More than meets the eye: Palmoplantar keratoderma and arrhythmogenic right ventricular cardiomyopathy in a patient with loss of the DSP gene
Jessica Victoria Yao, MD, BBMed, Ingrid Winship, MBChB, MD, FRACP, FACD, FAICD
JAAD Case Reports · 2020
doi:10.1016/j.jdcr.2020.06.025 (opens in a new tab)
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Abstract
Palmoplantar keratoderma (PPK) is a keratinizing disorder that can occur as an isolated phenomenon or in association with various systemic abnormalities. A woman with PPK was found through cascade genetic testing to have a heterozygous deletion in chromosome region 6p25.1p24.3 with loss of the DSP gene. Subsequent cardiac investigations revealed arrhythmogenic right ventricular cardiomyopathy (ARVC).
Abstract licence: CC BY
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