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1 OMIM reference -
1 associated gene
5 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 3
1 OMIM reference -
1 associated gene
16 signs/symptoms
Transient bullous dermolysis of the newborn
Generalized dominant dystrophic epidermolysis bullosa

COL7A1 COL7A1


COMMON
GENES
COL7A1



Citations in the biomedical literature:


Transient bullous dermolysis of the newborn
COL7A1
Generalized dominant dystrophic epidermolysis bullosa



Transient bullous dermolysis of the newborn
Generalized dominant dystrophic epidermolysis bullosa

Synonym(s):
- DEB, bullous dermolysis of the newborn
- DEB-BDN

Synonym(s):
- Autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types
- DDEB, Pasini and Cockayne-Touraine types
- DDEB, generalized
- DDEB-gen

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: C536979
External references:
1 OMIM reference -
No MeSH references


COMMON
SIGNS
- Irregular / patchy skin hypopigmentation
- Oral mucosa disease / cheilitis
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment


Transient bullous dermolysis of the newborn
Generalized dominant dystrophic epidermolysis bullosa

Frequent
- Nails anomalies
- Thin skin



Very frequent
- Abnormal fingernails
- Abnormal toenails
- Autosomal dominant inheritance

Frequent
- Abnormal scarring / cheloids / hypertrophic scars
- Multiple caries
- Skin hypoplasia / aplasia / atrophy

Occasional
- Anaemia
- Corneal ulceration / perforation
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Follicular / erythematous / edematous papules / milium
- Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria
- Tracheo-esophageal fistula / esophageal atresia / stenosis
- Urethral anomalies / stenosis / posterior urethral valves / megalocystis