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2 OMIM references -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 2
3 associated genes
4 signs/symptoms
Epidermolytic ichthyosis
Well-differentiated liposarcoma

KRT1 CDK4
KRT10 HMGA2
MDM2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KRT1
KRT10
(0.82)
(0.63)
MDM2
MDM2



Citations in the biomedical literature:


Epidermolytic ichthyosis
KRT1 KRT10
Well-differentiated liposarcoma
CDK4 HMGA2 MDM2



Epidermolytic ichthyosis
Well-differentiated liposarcoma

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

Synonym(s):
- ALT
- Atypical lipoma
- Atypical lipomatous tumor
- WDLS

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare oncologic disease

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

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: unknown
Average age onset: adulthood
Average age of death: adult
Type of inheritance: sporadic

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

Epidermolytic ichthyosis
Well-differentiated liposarcoma

Very frequent
- Autosomal dominant inheritance
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Ichthyosis / ichthyosiform dermatitis
- 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
- Chronic skin infection / ulcerations / ulcers / cancrum
- Follicular / conjunctival hamartomas
- Palmoplantar hyperkeratosis / keratoderma


Very frequent
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma
- Subcutaneous nodules / lipomas / tumefaction / swelling

Occasional
- Functional anomalies of the kidney and the urinary tract
- Intestinal transit disorder