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1 OMIM reference -
2 associated genes
4 signs/symptoms
PROTEIN INTERACTIONS: 1
3 OMIM references -
3 associated genes
3 signs/symptoms
Localized epidermolysis bullosa simplex
Self-healing collodion baby

KRT14 ALOX12B
KRT5 ALOXE3
TGM1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KRT5
(0.65)
ALOX12B



Citations in the biomedical literature:


Localized epidermolysis bullosa simplex
KRT14 KRT5
Self-healing collodion baby
ALOX12B ALOXE3 TGM1



Localized epidermolysis bullosa simplex
Self-healing collodion baby

Synonym(s):
- EBS-loc
- Epidermolysis bullosa simplex of palms and soles
- Epidermolysis bullosa simplex, Weber-Cockayne type

Synonym(s):
- SHCB

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- 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: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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

Localized epidermolysis bullosa simplex
Self-healing collodion baby

Very frequent
- Autosomal dominant inheritance
- Ecchymoses
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Hyperhidrosis / increased sweating



Very frequent
- Autosomal recessive inheritance
- Ichthyosis / ichthyosiform dermatitis
- Restricted joint mobility / joint stiffness / ankylosis