recessive dystrophic epidermolysis bullosa inversa
Findings
No curated finding names recessive dystrophic epidermolysis bullosa inversa yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area.
Definition from the Mondo Disease Ontology (MONDO:0019310), 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.
- Fragile skinHPOHP:0001030
- Very frequent (80% to 99% of cases)
- Abnormal blistering of the skinHPOHP:0008066
- Frequent (30% to 79% of cases)
- Abnormality of the urinary systemHPOHP:0000079
- Frequent (30% to 79% of cases)
- AnonychiaHPOHP:0001798
- Frequent (30% to 79% of cases)
- Atrophic scarsHPOHP:0001075
- Frequent (30% to 79% of cases)
- Carious teethHPOHP:0000670
- Frequent (30% to 79% of cases)
- Gastrointestinal inflammationHPO
Reported absent (8)
- Abnormal respiratory system morphologyHPOHP:0012252
- Abnormal scalp morphologyHPOHP:0001965
- Abnormality of the eyeHPOHP:0000478
- Basal cell carcinomaHPOHP:0002671
- Cutaneous melanomaHPOHP:0012056
- Enamel hypoplasiaHPOHP:0006297
- Palmoplantar keratodermaHPOHP:0000982
- Squamous cell carcinomaHPOHP:0002860
Show the remaining 8
- AnemiaHPOHP:0001903
- Occasional (5% to 29% of cases)
- Esophageal strictureHPOHP:0002043
- Occasional (5% to 29% of cases)
- Growth delayHPOHP:0001510
- Occasional (5% to 29% of cases)
- Mitten deformityHPOHP:0004057
- Occasional (5% to 29% of cases)
- Palmoplantar blisteringHPOHP:0007446
- Occasional (5% to 29% of cases)
- Stenosis of the external auditory canalHPOHP:0000402
- 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 recessive · 2021
Where it sits
Other names
4 names
Resolves to: recessive dystrophic epidermolysis bullosa inversa
- Also called
- dystrophic epidermolysis bullosa inversainverse RDEBinverse recessive dystrophic epidermolysis bullosaRDEB-I