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Hailey-Hailey disease

Hailey-Hailey disease

OMIM number: 604384

Comments closing date: 26/03/2020

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Hailey-Hailey disease (HHD; 169600) is an autosomal dominant disorder characterized by persistent blisters and erosions of the skin.
ATP2C1 is a Golgi-localized ATPase that mediates Golgi uptake of cytosolic Ca(2+) and Mg (2+) and has a role in regulating Ca(2+) and Mn (2+) cellular content. By family linkage studies, the HHD region was localized to 3q21-q24. The mechanism by which mutant ATPC1 causes acantholysis is unknown, but it may be through
abnormally elevated cytoplasmic calcium or abnormally low Golgi Ca(2+) levels. Elevated cytoplasmic calcium might act by altering posttranslational modification of proteins or by inducing changes in gene expression. Hailey-Hailey disease is a rare blistering dermatosis first described in 1939 by the brothers Howard and Hugh Hailey. Its incidence is estimated at 1/50,000. The inheritance is autosomal dominant with complete penetrance, but a variable
expressivity in affected family members. Clinically, Hailey-Hailey disease presents between the third and fourth decade as flaccid vesicles and blisters on erythematous skin, giving rise to erosions,fissures, and vegetations. Maceration and superinfections are frequent. The lesions are typically distributed symmetrically within intertriginous regions such as the retroauricular folds, lateral aspects of the neck, axillae, umbilicus, inguinal, and perianal regions. The disease is characterized by a chronic relapsing course with spontaneous remissions and multiple recurrences. Severe disease can be very frustrating and have a major psychological and social impact. Given the dearth of evidence-based guidelines and large clinical trials, the assessment of the efficacy and safety of treatments is difficult. Treatments include topical and systemic agents, and procedural therapy such as lasers and surgery.

Review date: 26 February 2022