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A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis.
Features include: Nonepidermolytic palmoplantar hyperkeratosis.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Skin | 1 | Nonepidermolytic palmoplantar hyperkeratosis |
KRT1 encodes keratin 1 (644 aa). May regulate the activity of kinases such as PKC and SRC via binding to integrin beta-1 (ITB1) and the receptor of activated protein C kinase 1 (RACK1). Highest expression in Skin Not Sun Exposed Suprapubic (15,626 TPM) and Skin Sun Exposed Lower leg (14,326 TPM).
Diffuse nonepidermolytic palmoplantar keratoderma is associated with mutations in the KRT1 gene on chromosome 12.
KRT1 is classified as a druggable target (Kinase category) with score 0.0.
Genetic testing for KRT1 is available. Testing is considered confirmatory for diagnosis.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for diffuse nonepidermolytic palmoplantar keratoderma.
1 publication has been identified in PubMed for diffuse nonepidermolytic palmoplantar keratoderma. Research spans Other (100%).
Del Caño LR (2024). [PMID: 38527693](https://pubmed.ncbi.nlm.nih.gov/38527693/). *J Invest Dermatol*. [Other]
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 8:06 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center