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Early‐Onset Heart Failure, Alopecia, and Cutaneous Abnormalities Associated with a Novel Compound Heterozygous Mutation in Desmoplakin
Author(s) -
Antonov Nina K.,
Kingsbery Mina Y.,
Rohena Luis O.,
Lee Teresa M.,
Christiano Angela,
Garzon Maria C.,
Lauren Christine T.
Publication year - 2014
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.12484
Subject(s) - desmoplakin , palmoplantar keratoderma , medicine , hyperkeratosis , dermatology , compound heterozygosity , cardiomyopathy , mutation , pathology , heart failure , genetics , gene , biology
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.