epidermolysis bullosa simplex 6, generalized, with scarring and hair loss
MONDO:0015006Mondo
Findings
No curated finding names epidermolysis bullosa simplex 6, generalized, with scarring and hair loss yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
8 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
- 14 of 14 reported patients · Congenital onset
- Dermal atrophyHPOHP:0004334
- 14 of 14 reported patients
- Diffuse palmoplantar hyperkeratosisHPOHP:0007447
- 15 of 15 reported patients
- Hypopigmentation of the skinHPOHP:0001010
- 14 of 14 reported patients
- Onychogryphosis of toenailsHPOHP:0008401
- 8 of 14 reported patients
- AlopeciaHPOHP:0001596
- 7 of 14 reported patients
- Alopecia of scalpHPOHP:0002293
- 1 of 5 reported patients · Young adult onset
- Dystrophic toenailHPOHP:0001810
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.
- KLHL24HGNC:25947
- Strong · Ambry Genetics · Autosomal dominant · 2025
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Moderate · G2P · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
5 names
Resolves to: epidermolysis bullosa simplex 6, generalized, with scarring and hair loss
- Also called
- EBSSHepidermolysis bullosa simplex, generalized, with scarring and hair lossepidermolysis bullosa simplex, generalized, with scarring and hair loss; EBSSHgeneralised basal epidermolysis bullosa simplex with skin atrophy, scarring and hair lossgeneralized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss