Pilomatrixoma

Description

Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome (see these terms).

Clinical Features

Phenotypes and symptoms related to Pilomatrixoma

  • Neoplasm
  • Carcinoma
  • Neoplasm of the skin
  • Pilomatrixoma

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

Pilomatrixoma Is also known as epithelioma calcificans of malherbe, pilomatricoma, ptr.

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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Pilomatrixoma Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

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Non-Specific Intellectual Disability Panel.

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

RPS6KA3, CLIP1, SCN2A, ST3GAL3, SLC16A2, SLC25A1, SLC6A8, SLC9A6, SMARCA4, SMARCB1, ARID1A, SMC1A, KDM5C, SMS, SOX11, CDKL5, STXBP1, SYN1, SYNGAP1, SYP , (...)

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Microcephaly Sequencing Panel.

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

STIL, SLC2A1, SLC9A6, PLK4, CDKL5, TCF4, UBE3A, WWOX, RAB18, CRIPT, SLC25A19, ZEB2, CASK, TSEN34, ZNF335, ARFGEF2, PCNT, TBC1D20, TUBGCP4, STAMBP , (...)

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Microcephaly Deletion/Duplication Panel.

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STIL, SLC1A4, SLC2A1, SLC9A6, SOX11, PLK4, CDKL5, TCF4, UBE3A, USP18, WWOX, RAB18, CRIPT, SLC25A19, ZEB2, NIN, PPP1R15B, CASK, TSEN34, ZNF335 , (...)

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CTNNB1. Complete sequencing.

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

CTNNB1
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100 %
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25 %
Colorectal cancer, somatic (sequence analysis of CTNNB1 gene).

By CGC Genetics (Portugal).

CTNNB1
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100 %
Genes
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Comprehensive Vitreoretinopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ATOH7, CAPN5, RCBTB1, ATP6V0A2, ZNF408, TSPAN12, VCAN, CTNNB1, ISPD, FZD4, KIF11, LRP5, NDP
Specificity
8 %
Genes
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Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Rare Disease Symptoms Checker

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