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CTSC-pEDD-arachnodactyly

Previously: Haim-Munk syndrome

pEDD Gene: CTSC AR

Onset: Infancy

Pathway: Enzymes and their inhibitors

Category Paper: pEDD Paper

Key Clinical Clues

Similar to CTSC-pEDD, with arachnodactyly.

Additional Cutaneous Features

Erythematous PPK, extensor limb plaques

Additional Extracutaneous Features

Loss of dentition (age 4-5) due to periodontitis, pyogenic abscesses, arachnodactyly

References

Hart TC, Hart PS, Michalec MD et al. Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C. J Med Genet 2000; 37:88-94.

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