Dermatofibrosarcoma protuberans
General Information (adopted from Orphanet):
| Synonyms, Signs: |
GIANT CELL FIBROBLASTOMA DFSP |
| Number of Symptoms | 6 |
| OrphanetNr: | 31112 |
| OMIM Id: |
607907
|
| ICD-10: |
|
| UMLs: |
C0392784 |
| MeSH: |
C538219 |
| MedDRA: |
10057070 |
| Snomed: |
128742004 238863004 276799004 |
Prevalence, inheritance and age of onset:
| Prevalence: | 10 of 100 000 [Orphanet] |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic skin tumor
-Rare genetic disease Genetic soft tissue tumor -Rare genetic disease Rare skin tumor or hamartoma -Rare oncologic disease -Rare skin disease Soft tissue sarcoma -Rare oncologic disease |
Symptom Information:
|
|
(HPO:0001072) | Thickened skin | Very frequent [Orphanet] | 87 / 7739 | |||
|
|
(HPO:0200042) | Skin ulcer | Frequent [Orphanet] | 138 / 7739 | |||
|
|
(HPO:0010783) | Erythema | Very frequent [Orphanet] | 138 / 7739 | |||
|
|
(HPO:0001031) | Subcutaneous lipoma | Very frequent [Orphanet] | 112 / 7739 | |||
|
|
(HPO:0008069) | Neoplasm of the skin | Very frequent [Orphanet] | 84 / 7739 | |||
|
|
(HPO:0030448) | Soft tissue sarcoma | Very frequent [Orphanet] | 18 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Description: (OMIM) |
Dermatofibrosarcoma protuberans (DFSP) is an uncommon, locally aggressive, but rarely metastasizing tumor of the deep dermis and subcutaneous tissue. It typically presents during early or middle adult life and is most frequently located on the trunk and proximal ... |
| Clinical Description OMIM |
DFSP was first described by Taylor (1890). Sirvent et al. (2003) stated that, because DFSP is relatively rare, grows slowly, and has a low level of aggressiveness, its clinical significance has been underestimated. In particular, they noted that ... |
| Molecular genetics OMIM |
Nakanishi et al. (2007) used RT-PCR to examine the COL1A1/PDGFB transcript using frozen biopsy specimens from 3 unrelated patients with DFSP and identified fusion of COL1A1 exon 25, exon 31, and exon 46, respectively, to exon 2 of ... |