Premium
Unusual Clinical Manifestations in a Case of A lagille Syndrome
Author(s) -
Gadkari Reshma,
Doshi Bhavana,
Nayak Chitra,
Ghildiyal Radha,
Madke Bhushan,
Ghia Deepti
Publication year - 2013
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.12132
Subject(s) - medicine , palmoplantar keratoderma , cholestasis , dyskeratosis , keratoderma , alagille syndrome , ectodermal dysplasia , hyperhidrosis , dermatology , dysplasia , dorsum , pathology , hyperkeratosis , anatomy , gastroenterology
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 A lagille 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.