Hailey hailey disease

Hailey-Hailey disease (also known as benign familial pemphigus) is a rare, chronic skin condition that is characterized by recurrent blisters and erosions. The disease is named after the Hailey brothers, who first described it in 1939.

Etiology

Hailey-Hailey disease is caused by a mutation in the ATP2C1 gene, which provides instructions for producing a protein that regulates calcium levels in skin cells. This mutation leads to a disruption in the normal life cycle of skin cells, causing them to stick together and form blisters. The disease is inherited in an autosomal dominant manner, meaning that an affected person has a 50% chance of passing the disorder on to each of their children.

Symptoms

The primary symptom of Hailey-Hailey disease is the development of blisters and erosions, primarily in areas of the body that experience friction or sweating, such as the armpits, groin, neck, and under the breasts. These lesions can be painful and itchy, and may become infected. Other symptoms can include hyperpigmentation and a foul odor.

Diagnosis

Diagnosis of Hailey-Hailey disease is typically based on the characteristic clinical presentation and confirmed by a skin biopsy. Genetic testing can also be used to identify the ATP2C1 gene mutation.

Treatment

There is currently no cure for Hailey-Hailey disease, and treatment is focused on managing symptoms. This can include topical corticosteroids, antibiotics to treat infections, and laser therapy to reduce the formation of new blisters. In severe cases, surgery may be considered.

Prognosis

While Hailey-Hailey disease can significantly impact a person's quality of life, it does not affect life expectancy. With appropriate management, many people with the disease are able to lead normal lives.

See also

• Pemphigus
• Genodermatoses
• ATP2C1