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FAM83G-pEDD

Previously: PPK, leuconychia with exuberant scalp hair

pEDD Gene: FAM83G AR

Onset: Infancy

Pathway: Signalling molecules

Category Paper: pEDD Paper

Key Clinical Clues

Verrucous PPK, leuconychia with exuberant scalp hair.

Additional Cutaneous Features

Verrucous PPK, leuconychia, rapidly growing curly hair

References

Maruthappu T, McGinty LA, Blaydon DC et al. Recessive mutation in FAM83G associated with palmoplantar keratoderma and exuberant scalp hair. J Invest Dermatol 2018; 138:984-7. | van Gisbergen MW, Rossel SVJ, Theunissen TEJ et al. Expanding phenotypic insights of palmoplantar keratodermas based on novel FAM83G variants. Br J Dermatol 2025; 192:544-6.

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