superficial epidermolytic ichthyosis
Findings
No curated finding names superficial epidermolytic ichthyosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI) characterized by the presence of superficial blisters and erosions at birth.
Definition from the Mondo Disease Ontology (MONDO:0007813), read 2026-09-29. CC BY 4.0.
Features
7 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal blistering of the skinHPOHP:0008066
- Very frequent (80% to 99% of cases)
- AcantholysisHPOHP:0100792
- Very frequent (80% to 99% of cases)
- EdemaHPOHP:0000969
- Very frequent (80% to 99% of cases)
- IchthyosisHPOHP:0008064
- Very frequent (80% to 99% of cases)
- Palmoplantar keratodermaHPOHP:0000982
- Very frequent (80% to 99% of cases)
- Thin skinHPOHP:0000963
- Very frequent (80% to 99% of cases)
- ErythemaHPOHP:0010783
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- KRT2HGNC:6439
- Definitive · G2P · Autosomal dominant · 2018
- Strong · Ambry Genetics · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: superficial epidermolytic ichthyosis
- Also called
- ichthyosis bullosa of SiemensSEI