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AQP5-pEDD

Previously: PPK, Bothnian type

pEDD Gene: AQP5 AD

Onset: Infancy

Pathway: Channels

Category Paper: pEDD Paper

AQP5-pEDD: diffuse, plantar keratoderma with tinea pedis.

Key Clinical Clues

Aquagenic, diffuse PPK, often tinea superinfection.

Additional Cutaneous Features

Aquagenic, diffuse PPK, often tinea superinfection

References

Blaydon DC, Lind LK, Plagnol V et al. Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma. Am J Hum Genet 2013; 93:330-5.

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