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ATP2C1-nEDD

Previously: Hailey-Hailey disease

nEDD Gene: ATP2C1 AD

Onset: Late onset

Pathway: Channels

Category Paper: nEDD Paper

ATP2C1-nEDD: Erythema and erosions in the inguinal skin folds.

Key Clinical Clues

Erythema, vesicles, erosions in skin folds; flares with infections.

Additional Cutaneous Features

Favours skin folds but also present on other sites; susceptible to flares due to bacterial, viral and mycotic infections. Histopathology: Acantholysis and dyskeratosis.

References

Hu Z, Bonifas JM, Beech J et al. Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease. Nat Genet 2000; 24:61-5. || Sudbrak R, Brown J, Dobson-Stone C et al. Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump. Hum Mol Genet 2000; 9:1131-40.

Summarised from published literature for general information. This is not medical advice, and entries are still being verified. Read the full disclaimer