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Article

Novel and recurrent variants of ATP2C1 identified in patients with Hailey-Hailey disease.

Journal of applied genetics - 1 May 2020

Sawicka J, Kutkowska-Kaźmierczak A, Woźniak K, Tysarowski A, Osipowicz K, Poznański J, Rygiel A M, Braun-Walicka N, Niepokój K, Bal J, Kowalewski C, Wertheim-Tysarowska K

Abstract excerpt

Hailey-Hailey disease (HHD) is a rare, late-onset autosomal dominant genodermatosis characterized by blisters, vesicular lesions, crusted erosions, and erythematous scaly plaques predominantly in intertriginous regions. HHD is caused by ATP2C1 mutations. About 180 distinct mutations have been identified so far; however, data of only few cases from Central Europe are available. The aim was to analyze the ATP2C1...

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Identifiers

PMID: 31983024
DOI: 10.1007/s13353-020-00538-8
PMCID: PMC7148260

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