dystrophic epidermolysis bullosa pruriginosa
Findings
No curated finding names dystrophic epidermolysis bullosa pruriginosa yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus.
Definition from the Mondo Disease Ontology (MONDO:0011398), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
20 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)
- PruritusHPOHP:0000989
- Very frequent (80% to 99% of cases)
- Abnormality of the elbowHPOHP:0009811
- Frequent (30% to 79% of cases)
- Abnormality of the wristHPOHP:0003019
- Frequent (30% to 79% of cases)
- LichenificationHPOHP:0100725
- Frequent (30% to 79% of cases)
- Nail dystrophyHPOHP:0008404
- Frequent (30% to 79% of cases)
- Pretibial blistering
Show the remaining 8
- Dermal atrophyHPOHP:0004334
- Occasional (5% to 29% of cases)
- HyperkeratosisHPOHP:0000962
- Occasional (5% to 29% of cases)
- Lamina lucida cleavageHPOHP:0003341
- Occasional (5% to 29% of cases)
- MiliaHPOHP:0001056
- Occasional (5% to 29% of cases)
- PapuleHPOHP:0200034
- Occasional (5% to 29% of cases)
- ScarringHPOHP:0100699
- 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 · G2P · Autosomal dominant · 2019
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: dystrophic epidermolysis bullosa pruriginosa
- Also called
- DEB-PrDEB, pruriginosapruriginous dystrophic epidermolysis bullosa