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1 OMIM reference -
2 associated genes
4 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
2 OMIM references -
2 associated genes
10 signs/symptoms
Localized epidermolysis bullosa simplex
Epidermolytic ichthyosis

KRT14 KRT1
KRT5 KRT10


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KRT5
(0.52)
KRT1



Citations in the biomedical literature:


Localized epidermolysis bullosa simplex
KRT14 KRT5
Epidermolytic ichthyosis
KRT1 KRT10



Localized epidermolysis bullosa simplex
Epidermolytic ichthyosis

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

Synonym(s):
- BCIE
- Bullous congenital ichthyosiform erythroderma
- Bullous congenital ichthyosiform erythroderma of Brock
- Bullous ichthyosis
- EHK
- EI
- Epidermolytic hyperkeratosis

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: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Autosomal dominant inheritance
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment


Localized epidermolysis bullosa simplex
Epidermolytic ichthyosis

Very frequent
- Ecchymoses

Frequent
- Hyperhidrosis / increased sweating



Very frequent
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Ichthyosis / ichthyosiform dermatitis
- Weight loss / loss of appetite / break in weight curve / general health alteration

Frequent
- Pigmented naevi / naevus pigmentosus / lentigo

Occasional
- Chronic skin infection / ulcerations / ulcers / cancrum
- Follicular / conjunctival hamartomas
- Palmoplantar hyperkeratosis / keratoderma