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ATP2A2-nEDD

Previously: Darier-White disease, keratosis follicularis

nEDD Gene: ATP2A2 AD

Onset: Typically onset childhood or later

Pathway: Channels

Category Paper: nEDD Paper

ATP2A2-nEDD: follicular keratotic papules coalescing into plaques on the neck.

Key Clinical Clues

Follicular keratotic papules coalescing into plaques (neck, chest, folds), palmar pitting, oral papules, nail changes.

Additional Cutaneous Features

Mainly localized on folds or seborrhoeic areas, palmar pitting, oral papules, papules on the dorsal hands, nail changes (red/white linear stripes, distal detachment, subungual hyperkeratosis), vegetations of inguinal folds, recurrent bacterial or viral infections. Histopathology: Acantholysis and dyskeratosis.

References

Sakuntabhai A, Ruiz-Perez V, Carter S et al. Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. Nat Genet 1999; 21:271-7.

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