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SASH1-pEDD

Previously: Cancer, alopecia, pigment dyscrasia, onychodystrophy and keratoderma

pEDD Gene: SASH1 AR

Onset: Infancy

Pathway: Signalling molecules

Category Paper: pEDD Paper

Key Clinical Clues

Macular hypo- and hyperpigmentation, reticulate on limbs, dystrophic nails and PPK.

Additional Cutaneous Features

Macular hypo- and hyperpigmentation, reticulate on limbs, dystrophic nails

References

Courcet JB, Elalaoui SC, Duplomb L et al. Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma. Eur J Hum Genet 2015; 23: 957-62.

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