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PKP1-pEDD

Previously: Ectodermal dysplasia/skin fragility syndrome

pEDD Gene: PKP1 AR

Onset: Infancy

Pathway: Structural Proteins

Category Paper: pEDD Paper

Key Clinical Clues

Skin fragility, perioral fissuring, scarring alopecia, nail dystrophy, painful PPK.

Additional Cutaneous Features

Skin fragility, perioral fissuring, scarring alopecia, nail dystrophy, painful PPK

References

McGrath JA, McMillan JR, Shemanko CS et al. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. Nat Genet 1997; 17:240-4.

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