transient bullous dermolysis of the newborn
Findings
No curated finding names transient bullous dermolysis of the newborn yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life.
Definition from the Mondo Disease Ontology (MONDO:0007548), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
13 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
- 6 of 6 reported patients · Neonatal onset
- Frequent (30% to 79% of cases)
- Generalized abnormality of skinHPOHP:0011354
- Very frequent (80% to 99% of cases)
- Abnormal subungual morphologyHPOHP:0009723
- Frequent (30% to 79% of cases)
- AnonychiaHPOHP:0001798
- Frequent (30% to 79% of cases)
- Atrophic scarsHPOHP:0001075
- Frequent (30% to 79% of cases)
- Fragile skinHPOHP:0001030
- Frequent (30% to 79% of cases)
Show the remaining 1
- Abnormal skin pigmentationHPOHP:0001000
- Very rare (1% to 4% 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
1 name
Resolves to: transient bullous dermolysis of the newborn
- Also called
- transient bullous of the newborn