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PERP-pEDD

Previously: Olmsted syndrome 2 (OLS2)

pEDD Gene: PERP AD, AR

Onset: Infancy

Pathway: Structural Proteins

Category Paper: pEDD Paper

Key Clinical Clues

Woolly (yellowish) hair, periorificial plaques, cheilitis, dystrophic nails, transgradiens keratoderma.

Additional Cutaneous Features

Woolly (often yellowish) hair, periorificial plaques, cheilitis, dystrophic nails, transgradiens keratoderma

References

Duchatelet S, Boyden LM, Ishida-Yamamoto A et al. Mutations in PERP Cause dominant and recessive keratoderma. J Invest Dermatol 2019; 139:380-90.

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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This is a reference resource for clinicians and researchers. It is not medical advice or a diagnostic tool.

The database is still being verified and entries may be incomplete. Do not rely on it without independent professional judgement.

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