pretibial dystrophic epidermolysis bullosa
Findings
No curated finding names pretibial dystrophic epidermolysis bullosa yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region.
Definition from the Mondo Disease Ontology (MONDO:0007552), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
23 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.
- Nail dystrophyHPOHP:0008404
- 8 of 8 reported patients
- Frequent (30% to 79% of cases)
- PruritusHPOHP:0000989
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Atrophic scarsHPOHP:0001075
- 7 of 8 reported patients
- Frequent (30% to 79% of cases)
- Abnormal blistering of the skinHPOHP:0008066
- Very frequent (80% to 99% of cases)
- Localized skin lesionHPOHP:0011355
- Very frequent (80% to 99% of cases)
- Pretibial blisteringHPOHP:0012221
- 6 of 8 reported patients
Show the remaining 11
- MiliaHPOHP:0001056
- Frequent (30% to 79% of cases)
- Palmoplantar blisteringHPOHP:0007446
- Frequent (30% to 79% of cases)
- Abnormality of the eyeHPOHP:0000478
- Occasional (5% to 29% of cases)
- Carious teethHPOHP:0000670
- Occasional (5% to 29% of cases)
- Erythematous papuleHPOHP:0030350
- Occasional (5% to 29% of cases)
- Hyperkeratotic papuleHPOHP:0045059
- 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
- 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
2 names
Resolves to: pretibial dystrophic epidermolysis bullosa
- Also called
- DEB-Ptpretibial DEB