Hailey-Hailey disease

Hailey-Hailey disease, also called familial benign chronic pemphigus, is a genetic skin disorder that produces recurring blisters, most often in skin folds such as the armpits, groin, neck, buttocks and under the breasts. It is caused by mutations in the ATP2C1 gene; a single mutated copy leaves too little of the hSPCA1 protein, which disrupts the desmosome connections that hold skin cells together, a mechanism called haploinsufficiency. Onset typically occurs in the late teens or in a person's thirties or forties, with symptoms including acantholysis, redness and thickened skin alongside the blistering. The disease was first described in 1939 by brothers Hugh Edward Hailey and William Howard Hailey. No cure exists; management includes topical corticosteroids, antibiotics, antifungals, dapsone, methotrexate, thalidomide, etretinate, cyclosporine and alefacept injections, with low-dose naltrexone showing promise in many cases.