Transient bullous dermolysis of the newborn

Preferred Label : Transient bullous dermolysis of the newborn;

Symbol : TBDN;

CISMeF acronym : TBDN;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epidermolysis bullosa dystrophica, neonatal form; Dystrophic epidermolysis bullosa, neonatal;

Description : Transient bullous dermolysis of the newborn is a rare form of dystrophic epidermolysis bullosa (DEB) that presents with neonatal skin blistering but usually improves markedly during early life and even remits completely. Skin biopsies reveal abnormal intraepidermal accumulation of type VII collagen, which results in poorly constructed anchoring fibrils and a sublamina densa plane of blister formation (summary by Fassihi et al., 2005).;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the collagen type VII, alpha-1 gene (COL7A1, 120120.0014).;

Prefixed ID : #131705;

Details

Origin ID

131705;

UMLS CUI

C1851573;

Currated CISMeF NLP mapping
- Self-improving dystrophic epidermolysis bullosa [ORDO Disease]
- Transient bullous dermolysis of newborn (disorder) [SNOMED CT concept]
- Transient bullous dermolysis of the newborn [MeSH concept]
- transient bullous dermolysis of the newborn [Disease (Nov.)]
- transient bullous dermolysis of the newborn [DO Concept]
- transient bullous dermolysis of the newborn [MeSH Supplementary Concept]
DO Cross reference
- transient bullous dermolysis of the newborn [DO Concept]
Genes related to phenotype
- Collagen, type VII, alpha-1 [OMIM gene]
HPO term(s)
- Abnormal blistering of the skin [HPO term]
- Atrophic scars [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital onset [HPO term]
- Fragile skin [HPO term]
- Milia [HPO term]
- Nail dystrophy [HPO term]
ORDO concept(s)
- Self-improving dystrophic epidermolysis bullosa [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Self-improving dystrophic epidermolysis bullosa [ORDO Disease]
- Transient bullous dermolysis of newborn (disorder) [SNOMED CT concept]
- Transient bullous dermolysis of the newborn [MeSH concept]
- transient bullous dermolysis of the newborn [MeSH Supplementary Concept]
- transient bullous dermolysis of the newborn [Disease (Nov.)]
- transient bullous dermolysis of the newborn [DO Concept]

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