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ichthyosis, annular epidermolytic, 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ichthyosis, annular epidermolytic, 2

MONDO:0859574

Overview

GeneticsAutosomal dominant · KRT1 (chr 12)

OnsetCONGENITAL

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: Dry, scaly skin (ichthyosis), Abnormal blistering of the skin, Scaling skin, and Erythema and others.

Organ System	Phenotype Count	Example Features
Skin	7	Dry, scaly skin (ichthyosis), Abnormal blistering of the skin, Scaling skin

Age of onset: at birth.

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.

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).

Ichthyosis, annular epidermolytic, 2 is associated with mutations in the KRT1 gene on chromosome 12.

KRT1 is classified as a druggable target (Kinase category) with score 0.0.

Diagnosis

Genetic testing for KRT1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for ichthyosis, annular epidermolytic, 2 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 8 always present 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, 2.

2 publications have been identified in PubMed for ichthyosis, annular epidermolytic, 2. 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 19, 2026, 11:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620148

Questions for Your Care Team

→Should I pursue genetic testing for KRT1, 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, 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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