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1 OMIM reference -
2 associated genes
6 signs/symptoms
PROTEIN INTERACTIONS: 1
Dermatofibrosarcoma protuberans
Centripetalis recessive dystrophic epidermolysis bullosa

COL1A1 COL7A1
PDGFB


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL1A1
(0.75)
COL7A1



Citations in the biomedical literature:


Dermatofibrosarcoma protuberans
COL1A1 PDGFB
Centripetalis recessive dystrophic epidermolysis bullosa
COL7A1



Dermatofibrosarcoma protuberans
Centripetalis recessive dystrophic epidermolysis bullosa

Synonym(s):
- DFSP

Synonym(s):
- Centripetal dystrophic epidermolysis bullosa
- Centripetal recessive dystrophic epidermolysis bullosa
- RDEB, centripetalis
- RDEB-Ce

Classification (Orphanet):
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: variable
Average age of death: adult
Type of inheritance: sporadic
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 -
1 MeSH reference: C538219
External references:
No OMIM references
No MeSH references

Dermatofibrosarcoma protuberans
Centripetalis recessive dystrophic epidermolysis bullosa

Very frequent
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Thick skin / pachydermia / orange skin

Frequent
- Chronic skin infection / ulcerations / ulcers / cancrum



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

Frequent
- Follicular / erythematous / edematous papules / milium