Features include always present findings: Decreased body weight, Short stature, Dry, scaly skin (ichthyosis), and Scaling skin and others; and very common findings: Hypoplastic nipples. 14 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).

Congenital reticular ichthyosiform erythroderma 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.

Biomarker and diagnostic research for congenital reticular ichthyosiform erythroderma has been reported in the published literature.

Phenotype severity distribution: 6 always present features, 1 very common feature, 6 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for congenital reticular ichthyosiform erythroderma.

104 publications have been identified in PubMed for congenital reticular ichthyosiform erythroderma. Research spans Review / Meta-Analysis (32%), Epidemiology / Natural History (30%), and Clinical Trial Publication (16%).