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A new de novo heterozygous missense mutation in the desmoplakin gene, causing Naxos and Carvajal disease, associating oligodontia and nail fragility.

Clinical and experimental dermatology

Authors: Sokounthie Ou, Nicole Cesarato, Pierre Mauran, Marie-Paule Gellé, Holger Thiele, Regina C Betz, Manuelle Viguier, Laurence Gusdorf

A new de novo heterozygous mutation in the desmoplakin gene, causing Naxos and Carvajal disease, has been reported in a 13-year-old Caucasian girl, with expanded clinical phenotype. In addition to woolly hair, palmoplantar keratoderma and cardiomyopathy, she had oligodontia and nail fragility. These additional clinical features may help in the diagnosis of Naxos and Carvajal disease, known to be severe on the cardiac level.

© 2022 British Association of Dermatologists.

PMID: 35574671

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