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SLURP1-pEDD

Previously: Mal de Meleda

pEDD Gene: SLURP1 AR

Onset: Infancy

Pathway: Signalling molecules

Category Paper: pEDD Paper

SLURP1-pEDD: diffuse, macerated, transgradient palmoplantar keratoderma.

Key Clinical Clues

Macerated, white/ivory diffuse, transgradient keratoderma; periorificial involvement; superinfection; nail dystrophy.

Additional Cutaneous Features

Macerated, white/ivory diffuse, transgradient keratoderma, periorificial involvement, often bacterial/fungal superinfection, nail dystrophy

References

Fischer J, Bouadjar B, Heilig R et al. Mutations in the gene encoding SLURP-1 in Mal de Meleda. Hum Mol Genet 2001; 10:875-80.

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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