Progressive familial intrahepatic cholestasis with normal GGT level appearing with lichenification and enlargement of hands and feet.

Abstract

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.

• Authors: Tümay Doğanci, Gülen Akyol, Sevcan Bulaç
• Journal: The Turkish journal of pediatrics (Turk J Pediatr) 2005 Oct-Dec Vol. 47 Issue 4 Pg. 385-9 ISSN: 0041-4301 [Print] Turkey
• PMID: 16363353 (Publication Type: Case Reports, Journal Article)

Chemical References

• gamma-Glutamyltransferase

Topics

• Child, Preschool
• Cholestasis (blood, complications, diagnosis, pathology)
• Consanguinity
• Disease Progression
• Foot (pathology)
• Hand (pathology)
• Humans
• Lichenoid Eruptions (etiology)
• Male
• Pruritus (complications)
• gamma-Glutamyltransferase (blood)