LORICRIN-pEDD

Previously: Loricrin keratoderma/Vohwinkel syndrome

pEDD Gene: LORICRIN AD

Onset: Childhood

Pathway: Structural Proteins

Category Paper: pEDD Paper

LORICRIN-pEDD: diffuse palmar keratoderma with honeycombing, pseudoainhum of the fingers and autoamputation of the third finger.

Key Clinical Clues

Honeycomb keratoderma, pseudoainhum, starfish keratoses; worse on palms; history of collodion baby.

Additional Cutaneous Features

Keratoderma often worse on palms, history of baby with collodion membrane, fine, generalized scaling that generally improves with age

References

Maestrini E, Monaco AP, McGrath JA et al. A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome. Nat Genet 1996; 13:70-7.

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