Alagille syndrome with prominent skin manifestations.
Alagille syndrome, a rare genetic disorder with autosomal dominant transmission, manifests 5 major features: paucity of interlobular bile ducts, characteristic facies, posterior embryotoxon, vertebral defects and peripheral pulmonic stenosis. We report a 6-year-old male child who presented with a history of progressive jaundice since infancy, generalized pruritus and widespread cutaneous xanthomata. He was also found to have obstructive jaundice, pulmonary stenosis with ventricular septal defect and paucity of bile ducts in liver biopsy. Histopathology confirmed skin lesions as xanthomata. The child was diagnosed as a case of Alagille syndrome. This particular syndrome with prominent cutaneous manifestations has been rarely reported in the Indian literature.
Sengupta
Sujata
S
Department of Dermatology, RKM Seva Pratisthan and Vivekananda Institute of Medical Sciences, Kolkata, India. senguptasujata@yahoo.co.in
Das
Jayanta Kumar
JK
Gangopadhyay
Asok
A
D016738:Alagille Syndrome / Q000097:blood / Q000175:diagnosis*; D002648:Child; D006801:Humans; D008297:Male; D012873:Skin Diseases, Genetic / Q000097:blood / Q000175:diagnosis*