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AAGAB-pEDD

Previously: Punctate PPK IA (PPPK IA)

pEDD Gene: AAGAB AD

Onset: Childhood/adult

Pathway: Signalling molecules

Category Paper: pEDD Paper

AAGAB-pEDD: punctate papules coalescing into focal plantar plaques.

Key Clinical Clues

Punctate papules on palms and soles; association with cancer in some families.

Additional Cutaneous Features

Punctate papules on palms and soles

Additional Extracutaneous Features

Association with cancer in some families

References

Pohler E, Mamai O, Hirst J et al. Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma. Nat Genet 2012; 44:1272-6. | Elhaji Y, Hedlin C, Nath A et al. AAGAB mutations in 18 Canadian families with punctate palmoplantar keratoderma and a possible link to cancer. J Cutan Med Surg 2020; 24:28-32.

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