Hailey-Hailey disease

Hailey-Hailey disease, also known as familial benign chronic pemphigus or benign familial pemphigus, is a rare genetic skin disorder caused by mutations in the ATP2C1 gene, which encodes a calcium pump essential for proper cell-to-cell adhesion in the epidermis. The defective calcium signaling leads to impaired formation of desmosomes, the structures that hold skin cells (keratinocytes) together, resulting in acantholysis — the loss of cohesion between skin cells. The disease primarily affects the skin, with recurrent episodes of blistering, erosions, and maceration occurring predominantly in intertriginous areas (skin folds) such as the groin, axillae (armpits), neck, and under the breasts. Lesions often present as painful, erythematous, crusted, and sometimes malodorous plaques that can significantly impair quality of life. Flare-ups are commonly triggered by friction, heat, sweating, secondary bacterial or fungal infections, and ultraviolet light exposure. Symptoms typically first appear in the second to fourth decade of life, though onset can vary. Longitudinal white bands on the fingernails (longitudinal leukonychia) may also be observed. There is currently no cure for Hailey-Hailey disease. Treatment is primarily aimed at managing symptoms and preventing flares. First-line approaches include topical corticosteroids, topical antibiotics, and antifungal agents to control secondary infections. For more severe or refractory cases, systemic treatments such as oral antibiotics, dapsone, or retinoids may be used. Procedural interventions including carbon dioxide laser ablation, botulinum toxin injections (to reduce sweating), photodynamic therapy, and surgical excision of affected areas have shown benefit in selected patients. General measures such as wearing loose-fitting clothing, minimizing friction, and keeping skin folds dry are important adjunctive strategies.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Common questions about Hailey-Hailey disease