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ichthyosis, annular epidermolytic 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ichthyosis, annular epidermolytic 1

MONDO:0100303

Overview

Any annular epidermolytic ichthiosis in which the cause of the disease is a variation in the KRT10 gene.

GeneticsAutosomal dominant · KRT10 (chr 17)

ResearchLimited published research (2 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Erythema, Orthokeratosis, Dry, scaly skin (ichthyosis), and Abnormal blistering of the skin and others; and common findings: Erythematous plaque, Scaling skin, and Flexural lichenification. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	9	Erythematous plaque, Abnormal nail morphology, Erythema

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

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).

Ichthyosis, annular epidermolytic 1 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.

Diagnosis

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

Biomarker and diagnostic research for ichthyosis, annular epidermolytic 1 has been reported in the published literature.

Prognosis

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

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for ichthyosis, annular epidermolytic 1.

2 publications have been identified in PubMed for ichthyosis, annular epidermolytic 1. Research spans Diagnostic / Biomarker (50%) and Case Report / Case Series (50%).

Recent Publications

Süßmuth K (2026). [PMID: 41892076](https://pubmed.ncbi.nlm.nih.gov/41892076/). *Dermatopathology (Basel)*. [Diagnostic / Biomarker]
Smits E (2025). [PMID: 40741111](https://pubmed.ncbi.nlm.nih.gov/40741111/). *Clin Case Rep*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 12:13 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:607602

GARD

Genetic and Rare Diseases Info Center

GARD:15417

Questions for Your Care Team

→Should I pursue genetic testing for KRT10, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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ichthyosis, annular epidermolytic 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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