Alagille syndrome

A rare syndrome variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys.

Palmar pits



合計: 1

                      


(表示件数)
PMID (PMCID)
25333075
MALE
Unusual clinical manifestations in a case of Alagille syndrome.
Gadkari R, Doshi B, Nayak C, Ghildiyal R, Madke B, Ghia D.
Pediatr Dermatol. 2014;31(5):599-602.
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.