Dermatofibrosarcoma Protuberans

Description

Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22).

Clinical Features

Top most frequent phenotypes and symptoms related to Dermatofibrosarcoma Protuberans

  • Neoplasm
  • Aggressive behavior
  • Erythema
  • Leukemia
  • Subcutaneous nodule
  • Thickened skin
  • Skin ulcer
  • Neoplasm of the skin
  • Sarcoma
  • Chronic myelogenous leukemia

And another 3 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available DERMATOFIBROSARCOMA PROTUBERANS have a estimated prevalence of 10 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Dermatofibrosarcoma Protuberans Is also known as dfsp, giant cell fibroblastoma.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Dermatofibrosarcoma Protuberans Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Dystonia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, SCN8A, SCP2, SDHA, SGCE, SLC16A2, SLC20A2, SLC2A1, SLC6A3, SLC6A8, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TAF1, TBCD, TH , (...)

View the complete list with 150 more genes
Specificity
1 %
Genes
50 %
PDGFB. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

PDGFB
Specificity
100 %
Genes
50 %
Dermatofibrosarcoma protuberans (sequence analysis of PDGFB gene).

By CGC Genetics (Portugal).

PDGFB
Specificity
100 %
Genes
50 %
Idiopathic Basal Ganglia Calcification Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC20A2, XPR1, PDGFB, PDGFRB
Specificity
25 %
Genes
50 %
Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC20A2, SLC6A3, SNCA, SNCB, SPG11, SPR, SYNJ1, TAF1, TARDBP, TWNK, TH, GIGYF2, UCHL1, XPR1, VPS35, FBXO7, HTRA2, PINK1, DNAJC6, CHCHD10 , (...)

View the complete list with 48 more genes
Specificity
2 %
Genes
50 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center (Germany).

BCS1L, RTN2, RYR1, SACS, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, AIMP1, SDHA, SDHB, SDHC, SDHD, SGCE, SLC16A2, SLC17A5, SLC19A2, SLC1A3 , (...)

View the complete list with 572 more genes
Specificity
1 %
Genes
50 %
Dermatofibrosarcoma protuberans.

By Centogene AG - the Rare Disease Company (Germany).

PDGFB
Specificity
100 %
Genes
50 %
Basal ganglia calcification Panel.

By CeGaT GmbH (Germany).

SLC20A2, BRAF, TBCE, TREX1, TYROBP, XPR1, CA2, PANK2, SAMHD1, TREM2, RNASEH2A, IFIH1, COL4A1, ADAR, RNASEH2C, RNASEH2B, CTC1, ERCC6, ERCC8, AIRE , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
50 %

We have 13 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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