Alopecia, palmoplantar keratoderma, skin fragility and follicular hyperkeratoses due to compound heterozygous mutations in desmoplakin

Burak Tekin, Deniz Yucelten, Lu Liu, John A. McGrath

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)e17-e19
JournalAustralasian Journal of Dermatology
Volume58
Issue number1
DOIs
Publication statusPublished - 2017 Feb 1

All Science Journal Classification (ASJC) codes

  • Dermatology

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