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Dermatofibrosarcoma protuberans
1 OMIM reference -
2 associated genes
106 connected diseases
6 signs/symptoms
Disease Type of connection
Osteogenesis imperfecta type 3
Ehlers-Danlos / osteogenesis imperfecta syndrome
High bone mass osteogenesis imperfecta
Osteogenesis imperfecta type 1
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 4
Bilateral striopallidodentate calcinosis
Ehlers-Danlos syndrome type 1
Caffey disease
Ehlers-Danlos syndrome type 7A
Ehlers-Danlos syndrome, vascular-like type
Familial multiple meningioma
Idiopathic hypereosinophilic syndrome
Ehlers-Danlos syndrome type 7B
Ehlers-Danlos syndrome, cardiac valvular type
Hereditary breast and ovarian cancer syndrome
Gastrointestinal stromal tumor
Myeloid neoplasm associated with PDGFRA rearrangement
Precursor B-cell acute lymphoblastic leukemia
Chronic myelomonocytic leukemia
Infantile myofibromatosis
Myeloid neoplasm associated with PDGFRB rearrangement
Unclassified chronic myeloproliferative disease
Dyssegmental dysplasia, Silverman-Handmaker type
Nodulosis-arthropathy-osteolysis syndrome
Schwartz-Jampel syndrome
Torg-Winchester syndrome
Von Willebrand disease type 1
Von Willebrand disease type 2A
Von Willebrand disease type 2B
Von Willebrand disease type 2M
Von Willebrand disease type 2N
Von Willebrand disease type 3
Acral dystrophic epidermolysis bullosa
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Centripetalis recessive dystrophic epidermolysis bullosa
Dystrophic epidermolysis bullosa pruriginosa
Dystrophic epidermolysis bullosa, nails only
Epidermolysis bullosa simplex superficialis
Generalized dominant dystrophic epidermolysis bullosa
Pretibial dystrophic epidermolysis bullosa
Recessive dystrophic epidermolysis bullosa inversa
Recessive dystrophic epidermolysis bullosa-generalized other
Severe generalized recessive dystrophic epidermolysis bullosa
Transient bullous dermolysis of the newborn
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Kufor-Rakeb syndrome
Ménière disease
Parkinsonim due to ATP13A2 deficiency
Fetal and neonatal alloimmune thrombocytopenia
Achondrogenesis type 2
Acrogeria
Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
Autosomal dominant rhegmatogenous retinal detachment
Bethlem myopathy
Congenital muscular dystrophy, Ullrich type
Czech dysplasia, metatarsal type
Dysspondyloenchondromatosis
Ehlers-Danlos syndrome type 2
Ehlers-Danlos syndrome, vascular type
Familial abdominal aortic aneurysm
Familial avascular necrosis of femoral head
Familial cerebral saccular aneurysm
Familial porencephaly
Familial vascular leukoencephalopathy
Hypochondrogenesis
Kniest dysplasia
Legg-Calvé-Perthes disease
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Multiple epiphyseal dysplasia, Beighton type
Otospondylomegaepiphyseal dysplasia
Platyspondylic dysplasia, Torrance type
Schizencephaly
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Spondyloepiphyseal dysplasia congenita
Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Schmidt type
Spondyloperipheral dysplasia - short ulna
Stickler syndrome type 1
Walker-Warburg syndrome
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Boomerang dysplasia
CARASIL
Congenital stromal corneal dystrophy
Familial pancreatic carcinoma
Familial prostate cancer
Granular corneal dystrophy type I
Granular corneal dystrophy type II
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Lattice corneal dystrophy type I
Microcystic corneal dystrophy
Primary peritoneal carcinoma
Reis-Bücklers corneal dystrophy
Spondylocarpotarsal synostosis
Thiel-Behnke corneal dystrophy
IRIDA syndrome
Metaphyseal anadysplasia
Costello syndrome
Fibronectin glomerulopathy
Linear nevus sebaceus syndrome
Phakomatosis pigmentokeratotica
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification
Temtamy syndrome
Synonym(s):
- DFSP
Classification (Orphanet):
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (ICD10):
(no data available)
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 -
1 MeSH reference: C538219
Gene symbol UniProt reference OMIM reference
COL1A1 P02452120150
PDGFB P01127190040
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