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Identification of Novel ATP2C1 Mutations in a Spanish Cohort of Patients With Hailey-Hailey Disease.

Actas dermo-sifiliograficas - 1 Jan 2026

Antoñanzas J, Salido-Vallejo R, España A, Patiño-García A, Aguado L

Abstract excerpt

Hailey-Hailey disease (HHD) is a rare autosomal dominant genodermatosis characterized by blisters and erosions in skin folds, significantly impairing patients' quality of life. HHD is caused by mutations in the ATP2C1 gene, which encodes the calcium transport protein SPCA1. Approximately 290 unique mutations have been identified to date; however, data remain scarce regarding mutations affecting patients in...

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Source

Identifiers

PMID: 41856431
DOI: 10.1016/j.ad.2026.104625

Genes

ATP2C1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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