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1 OMIM reference -
1 associated gene
5 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
15 signs/symptoms
Transient bullous dermolysis of the newborn
Caffey disease

COL7A1 COL1A1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL7A1
(0.75)
COL1A1



Citations in the biomedical literature:


Transient bullous dermolysis of the newborn
COL7A1
Caffey disease
COL1A1



Transient bullous dermolysis of the newborn
Caffey disease

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

Synonym(s):
- Infantile cortical hyperostosis

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -

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: -
Type of inheritance: autosomal dominant

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

Transient bullous dermolysis of the newborn
Caffey disease

Very frequent
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Irregular / patchy skin hypopigmentation
- Nails anomalies
- Oral mucosa disease / cheilitis
- Thin skin



Very frequent
- Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue
- Cortical anomaly / thick bone cortical layer

Frequent
- Bone tumefaction / swelling
- Fever / chilling
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hyperesthesia / allodynia / hyperalgia

Occasional
- Autosomal dominant inheritance
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Hypergammaglobulinemia
- Hyperleukocytosis / leukocytosis
- Proptosis / exophthalmos
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Scoliosis