dystrophic epidermolysis bullosa, nails only
Findings
No curated finding names dystrophic epidermolysis bullosa, nails only yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB) that shows no blistering and that is characterized by dystrophic or absent nails.
Definition from the Mondo Disease Ontology (MONDO:0015553), read 2026-09-29. CC BY 4.0.
Features
8 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 nailsHPOHP:0001808
- Very frequent (80% to 99% of cases)
- Nail dystrophyHPOHP:0008404
- Very frequent (80% to 99% of cases)
- OnychogryphosisHPOHP:0001805
- Very frequent (80% to 99% of cases)
- Dystrophic fingernailsHPOHP:0008391
- Frequent (30% to 79% of cases)
- Dystrophic toenailHPOHP:0001810
- Frequent (30% to 79% of cases)
- Onychogryphosis of fingernailHPOHP:0040036
- Frequent (30% to 79% of cases)
- Onychogryphosis of toenailsHPOHP:0008401
- Frequent (30% to 79% of cases)
- Absent toenailHPOHP:0001802
- Occasional (5% to 29% of cases)
Reported absent (3)
- Abnormal blistering of the skinHPOHP:0008066
- Abnormal skin morphologyHPOHP:0011121
- Fragile skinHPOHP:0001030
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
3 names
Resolves to: dystrophic epidermolysis bullosa, nails only
- Also called
- DEB-nanails-only DDEBnails-only DEB