title: Unusual clinical manifestations in a case of Alagille syndrome.
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.
authors.forename: Reshma
authors.initials: R
authors.lastname: Gadkari
authors.forename: Bhavana
authors.initials: B
authors.lastname: Doshi
authors.forename: Chitra
authors.initials: C
authors.lastname: Nayak
authors.forename: Radha
authors.initials: R
authors.lastname: Ghildiyal
authors.forename: Bhushan
authors.initials: B
authors.lastname: Madke
authors.forename: Deepti
authors.initials: D
authors.lastname: Ghia
mesh_terms: D016738:Alagille Syndrome / Q000175:diagnosis* / Q000188:drug therapy / Q000473:pathology; D001706:Biopsy; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004359:Drug Therapy, Combination; D006801:Humans; D007501:Iron / Q000627:therapeutic use; D008297:Male; D014580:Ursodeoxycholic Acid / Q000008:administration & dosage; D014801:Vitamin A / Q000627:therapeutic use; D014807:Vitamin D / Q000627:therapeutic use; D014810:Vitamin E / Q000627:therapeutic use
chemical_list: D014801:Vitamin A; D014807:Vitamin D; D014810:Vitamin E; D014580:Ursodeoxycholic Acid; D007501:Iron