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superficial epidermolytic ichthyosis (SEI) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

superficial epidermolytic ichthyosis

MONDO:0007813

Also known as:SEIbullous type ichthyosisichthyosis bullosa of Siemens

Overview

Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI) characterized by the presence of superficial blisters and erosions at birth.

GeneticsAutosomal dominant · KRT2 (chr 12)

ResearchLimited published research (7 articles)

Clinical Presentation

Features include: Congenital bullous ichthyosiform erythroderma.

Organ System	Phenotype Count	Example Features
Skin	1	Congenital bullous ichthyosiform erythroderma
Pregnancy and birth	1	Congenital bullous ichthyosiform erythroderma

Explore clinical features

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.

KRT2 encodes keratin 2 (639 aa). Probably contributes to terminal cornification. Associated with keratinocyte activation, proliferation and keratinization. Highest expression in Skin Sun Exposed Lower leg (7,076 TPM) and Skin Not Sun Exposed Suprapubic (2,152 TPM).

Superficial epidermolytic ichthyosis is associated with mutations in the KRT2 gene on chromosome 12.

KRT2 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for KRT2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for superficial epidermolytic ichthyosis has been reported in the published literature.

Prognosis

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

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 superficial epidermolytic ichthyosis.

7 publications have been identified in PubMed for superficial epidermolytic ichthyosis. Research spans Case Report / Case Series (57%), Diagnostic / Biomarker (14%), and Review / Meta-Analysis (14%).

Recent Publications

Bobica AC (2026). [PMID: 41244859](https://pubmed.ncbi.nlm.nih.gov/41244859/). *JAAD international*. [Diagnostic / Biomarker]
Saito N (2026). [PMID: 41589029](https://pubmed.ncbi.nlm.nih.gov/41589029/). *The Journal of dermatology*. [Case Report / Case Series]
Zaino M (2026). [PMID: 41782735](https://pubmed.ncbi.nlm.nih.gov/41782735/). *JAAD case reports*. [Case Report / Case Series]
Han JY (2025). [PMID: 40661104](https://pubmed.ncbi.nlm.nih.gov/40661104/). *JAAD case reports*. [Case Report / Case Series]
Xiang R (2025). [PMID: 40709761](https://pubmed.ncbi.nlm.nih.gov/40709761/). *Acta dermato-venereologica*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 4:30 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:146800

Orphanet

European rare disease database

Orphanet:455

GARD

Genetic and Rare Diseases Info Center

GARD:2966

Questions for Your Care Team

→Should I pursue genetic testing for KRT2, 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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superficial epidermolytic ichthyosis

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team