Trichoepithelioma, Multiple Familial, 1

Description

Multiple familial trichoepithelioma, also called epithelioma adenoides cysticum (EAC), is an autosomal dominant dermatosis characterized by the presence of many skin tumors predominantly on the face. Since histologic examination shows dermal aggregates of basaloid cells with connection to or differentiation toward hair follicles, this disorder has been thought to represent a benign hamartoma of the pilosebaceous apparatus. Trichoepitheliomas can degenerate into basal cell carcinoma (Johnson and Bennett, 1993).Because BRSS, familial cylindromatosis, and MFT1 are allelic, and because different manifestations of each have been described within a single family, many consider these disorders to represent a phenotypic spectrum of a single disease entity (Lee et al., 2005; Bowen et al., 2005; Young et al., 2006; Saggar et al., 2008).Blake and Toro (2009) provided a detailed review of the spectrum of disorders associated with CYLD mutations.

Clinical Features

Phenotypes and symptoms related to Trichoepithelioma, Multiple Familial, 1

  • Neoplasm
  • Carcinoma
  • Papule
  • Neoplasm of the skin
  • Basal cell carcinoma
  • Hamartoma
  • Adenoma sebaceum
  • Trichoepithelioma
  • Cylindroma

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

Trichoepithelioma, Multiple Familial, 1 Is also known as mft1, epithelioma adenoides cysticum of brooke, eac, epithelioma, hereditary multiple benign cystic, brooke-fordyce trichoepitheliomas.

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.

Trichoepithelioma, Multiple Familial, 1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CYLD.

By Institute for Human Genetics University Clinic Freiburg (Germany).

CYLD
Specificity
100 %
Genes
100 %
Familial Cylindromatosis - CYLD Full Sequence Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

CYLD
Specificity
100 %
Genes
100 %
Familial Cylindromatosis - CYLD Known Point Mutation Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

CYLD
Specificity
100 %
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 %
Brooke-Spiegler syndrome (sequence analysis of CYLD gene).

By CGC Genetics (Portugal).

CYLD
Specificity
100 %
Genes
100 %
OncoRisk Plus (NGS panel for 89 genes).

By CGC Genetics (Portugal).

RUNX1, BLM, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SMARCB1, STK11, BUB1B, EPCAM, TP53, TSC1, TSC2, VHL, WRN, WT1, XPA, XPC , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
100 %
Familial multiple trichoepithelioma (sequence analysis of CYLD gene).

By CGC Genetics (Portugal).

CYLD
Specificity
100 %
Genes
100 %
Familial multiple trichoepithelioma (sequence analysis of CYLD gene).

By CGC Genetics (Portugal).

CYLD
Specificity
100 %
Genes
100 %

You can get up to 21 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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