Trichoepithelioma, Multiple Familial, 1

Table of contents:

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

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.

Genes related to Trichoepithelioma, Multiple Familial, 1

CYLD

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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

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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 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 %
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 Panel complete gene list RUNX1, BLM, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SMARCB1, STK11, BUB1B, EPCAM, TP53, TSC1, TSC2, VHL, WRN, WT1, XPA, XPC, NSD1, SUFU, CDC73, DICER1, CDH1, CDK4, CDKN1C, CDKN2A, CEBPA, SBDS, BRIP1, FANCL, FANCM, SLX4, FANCI, CYLD, SDHAF2, TMEM127, PALB2, DDB2, FLCN, DIS3L2, CEP57, ERCC2, ERCC3, ERCC4, ERCC5, EXT1, EXT2, EZH2, AIP, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FH, GATA2, ALK, GPC3, APC, KIT, SMAD4, MAX, MEN1, MET, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NF2, ATM, PMS2, PHOX2B, PRF1, PRKAR1A, BAP1, PTCH1, PTEN, RAD51C, RAD51D, RB1, RECQL4, RET 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 %

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Sources and references

You can check the following sources for additional information.

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