Hailey-Hailey disease

Hailey-Hailey disease is inherited in an autosomal dominant manner.^[2] This means that having only one mutated copy of the disease-causing gene in each cell is enough to cause features of the disease. Some people with Hailey-Hailey disease inherit the disease from a parent with the disease. Other cases are due to a new mutation in the gene and occur in people with no family history of the disease. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated copy of the gene.

The diagnosis of Hailey-Hailey disease usually is made based on symptoms and family history. As it can be mistaken for other blistering skin conditions, a skin biopsy might be needed. Genetic testing is available to confirm the diagnosis, but is not required.^[1] ATP2C1 is the only gene known to be associated with Hailey-Hailey disease.^[5] Genetic testing for at-risk relatives and prenatal testing are also possible if the disease-causing mutation in the family is known.

There is no specific treatment for Hailey-Hailey disease and management generally focuses on the specific symptoms and severity in each person.

People with Hailey-Hailey disease are encouraged to avoid "triggers" such as sunburn, sweating, and friction, and to keep the affected areas dry. Sunscreen, loose clothing, moisturizing creams, and avoiding excessive heat may help prevent outbreaks.^[3] Trying to prevent bacterial, viral, and fungal infections in the affected areas is also important, and drugs used to treat or prevent these infections are commonly used.^[3][6]

Topical medications (such as mild corticosteroid creams and topical antibiotics) may improve symptoms in milder forms.^[3][6] Cool compresses and dressings may also help.^[3] More severe cases may require systemic antibiotics (especially erythromycin and tetracycline) and/or stronger corticosteroid creams.^[3] Topical tacrolimus ointment can be used to control the disease, even without the use of topical corticosteroids.^[4]

When the disease does not improve with these treatments and it is widespread, additional treatment options may include:^[4][7]

• Corticosteroid injections,
• Laser ablation therapy (such as CO2 ablation laser)
• Radiofrequency (RF) surgery
• Photodynamic therapy (PDT)
• Electron beam radiotherapy
• Botulinum toxin type A (BTX-A)
• Dermabrasion
• Topical cadexomer iodine powder
• Oral dapsone
• Oral methothrexate
• Oral retinoids (isotretinoin or acitretin)
• Injections of afamelanotide
• Oral glycopyrrolate
• Injections of alefacept

Botulinum toxin, CO₂ ablation laser, and dermabrasion are the most studied and have shown to be effective treatments. Some reports show that low-dose botulinum toxin type A injections should be given first in hard-to-treat cases because it is well-tolerated, effective, and has few or mild negative side effects.^[7]