Format

Send to

Choose Destination
Br J Dermatol. 2011 Oct;165(4):917-21. doi: 10.1111/j.1365-2133.2011.10455.x. Epub 2011 Aug 9.

Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation.

Author information

1
Departments of Cardiology Pathology, Ankara University School of Medicine, Sihhiye, Ankara 06100, Turkey.

Abstract

Inherited desmosomal cardiocutaneous syndromes are characterized by the quartet of woolly hair, palmoplantar keratoderma (PPK), skin fragility and cardiac abnormalities, which are caused by mutations in genes coding for desmosomal proteins. We describe a previously unrecognized autosomal recessive syndrome in a family with arrhythmogenic right ventricular cardiomyopathy associated with alopecia and PPK (named CAPK). Genetic investigation of the family led us to find a homozygous disease-causing mutation, p.R265H, in JUP which encodes plakoglobin, a well-described member of the desmosome complex. This study expands the clinical spectrum of disorders associated with germline mutations affecting desmosomal proteins by describing a novel phenotype.

[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center