Hailey-Hailey Disease (Familial Benign Pemphigus)
Hailey-Hailey disease is a rare autosomal dominant genetic disease due to mutations in the ATP2C1 gene. The defective gene induces the production of altered desmosomal components in the Golgi apparatus. The clinical diagnosis of Hailey-Hailey disease is based on the recurrent erythematous plaques with vesicles and fissures that occurred symmetrically in flexural areas. The lesions can become hypertrophic and malodorous. The histopathological elements are characteristic: acantholytic vesicles and a “dilapidated brick wall” structure of the epidermis. Hailey-Hailey disease has no specific treatment, and the patients have a poor quality of life. Local and systemic treatment includes antibiotics, antifungals and corticosteroids. Other treatments include: botulinum toxin injections, retinoids and laser CO2 ablation.
KeywordsHailey-Hailey disease Blister ATP2C1 gene Acantholysis
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