Woolly hair, palmoplantar keratoderma and arrhythmogenic dilated cardiomyopathy in a 7-year-old Turkish girl: Carvajal syndrome.
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.
Turkay
Sadi
S
Department of Pediatrics, Faculty of Medicine, Fatih University, Ankara, Turkey.
Odemis
Ender
E
Karadag
Ahmet
A
D002311:Cardiomyopathy, Dilated / Q000473:pathology* / Q000503:physiopathology; D002648:Child; D004452:Echocardiography; D017809:Fatal Outcome; D005260:Female; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000473:pathology* / Q000503:physiopathology; D012008:Recurrence; D013577:Syndrome; D017180:Tachycardia, Ventricular / Q000473:pathology / Q000503:physiopathology