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Dermatofibrosarcoma protuberans

1 OMIM reference -
2 associated genes
6 signs/symptoms

PROTEIN INTERACTIONS: 1

Costello syndrome

1 OMIM reference -
2 associated genes
46 signs/symptoms

Dermatofibrosarcoma protuberans

Costello syndrome

COL1A1	(UniProt - OMIM)		HRAS	(UniProt - OMIM)
PDGFB	(UniProt - OMIM)		KRAS	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PDGFB	(0.52)	HRAS

Citations in the biomedical literature:

Dermatofibrosarcoma protuberans		Costello syndrome
	Synonym(s): - DFSP		Synonym(s): - FCS syndrome - Faciocutaneoskeletal syndrome - Intellectual deficit - nasal papillomata

	Classification (Orphanet): - Rare genetic disease - Rare oncologic disease - Rare skin disease		Classification (Orphanet): - Rare cardiac disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare oncologic 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: 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 - 1 MeSH reference: D056685

Dermatofibrosarcoma protuberans		Costello syndrome
	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 - Acanthosis nigricans - Anomalies of skin, subcutaneous tissue and mucosae - Antenatal exposure : alcohol - Delayed bone age - Depressed nasal bridge - Enamel anomaly - Failure to thrive / difficulties for feeding in infancy / growth delay - High vaulted / narrow palate - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Loose skin / skin relaxation / excess skin / creases - Macrocephaly / macrocrania / megalocephaly / megacephaly - Pulmonary valve atresia / stenosis / narrowing - Short neck - Short stature / dwarfism / nanism - Thin / hypoplastic / hyperconvex fingernails - Tight skin / lack of elasticity - Ventricular septal defect / interventricular communication - Woolly / frizzy hair Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Abnormal dermatoglyphics - Broad cheeks / cherub-like / cherubin face - Cardiomyopathy / hypertrophic / dilated - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Epicanthic folds - Excess nuchal skin without pterygium colli - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Hyperextensible joints / articular hyperlaxity - Intellectual deficit / mental / psychomotor retardation / learning disability - Keratoconus / keratoglobus - Macroglossia / tongue protrusion / proeminent / hypertrophic - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Polyhydramnios - Strabismus / squint - Tendon rupture / tendinitis / bursitis / tenosynovitis - Thick lips - Thin / hypoplastic toenails - Ulnar deviation of fingers - Undescended / ectopic testes / cryptorchidia / unfixed testes - Warts / papillomas Occasional - Coarse face - Diffuse / generalised skin hyperpigmentation / melanoderma - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Hair and scalp anomalies - Large face - Low set ears / posteriorly rotated ears - Thick / wide ear lobe