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Alopecia, palmoplantar keratoderma, skin fragility and follicular hyperkeratoses due to compound heterozygous mutations in desmoplakin
Author(s) -
Tekin Burak,
Yucelten Deniz,
Liu Lu,
McGrath John A
Publication year - 2017
Publication title -
australasian journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.67
H-Index - 53
eISSN - 1440-0960
pISSN - 0004-8380
DOI - 10.1111/ajd.12385
Subject(s) - palmoplantar keratoderma , medicine , dermatology , desmoplakin , hyperkeratosis , compound heterozygosity , mutation , pathology , genetics , biology , gene , cell
Inherited mutations in desmosome genes can present with a spectrum of skin, hair and cardiac abnormalities. Here we describe a 4‐year‐old Turkish boy with a cardio‐cutaneous syndrome resulting from compound heterozygous nonsense mutations in desmoplakin. Early recognition of such cases by clinical awareness of the dermatological features and molecular diagnostics can improve patient management through early cardiac support, although the risk of cardiomyopathy and arrhythmias poses a major health concern.