generalized dominant dystrophic epidermolysis bullosa
Findings
No curated finding names generalized dominant dystrophic epidermolysis bullosa yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails.
Definition from the Mondo Disease Ontology (MONDO:0007549), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Neonatal onset
HPO, annotations 2026-09-02
Features
16 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
- 14 of 14 reported patients
- Very frequent (80% to 99% of cases)
- Sub-lamina densa cleavageHPOHP:0033803
- 2 of 2 reported patients
- Atypical scarring of skinHPOHP:0000987
- Very frequent (80% to 99% of cases)
- Acral blisteringHPOHP:0031045
- Frequent (30% to 79% of cases)
- Dystrophic toenailHPOHP:0001810
- Frequent (30% to 79% of cases)
- Fragile skinHPOHP:0001030
- Frequent (30% to 79% of cases)
Show the remaining 4
- Erosion of oral mucosaHPOHP:0031446
- Occasional (5% to 29% of cases)
- Oral mucosal blistersHPOHP:0200097
- Occasional (5% to 29% of cases)
- Recurrent loss of toenails and fingernailsHPOHP:0008390
- Occasional (5% to 29% of cases)
- Skin erosionHPOHP:0200041
- 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.
- COL7A1HGNC:2214
- Definitive · Natera · Autosomal dominant · 2022
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
6 names
Resolves to: generalized dominant dystrophic epidermolysis bullosa
- Also called
- autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine typesDDEB-genDDEB, generalisedDDEB, generalizedDDEB, Pasini and Cockayne-Touraine typesepidermolysis bullosa dystrophica, AD