Loss of function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype.

CONCLUSIONS: This study identifies a highly recognizable cutaneous phenotype associated with dominant, loss of function DSPI/II mutations underlying AC. Increased awareness of this phenotype amongst healthcare workers could facilitate a timely diagnosis of AC in the absence of overt cardiac features. This article is protected by copyright. All rights reserved. PMID: 30382575 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/30382575?dopt=Abstract

Source: The British Journal of Dermatology - November 1, 2018 Category: Dermatology Authors: Maruthappu T, Posafalvi A, Castelletti S, Delaney PJ, Syrris P, O'Toole EA, Green KJ, Elliott PM, Lambiase PD, Tinker A, McKenna WJ, Kelsell DP Tags: Br J Dermatol Source Type: research