Pseudoxanthomatous Diffuse Cutaneous Mastocytosis

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.

Clinical Features

Phenotypes and symptoms related to Pseudoxanthomatous Diffuse Cutaneous Mastocytosis

  • Abnormal blistering of the skin
  • Cutaneous mastocytosis

Incidence and onset information

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.


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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
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
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
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
Specificity
1 %
Genes
100 %

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Sources and references

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ORPHANET Rare Disease Search Engine

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