Clinical and experimental dermatologyHumansMiddle AgedMaleAdolescentFemale
DSP-palmoplantar epidermal differentiation disorder: a distinct phenotype and red flag for cardiomyopathy.
Eveliina Brandt, Krista Heliö, Liisa Harjama, Sini Weckström, Outi Elomaa, Kaisa Kettunen, Katriina Lappalainen, Nelli Sjöblom, Miia Holmström, Tiina Ojala, Juha Kere, Tiina Heliö, Katariina Hannula-Jouppi
Published: 202610.1093/ced/llaf443
Abstract
BACKGROUND: Pathogenic heterozygous desmoplakin (DSP) variants cause arrhythmogenic cardiomyopathy, predisposing to sudden cardiac death, and occasionally are found in dermatology patients with palmoplantar epidermal differentiation disorders (pEDDs)…
Preview only. Read the full abstract at the source