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Epidermolytic ichthyosis
2 OMIM references -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 1
Desmoid tumor
1 OMIM reference -
2 associated genes
21 signs/symptoms
Epidermolytic ichthyosis
Desmoid tumor

KRT1
(UniProt - OMIM)
 APC
(UniProt - OMIM)
KRT10
(UniProt - OMIM)
 CTNNB1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
KRT1
(0.72)
APC


Citations in the biomedical literature:


Epidermolytic ichthyosis
KRT1 KRT10
Desmoid tumor
APC CTNNB1



Epidermolytic ichthyosis
Desmoid tumor

Synonym(s):
- BCIE
- Bullous congenital ichthyosiform erythroderma
- Bullous congenital ichthyosiform erythroderma of Brock
- Bullous ichthyosis
- EHK
- EI
- Epidermolytic hyperkeratosis
Synonym(s):
- Aggressive fibromatosis
- Desmoid type fibromatosis
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: adolescence / young
Average age of death: normal
Type of inheritance: sporadic
External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Epidermolytic ichthyosis
Desmoid tumor

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
- Anomalies of the abdominal wall
- Fibromatosis / bone fibroma
- Muscle anomalies
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma
- Subcutaneous nodules / lipomas / tumefaction / swelling

Frequent
- Acute abdominal pain / colic
- Myalgia / muscular pain
- Polyposis of the bowel / colon / intestine

Occasional
- Articular / joint pain / arthralgia
- Bladder and ureter anomalies
- Early death / lethality
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Intestinal obstruction / ileus
- Malabsorption / chronic diarrhea / steatorrhea
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Osteolysis / osteoclasia / bone destruction / erosions
- Restricted joint mobility / joint stiffness / ankylosis
- Retinitis pigmentosa / retinal pigmentary changes
- Sepsis severe / septicemia
- Skin tumors / lumps / epidermal cysts
- Thoracic / chest pain