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RSPO1-pEDD

Previously: Palmoplantar skin thickening with SCC of skin and sex reversal

pEDD Gene: RSPO1 AR

Onset: Infancy

Pathway: Signalling molecules

Category Paper: pEDD Paper

Key Clinical Clues

Scleroatrophy of fingers, absent dermatoglyphics; sex reversal; SCC.

Additional Cutaneous Features

Scleroatrophy of fingers, absent dermatoglyphics, SCC (squamous cell carcinoma)

Additional Extracutaneous Features

Sex reversal

References

Parma P, Radi O, Vidal V et al. R-spondin1 is essential in sex determination, skin differentiation and malignancy. Nat Genet 2006; 38:1304-9.

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

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