dermatol; 2014; 31(5):599-602. PubMed ID: 25333075.
    Abstract:
    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.
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