Format

Send to

Choose Destination
Pediatr Dermatol. 2015 Jan-Feb;32(1):102-8. doi: 10.1111/pde.12484. Epub 2014 Dec 16.

Early-onset heart failure, alopecia, and cutaneous abnormalities associated with a novel compound heterozygous mutation in desmoplakin.

Author information

1
College of Physicians and Surgeons, Columbia University, New York, New York.

Abstract

Mutations in the desmosomal protein desmoplakin have been associated with various conditions affecting the skin and heart. The prototype is Carvajal syndrome, characterized by cardiomyopathy, woolly hair, palmoplantar keratoderma (PPK), and skin fragility. We report the case of a 3-year-old boy presenting with severe left-sided heart failure with a preceding history of cutaneous abnormalities including congenital alopecia, PPK, nail dystrophy, and follicular hyperkeratosis on the extensor surfaces. Genetic testing revealed a novel combination of two heterozygous mutations in the DSP gene encoding desmoplakin: R1400X and R2284X. Both are predicted to be deleterious to protein function. This case adds to our understanding of the spectrum of clinical presentations of syndromes associated with desmoplakin mutations and highlights the need for cardiac examination in patients with characteristic cutaneous findings.

PMID:
25516398
DOI:
10.1111/pde.12484
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center