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Dermatofibrosarcoma protuberans

1 OMIM reference -
2 associated genes
6 signs/symptoms

COMMON GENES: 1
PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
15 signs/symptoms

Dermatofibrosarcoma protuberans

Caffey disease

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


COMMON GENES	COL1A1


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PDGFB	(0.81)	COL1A1

Citations in the biomedical literature:

Dermatofibrosarcoma protuberans		Caffey disease
	Synonym(s): - DFSP		Synonym(s): - Infantile cortical hyperostosis

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

	Classification (ICD10): (no data available)		Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue -

	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: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

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

Dermatofibrosarcoma protuberans		Caffey disease
	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 - Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue - Cortical anomaly / thick bone cortical layer Frequent - Bone tumefaction / swelling - Fever / chilling - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Hyperesthesia / allodynia / hyperalgia Occasional - Autosomal dominant inheritance - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Hypergammaglobulinemia - Hyperleukocytosis / leukocytosis - Proptosis / exophthalmos - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Scoliosis