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CTSC-pEDD

Previously: Papillon-Lefèvre syndrome

pEDD Gene: CTSC AR

Onset: Infancy

Pathway: Enzymes and their inhibitors

Category Paper: pEDD Paper

CTSC-pEDD: diffuse, erythematous keratoderma with gingival erythema.

Key Clinical Clues

Erythematous PPK, extensor limb plaques; loss of dentition (age 4-5) due to periodontitis; pyogenic abscesses.

Additional Cutaneous Features

Erythematous PPK, sometimes associated with circumscribed plaques on the extensor limbs

Additional Extracutaneous Features

Loss of dentition around age 4-5 years due to severe periodontitis, predisposition to pyogenic abscesses, calcification of the dura and choroid plexus

References

Toomes C, James J, Wood AJ et al. Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. Nat Genet 1999; 23:421-4.

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