ODCs

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Severe generalized recessive dystrophic epidermolysis bullosa

1 OMIM reference -
2 associated genes
35 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Dermatofibrosarcoma protuberans

1 OMIM reference -
2 associated genes
6 signs/symptoms

Severe generalized recessive dystrophic epidermolysis bullosa

Dermatofibrosarcoma protuberans

COL7A1	(UniProt - OMIM)		COL1A1	(UniProt - OMIM)
MMP1	(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:

Severe generalized recessive dystrophic epidermolysis bullosa		Dermatofibrosarcoma protuberans
	Synonym(s): - Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis - Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type - RDEB generalisata gravis - RDEB, Hallopeau-Siemens type - RDEB-sev gen - Severe generalized RDEB		Synonym(s): - DFSP

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - 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: adult Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: variable Average age of death: adult Type of inheritance: sporadic

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


COMMON SIGNS	- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)

Severe generalized recessive dystrophic epidermolysis bullosa		Dermatofibrosarcoma protuberans
	Very frequent - Abnormal fingernails - Abnormal scarring / cheloids / hypertrophic scars - Abnormal toenails - Absent / small fingernails / anonychia of hands - Absent / small toenails / anonychia of feet - Anaemia - Ankyloglossia / lingual synechiae - Anus / rectum anomalies - Autosomal recessive inheritance - Constipation - Enanthema / aphtosa / aphta / leukoplakia - Failure to thrive / difficulties for feeding in infancy / growth delay - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Follicular / erythematous / edematous papules / milium - Microstomia / little mouth - Multiple caries - Pruritus / itching - Skin hypoplasia / aplasia / atrophy - Tracheo-esophageal fistula / esophageal atresia / stenosis - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Alopecia - Anomalies of hands - Corneal ulceration / perforation - Foot anomalies - Late puberty / hypogonadism / hypogenitalism - Musculo-tendinous retractions - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Syndactyly of fingers / interdigital palm - Syndactyly of toes Occasional - Anomalies of eyelids, eyelashes and lacrimal system - Blepharitis / eyelid inflammation - Ectropion / entropion / eyelid eversion - Mild visual loss / impaired visual acuity - Visual loss / blindness / amblyopia		Very frequent - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma - Subcutaneous nodules / lipomas / tumefaction / swelling - Thick skin / pachydermia / orange skin Frequent - Chronic skin infection / ulcerations / ulcers / cancrum