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A genetic skin disorder caused by mutations in the KRT9 gene. It is characterized by hyperkeratosis in the palms and soles resulting in abnormal thickening of the skin in these areas.
Features include: Increased circulating IgE concentration, Palmoplantar hyperkeratosis, Plantar hyperkeratosis, and Localized epidermolytic hyperkeratosis and 1 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Skin | 4 | Palmoplantar hyperkeratosis, Plantar hyperkeratosis, Localized epidermolytic hyperkeratosis |
Lab test results | 1 | Increased circulating IgE concentration |
KRT9 encodes keratin 9 (623 aa). May serve an important special function either in the mature palmar and plantar skin tissue or in the morphogenetic program of the formation of these tissues. Plays a role in keratin filament assembly Highest expression in Skin Sun Exposed Lower leg (2.5 TPM) and Skin Not Sun Exposed Suprapubic (2.2 TPM).
Epidermolytic palmoplantar keratoderma, 1 is associated with mutations in the KRT9 gene on chromosome 17.
The KRT9 protein participates in Mammary stem cell produces myoepithelial/basal progenitor and Embryonic ectoderm cell produces mammary stem cell pathways.
KRT9 is classified as a druggable target with score 0.0.
Genetic testing for KRT9 is available. Testing is considered confirmatory for diagnosis.
No clinical trials have been registered for epidermolytic palmoplantar keratoderma, 1.
11 publications have been identified in PubMed for epidermolytic palmoplantar keratoderma, 1. Research spans Case Report / Case Series (45%), Basic Science / Preclinical (45%), and Gene Therapy / Novel Therapeutics (9%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 5 | 45% |
Laboratory research | 5 | 45% |
New treatment approaches | 1 | 9% |
Liu J (2026). [PMID: 41656929](https://pubmed.ncbi.nlm.nih.gov/41656929/). *The Journal of dermatology*. [Basic Science / Preclinical]
Lin C (2025). [PMID: 41601798](https://pubmed.ncbi.nlm.nih.gov/41601798/). *Frontiers in medicine*. [Case Report / Case Series]
Lin D (2025). [PMID: 40993822](https://pubmed.ncbi.nlm.nih.gov/40993822/). *Hereditas*. [Gene Therapy / Novel Therapeutics]
Iqbal F (2025). [PMID: 39786791](https://pubmed.ncbi.nlm.nih.gov/39786791/). *Endocrinology, diabetes & metabolism case reports*. [Case Report / Case Series]
Steiner SN (2025). [PMID: 41000774](https://pubmed.ncbi.nlm.nih.gov/41000774/). *bioRxiv : the preprint server for biology*. [Basic Science / Preclinical]
Zhang AL (2025). [PMID: 39839465](https://pubmed.ncbi.nlm.nih.gov/39839465/). *JAAD case reports*. [Case Report / Case Series]
Qu X (2025). [PMID: 39835811](https://pubmed.ncbi.nlm.nih.gov/39835811/). *Journal of virology*. [Basic Science / Preclinical]
Cao Y (2025). [PMID: 41173088](https://pubmed.ncbi.nlm.nih.gov/41173088/). *The Journal of investigative dermatology*. [Basic Science / Preclinical]
Koschitzki K (2024). [PMID: 38721567](https://pubmed.ncbi.nlm.nih.gov/38721567/). *Clinical case reports*. [Case Report / Case Series]
Arıcı S (2024). [PMID: 38433550](https://pubmed.ncbi.nlm.nih.gov/38433550/). *Cardiology in the young*. [Case Report / Case Series]
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 5:36 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center