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Familial benign chronic pemphigus

Orpha number ORPHA2841
Synonym(s) Benign chronic familial pemphigus of Hailey-Hailey
Hailey-Hailey disease
Prevalence Unknown
Inheritance
  • Autosomal dominant
Age of onset Adulthood
ICD-10
  • Q82.8
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT
  • 79468000

Summary

Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva). Prevalence is unknown. Skin lesions appear during adolescence or more often at the age of 30-40 years; they are relapsing and recurrent. Lesions can be complicated by heat, rubbing or superinfections. Benign chronic familial pemphigus is transmitted as a dominant trait, with incomplete penetrance. Mutations in the ATP2C1 gene (localised to 3q21-q24), encoding a calcium pump, cause the disease by impairing epidermal keratinocyte adhesion. Histopathological analysis of the lesions shows suprabasal acantholysis of epidermal cells. There is no specific treatment, but drying the affected areas is essential as well as employing measures to prevent bacterial, fungal and viral infections. Topical medical treatment can alleviate the symptoms in milder forms. Physical treatments are very effective for more severe forms: CO2 laser therapy (pulse or continuous) is often proposed as a first-line treatment. Other techniques, such as dermabrasion or excision-graft, may also be required to correct the symptoms of this dermatosis.


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