NORD gratefully acknowledges Theodora Mauro, MD, Professor in Residence and Vice-Chair, Dermatology Department, University of California, San Francisco and Dermatology Service Chief, San Francisco Veterans Hospital, for assistance in the preparation of this report.
Hailey-Hailey disease is a rare genetic disorder that is characterized by blisters and erosions most often affecting the neck, armpits, skin folds and genitals. The lesions may come and go and usually heal without scarring. Sunlight, heat, sweating and friction often aggravate the disorder. The symptoms of Hailey-Hailey disease occur because of the failure of skin cells to stick together resulting in the breakdown of affected skin layers. Hailey-Hailey disease occurs due to a mutation in a specific gene that creates a protein that is essential for the proper health of skin. The disorder becomes apparent after puberty, usually by the third or fourth decade, but symptoms can develop at any age.
Hailey-Hailey disease is also known as familial benign pemphigus, which has created significant confusion in the medical literature. Pemphigus is a general term for a group of rare autoimmune blistering skin disorders. The symptoms and skin damage of pemphigus and Hailey-Hailey disease are similar. However, pemphigus is an autoimmune disorder, a disorder that occurs when the body’s own immune system mistakenly attacks healthy tissue. Hailey-Hailey disease is not an autoimmune disorder and there are no autoantibodies. Hailey-Hailey disease is a distinct genetic disorder caused by a gene mutation.