Progressive familial intrahepatic cholestasis with normal GGT level appearing with lichenification and enlargement of hands and feet.
Progressive familial intrahepatic cholestasis is a serious disease of the liver, known as Byler disease, characterized by hepatocellular cholestasis. Severe pruritus and high serum bile acid concentrations are the most important diagnostic criteria of this autosomal recessive inherited disease. Here, we present a five-year-old boy with lichenification and enlargement of hands and feet as a sign of progressive familial intrahepatic cholestasis due to severe pruritus.
Doğanci
Tümay
T
Department of Pediatric Gastroenterology, Social Security Children's Hospital, Ankara, Turkey.
Akyol
Gülen
G
Bulaç
Sevcan
S
D002675:Child, Preschool; D002779:Cholestasis / Q000097:blood / Q000150:complications* / Q000175:diagnosis* / Q000473:pathology; D003241:Consanguinity; D018450:Disease Progression; D005528:Foot / Q000473:pathology*; D006225:Hand / Q000473:pathology*; D006801:Humans; D017512:Lichenoid Eruptions / Q000209:etiology*; D008297:Male; D011537:Pruritus / Q000150:complications; D005723:gamma-Glutamyltransferase / Q000097:blood
D005723:gamma-Glutamyltransferase