Familial Benign Chronic Pemphigus

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

ATP2C1, SLURP1, ATP2A2, NOTCH1, PXDNL, YY1, RPE65, SLC8A1, SP1, TPO, UVRAG, CKAP4, TP63, PMAIP1, GDE1, ORAI1, MIR19B1, PPARA, ACTB, PARP1, ERBB2, ADRA1A, AGT, CASP3, COL11A2, DNAH8, DSP, GABPA, NFE2L2, HLA-B

Drugs

[Nle4, D-Phe7]-alpha-melanocyte stimulating hormone ( SCENESSE )

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Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).

Epidemiology

Prevalence is unknown.

Clinical description

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.

Etiology

Mutations in the ATP2C1 gene (localised to 3q21-q24), encoding a calcium pump, cause the disease by impairing epidermal keratinocyte adhesion.

Diagnostic methods

Histopathological analysis of the lesions shows suprabasal acantholysis of epidermal cells.

Genetic counseling

Benign chronic familial pemphigus is transmitted as a dominant trait, with incomplete penetrance.

Management and treatment

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.