KANK2-pEDD

Previously: PPK and woolly hair

pEDD Gene: KANK2 AR

Onset: Early childhood

Pathway: Signalling molecules

Category Paper: pEDD Paper

Key Clinical Clues

Striate palmar keratoderma, focal on feet; pseudoainhum of fifth toe, sparse, woolly hair, follicular keratoses; leuconychia of fingernails.

Additional Cutaneous Features

Striate palmar keratoderma, focal on feet, pseudoainhum of fifth toe, sparse, woolly hair, follicular keratoses, leuconychia of fingernails

References

Ramot Y, Molho-Pessach V, Meir T et al. Mutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hair. J Med Genet 2014; 51:388-94.

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