epidermolysis bullosa simplex 1B, generalized intermediate
Findings
No curated finding names epidermolysis bullosa simplex 1B, generalized intermediate yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kobner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction.
Definition from the Mondo Disease Ontology (MONDO:0007554), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
19 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
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Suprabasal cleavageHPOHP:0034194
- 1 of 1 reported patient
- HyperkeratosisHPOHP:0000962
- Very frequent (80% to 99% of cases)
- Lamina lucida cleavageHPOHP:0003341
- Very frequent (80% to 99% of cases)
- Skin fragility with non-scarring blisteringHPOHP:0007585
- Very frequent (80% to 99% of cases)
Genes
2 genes
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.
- KRT14HGNC:6416
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Supportive · Orphanet · Autosomal dominant · 2021
- KRT5HGNC:6442
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
9 names
Resolves to: epidermolysis bullosa simplex 1B, generalized intermediate
- Also called
- EBS, generalised intermediateEBS, generalized intermediateepidermolysis bullosa simplex, Kobner typeepidermolysis bullosa simplex, Köbner typeepidermolysis bullosa simplex, Koebner typegeneralised EBS, non-Dowling-Meara typegeneralised epidermolysis bullosa simplex, non-Dowling-Meara typegeneralized EBS, non-Dowling-Meara typegeneralized epidermolysis bullosa simplex, non-Dowling-Meara type