CTSZ-pEDD
pEDD
Gene: CTSZ
AD
Onset:
Late childhood to adolescence
Pathway:
Enzymes and their inhibitors
Category Paper:
pEDD Paper
Key Clinical Clues
Focal plantar keratoderma with minimal palmar involvement, aquagenic.
Additional Cutaneous Features
Aquagenic
References
Malovitski K, Sarig O, Feller Y et al. Defective cathepsin Z affects EGFR expression and causes autosomal dominant palmoplantar keratoderma. Br J Dermatol 2023; 189:302-11.
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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