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KLK11-nEDD

Previously: Autosomal dominant cornification disorder

nEDD Gene: KLK11 AD

Onset: Birth

Pathway: Enzymes

Category Paper: nEDD Paper

KLK11-nEDD: diffuse erythema with scaling on the lower leg.

Key Clinical Clues

Thickened scaly plaques and patchy scaling or diffuse scaling, PPK.

Additional Cutaneous Features

Patchy scaling on trunk, diffuse scaling on extremities.

References

Gong Z, Dai S, Jiang X et al. Variants in KLK11, affecting signal peptide cleavage of kallikrein-related peptidase 11, cause an autosomal-dominant cornification disorder. Br J Dermatol 2023; 188:100-11. || Takeichi T, Ito Y, Lee JYW et al. KLK11 ichthyosis: large truncal hyperkeratotic pigmented plaques underscore a distinct autosomal dominant disorder of cornification. Br J Dermatol 2023; 189:134-6.

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