Pseudoxanthomatous Diffuse Cutaneous Mastocytosis

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Pseudoxanthomatous diffuse cutaneous mastocytosis (PDCM) is a rare form of diffuse cutaneous mastocytosis (DCM; see this term) characterized by yellow-orange infiltrated and xanthogranuloma-like lesions with only limited blistering.

Genes related to Pseudoxanthomatous Diffuse Cutaneous Mastocytosis

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Clinical Features

Phenotypes and symptoms related to Pseudoxanthomatous Diffuse Cutaneous Mastocytosis

Abnormal blistering of the skin
Cutaneous mastocytosis

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Pseudoxanthomatous Diffuse Cutaneous Mastocytosis Is also known as infiltrative small vesicular dcm, infiltrative small vesicular diffuse cutaneous mastocytosis, pseudoxanthomatous dcm.

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.

Pseudoxanthomatous Diffuse Cutaneous Mastocytosis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
KIT related disorders - KIT Sequencing. By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States). KIT Specificity 100 % Genes 100 %
KIT Mutation Analysis. By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories (United States). KIT Specificity 100 % Genes 100 %
MyeloidDx by NGS. By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories (United States). RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, FBXW7, CDKN2A, PHF6, ASXL1, CEBPA , (...) View the complete list with 32 more genes Panel complete gene list RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, FBXW7, CDKN2A, PHF6, ASXL1, CEBPA, BCOR, ZRSR2, CSF3R, SMC3, CUX1, BCORL1, TET2, DNMT3A, ETV6, EZH2, FLT3, GATA1, GATA2, GNAS, HRAS, IDH1, IDH2, JAK2, JAK3, KIT, KRAS, MPL, MYD88, ABL1, NOTCH1, NPM1, NRAS, PDGFRA, ATRX, PTEN, PTPN11, RAD21 Specificity 2 % Genes 100 %
MyeloidDx by NGS. By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories (United States). RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, CBLC, FBXW7, CDKN2A, PHF6, CEBPA , (...) View the complete list with 31 more genes Panel complete gene list RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, CBLC, FBXW7, CDKN2A, PHF6, CEBPA, BCOR, ZRSR2, CSF3R, SMC3, CUX1, BCORL1, DNMT3A, ETV6, EZH2, FLT3, GATA1, GATA2, GNAS, HRAS, IDH1, IDH2, JAK2, JAK3, KIT, KRAS, MPL, MYD88, ABL1, NOTCH1, NPM1, NRAS, PDGFRA, ATRX, PTEN, PTPN11, RAD21 Specificity 2 % Genes 100 %
Hereditary Gastric Cancer Panel. By Genetic Services Laboratory University of Chicago (United States). SDHB, SDHC, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, CDH1, CTNNA1, APC, KIT, SMAD4, MLH1, MSH2, MSH6, PDGFRA, PMS2, PTEN Specificity 6 % Genes 100 %
KIT. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). KIT Specificity 100 % Genes 100 %
Hereditary Colorectal and Gastrointestinal Cancer Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States). BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, CDH1, CDK4, CDKN2A, PALB2, APC, KIT, SMAD4, MLH1, MSH2, MSH6, MUTYH, ATM, PMS2, POLD1 , (...) View the complete list with 2 more genes Panel complete gene list BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, CDH1, CDK4, CDKN2A, PALB2, APC, KIT, SMAD4, MLH1, MSH2, MSH6, MUTYH, ATM, PMS2, POLD1, POLE, PTEN Specificity 5 % Genes 100 %
CHOP Comprehensive Hereditary Cancer Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States). RMRP, RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, SH2D1A, SLC25A13, BRCA1, BRCA2, SMARCA4, SMARCB1, SMARCE1, BUB1B, EPCAM, XPA, IKZF1, CBL , (...) View the complete list with 85 more genes Panel complete gene list RMRP, RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, SH2D1A, SLC25A13, BRCA1, BRCA2, SMARCA4, SMARCB1, SMARCE1, BUB1B, EPCAM, XPA, IKZF1, CBL, CDC73, HAX1, DICER1, ARID5B, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CEBPE, DDX41, DOCK8, SBDS, BRIP1, RHBDF2, COL7A1, G6PC3, CYLD, SDHAF2, PALB2, DDB2, FLCN, DIS3L2, DKC1, EGFR, ELANE, ERCC2, ERCC3, ERCC4, ERCC5, ETV6, EXT1, EXT2, FAH, FANCA, FANCC, FANCG, FH, GATA2, GBA, ABCB11, ALK, GJB2, GPC3, HFE, HMBS, HRAS, APC, ITK, KIT, SMAD4, MAX, MEN1, MET, MLH1, MPL, MSH2, MSH6, MTAP, MUTYH, NBN, NF1, NF2, ATM, PAX5, PDGFRA, SERPINA1, AXIN2, PMS2, PHOX2B, POLD1, POLE, POLH, PRKAR1A, PRSS1, BAP1, PTCH1, PTEN, PTPN11, RAD51C, RAD51D, RB1, RECQL4, RET Specificity 1 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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