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Acral dystrophic epidermolysis bullosa

1 associated gene
6 signs/symptoms

PROTEIN INTERACTIONS: 1

Dermatofibrosarcoma protuberans

1 OMIM reference -
2 associated genes
6 signs/symptoms

Acral dystrophic epidermolysis bullosa

Dermatofibrosarcoma protuberans

COL7A1	(UniProt - OMIM)		COL1A1	(UniProt - OMIM)
			PDGFB	(UniProt - OMIM)


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

Citations in the biomedical literature:

Acral dystrophic epidermolysis bullosa		Dermatofibrosarcoma protuberans
	Synonym(s): - DEB, acral - DEB-ac		Synonym(s): - DFSP

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

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: variable Average age of death: adult Type of inheritance: sporadic

	External references: No OMIM references No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C538219

Acral dystrophic epidermolysis bullosa		Dermatofibrosarcoma protuberans
	Very frequent - Autosomal dominant inheritance - Autosomal recessive inheritance - Follicular / erythematous / edematous papules / milium - Nails anomalies - Skin hypoplasia / aplasia / atrophy - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment		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