Disease Directory Hailey-Hailey Disease
Dermatological

Hailey-Hailey Disease

Also known as: benign familial pemphigus, Gougerot-Hailey-Hailey, ATP2C1 mutation

Prevalence

1 in 50,000

Onset

Early adulthood (typically 2nd–3rd decade)

Type

Autosomal dominant

Gene

ATP2C1

About Hailey-Hailey Disease

Hailey-Hailey disease is an autosomal dominant acantholytic disorder caused by loss-of-function mutations in ATP2C1, encoding the secretory pathway calcium/manganese ATPase SPCA1. Defective calcium signalling within keratinocytes impairs cell-cell adhesion, leading to acantholysis — the separation of epidermal cells — particularly in friction-prone, intertriginous areas. The resulting erosions, maceration, and fissuring have a relapsing-remitting course that is significantly worsened by heat, sweating, and secondary bacterial or candidal infection.

Common Clinical Features

Painful, erythematous erosions and fissures in intertriginous areas including the neck, axillae, groin, and submammary folds Recurrent blistering that ruptures rapidly to form moist, macerated plaques Characteristic "wet gravel" or cobblestone surface texture of established plaques Secondary bacterial superinfection (Staphylococcus aureus, Pseudomonas) causing malodour and exacerbating inflammation Secondary candidal infection compounding skin breakdown in warm, moist sites Longitudinal white bands of leukonychia on fingernails Significant psychosocial burden and impaired quality of life due to chronic, malodorous, visible skin lesions

Clinical Trial Eligibility Tips

What to know before applying to Hailey-Hailey Disease trials.

Trials targeting ATP2C1/SPCA1 pathway or keratinocyte calcium signalling require genetic confirmation; obtain sequencing results documenting the specific ATP2C1 pathogenic variant.

Exclusion criteria frequently include active secondary infections — ensure bacterial and fungal cultures are negative and superinfection is treated before the screening visit.

Concomitant use of topical or systemic antibiotics and antifungals is common in this population; document all current medications as they may affect eligibility or require washout.

Patient Resources

Patient Organization

American Academy of Dermatology (patient resources)

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Orphanet

European reference resource for rare diseases (ORPHA:407)

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NORD

National Organization for Rare Disorders

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Find recruiting Hailey-Hailey Disease trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Hailey-Hailey Disease. Updated daily.

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