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
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
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