Woolly hair, palmoplantar keratoderma and arrhythmogenic dilated cardiomyopathy in a 7-year-old Turkish girl: Carvajal syndrome

Authors: Turkay, Sadi; Odemis, Ender; Karadag, Ahmet

Source: Annals of Tropical Paediatrics: International Child Health, Volume 26, Number 1, March 2006 , pp. 73-77(5)

Buy & download fulltext article:

Price: $48.00 plus tax (Refund Policy)

Abstract:

Carvajal syndrome (OMIM 605676) is a familial syndrome consisting of woolly hair, palmoplantar keratoderma and heart disease. It leads to dilated cardiomyopathy that affects predominantly the left ventricle. It is caused by a recessive mutation in desmoplakin, an intracellular protein that links desmosomal adhesion molecules to intermediate filaments of the cytoskeleton. Very few patients with this syndrome have been reported, and all have been from Equador or India. We report a 7-year-old Turkish girl with Carvajal syndrome.

Document Type: Case Report

DOI: http://dx.doi.org/10.1179/146532806X90646

Affiliations: Department of Pediatrics, Faculty of Medicine, Fatih University, Ankara, Turkey

Publication date: 2006-03-01

More about this publication?