Features include always present findings: Hypergranulosis, Generalized hyperkeratosis, Epidermal acanthosis, and Orthokeratosis and others; and common findings: Cobblestone-like hyperkeratosis, Abnormal blistering of the skin, and Congenital nonbullous ichthyosiform erythroderma. 11 total HPO annotations.

KRT10 encodes keratin 10 (584 aa). Plays a role in the establishment of the epidermal barrier on plantar skin. Involved in the maintenance of cell layer development and keratin filament bundles in suprabasal cells of the epithelium Highest expression in Skin Sun Exposed Lower leg (24,040 TPM) and Skin Not Sun Exposed Suprapubic (20,397 TPM).

Epidermolytic hyperkeratosis 2B, autosomal recessive is associated with mutations in the KRT10 gene on chromosome 17.

The KRT10 protein participates in Keratinocyte of spinosum layer differentiates into keratinocyte of granulosum layer in interfollicular epidermis, Transit-amplifying cell of basal layer differentiates into keratinocyte of spinosum layer in interfollicular epidermis, and Keratinocyte of granulosum layer differentiates into corneocyte of corneum layer in interfollicular epidermis pathways.

KRT10 is classified as a druggable target (Cell Surface category) with score 11.6.

Genetic testing for KRT10 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 6 always present features, 3 common features.

No clinical trials have been registered for epidermolytic hyperkeratosis 2B, autosomal recessive.

2 publications have been identified in PubMed for epidermolytic hyperkeratosis 2B, autosomal recessive. Research spans Case Report / Case Series (100%).

Recent Publications

• Khadamy J (2025). [PMID: 40182335](https://pubmed.ncbi.nlm.nih.gov/40182335/). *Cureus*. [Case Report / Case Series]

• van der Velden JJAJ (2024). [PMID: 39072839](https://pubmed.ncbi.nlm.nih.gov/39072839/). *The Journal of dermatology*. [Case Report / Case Series]