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2 OMIM references -
2 associated genes
10 signs/symptoms
COMMON GENES: 1
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4
1 OMIM reference -
1 associated gene
8 signs/symptoms
Epidermolytic ichthyosis
Ichthyosis hystrix of Curth-Macklin

KRT1 KRT1
KRT10


COMMON
GENES
KRT1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KRT10
(0.49)
KRT1



Citations in the biomedical literature:


Epidermolytic ichthyosis
KRT1 KRT10
Ichthyosis hystrix of Curth-Macklin



Epidermolytic ichthyosis
Ichthyosis hystrix of Curth-Macklin

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

Synonym(s):
- Ichthyosis hystrix, Curth-Macklin type

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

External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C536088


COMMON
SIGNS
- Autosomal dominant inheritance
- Chronic skin infection / ulcerations / ulcers / cancrum
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Ichthyosis / ichthyosiform dermatitis


Epidermolytic ichthyosis
Ichthyosis hystrix of Curth-Macklin

Very frequent
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment
- Weight loss / loss of appetite / break in weight curve / general health alteration

Frequent
- Pigmented naevi / naevus pigmentosus / lentigo

Occasional
- Follicular / conjunctival hamartomas
- Palmoplantar hyperkeratosis / keratoderma


Very frequent
- Follicular / erythematous / edematous papules / milium

Frequent
- Abnormal fingernails
- Contractures / cramps / trismus / tetania / claudication / opisthotonos

Occasional
- Gangrena / necrosis