Cutaneous Mastocytoma

Description

Cutaneous mastocytoma is a form of cutaneous mastocytosis (CM, see this term) generally characterized by the presence of a solitary or multiple hyperpigmented macules, plaques or nodules associated with abnormal accumulation of mast cells in the skin.

Clinical Features

Phenotypes and symptoms related to Cutaneous Mastocytoma

  • Headache
  • Abdominal pain
  • Pruritus
  • Abnormality of skin pigmentation
  • Abnormal blistering of the skin
  • Subcutaneous nodule
  • Thickened skin
  • Urticaria
  • Hypermelanotic macule
  • 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

Cutaneous Mastocytoma Is also known as solitary mastocytoma, cutaneous local mastocytoma, multiple mastocytoma.

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.

Cutaneous Mastocytoma 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 %

You can get up to 113 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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