Features include always present findings: Parakeratosis, Erythema, Congenital ichthyosiform erythroderma, and Erythroderma and others; and sometimes findings: Nail pits and Leukonychia. 13 total HPO annotations.

KLK11 encodes kallikrein related peptidase 11 (282 aa). Possible multifunctional protease. Efficiently cleaves 'bz-Phe-Arg-4-methylcoumaryl-7-amide', a kallikrein substrate, and weakly cleaves other substrates for kallikrein and trypsin. Highest expression in Esophagus Mucosa (247.2 TPM) and Skin Sun Exposed Lower leg (232.3 TPM).

Ichthyosis with erythrokeratoderma is associated with mutations in the KLK11 gene on chromosome 19.

KLK11 is classified as a druggable target (Druggable Genome and Protease categories) with score 0.0.

Genetic testing for KLK11 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 6 always present features.

No clinical trials have been registered for ichthyosis with erythrokeratoderma.

6 publications have been identified in PubMed for ichthyosis with erythrokeratoderma. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (17%), and Basic Science / Preclinical (17%).

Recent Publications

• Jiang X (2026). [PMID: 41530952](https://pubmed.ncbi.nlm.nih.gov/41530952/). *The British journal of dermatology*. [Case Report / Case Series]

• Bourdil L (2026). [PMID: 42433619](https://pubmed.ncbi.nlm.nih.gov/42433619/). *Case Rep Obstet Gynecol*. [Case Report / Case Series]

• Oliveira BA (2025). [PMID: 41305004](https://pubmed.ncbi.nlm.nih.gov/41305004/). *Pharmaceuticals (Basel, Switzerland)*. [Review / Meta-Analysis]

• Jiang X (2025). [PMID: 40758889](https://pubmed.ncbi.nlm.nih.gov/40758889/). *Proceedings of the National Academy of Sciences of the United States of America*. [Basic Science / Preclinical]

• Jiang X (2025). [PMID: 39913669](https://pubmed.ncbi.nlm.nih.gov/39913669/). *The British journal of dermatology*. [Gene Therapy / Novel Therapeutics]