acral dystrophic epidermolysis bullosa
Findings
No curated finding names acral dystrophic epidermolysis bullosa yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blistering confined primarily to the hands and feet.
Definition from the Mondo Disease Ontology (MONDO:0015552), read 2026-09-29. CC BY 4.0.
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
- Frequent (30% to 79% of cases)
- Abnormality of the lower limbHPOHP:0002814
- Frequent (30% to 79% of cases)
- Acral blisteringHPOHP:0031045
- Frequent (30% to 79% of cases)
- Crusting erythematous dermatitisHPOHP:0007473
- Frequent (30% to 79% of cases)
- Cutaneous photosensitivityHPOHP:0000992
- Frequent (30% to 79% of cases)
- Dermal atrophyHPOHP:0004334
- Frequent (30% to 79% of cases)
- Dystrophic fingernailsHPOHP:0008391
- Frequent (30% to 79% of cases)
- Dystrophic toenailHPOHP:0001810
- Frequent (30% to 79% of cases)
- ErythemaHPOHP:0010783
- Frequent (30% to 79% of cases)
- Erythematous plaqueHPOHP:0025474
- Frequent (30% to 79% of cases)
- Esophageal strictureHPOHP:0002043
- Frequent (30% to 79% of cases)
- Fragile skinHPOHP:0001030
- Frequent (30% to 79% of cases)
Show the remaining 8
- MiliaHPOHP:0001056
- Frequent (30% to 79% of cases)
- Palmoplantar hyperkeratosisHPOHP:0000972
- Frequent (30% to 79% of cases)
- PoikilodermaHPOHP:0001029
- Frequent (30% to 79% of cases)
- TelangiectasiaHPOHP:0001009
- Frequent (30% to 79% of cases)
- Thin skinHPOHP:0000963
- Frequent (30% to 79% of cases)
- Abnormality of the elbowHPOHP:0009811
- 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
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: acral dystrophic epidermolysis bullosa
- Also called
- DEB-acDEB, acral