Brooke-spiegler Syndrome; Brss

Table of contents:

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

Description

Brooke-Spiegler syndrome is an autosomal dominant disorder classically characterized by the appearance of multiple skin appendage tumors such as cylindroma, trichoepithelioma, and spiradenoma. These tumors are typically located in the head and neck region, appear in early adulthood, and gradually increase in size and number throughout life (Scheinfeld et al., 2003).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 (Gerretsen et al., 1995; Lee et al., 2005; Bowen et al., 2005; Young et al., 2006; Saggar et al., 2008).Blake and Toro (2009) provided a review of Brooke-Spiegler syndrome and pathogenic mutations in the CYLD gene.

Genes related to Brooke-spiegler Syndrome; Brss

CYLD

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Brooke-spiegler Syndrome; Brss

Neoplasm
Carcinoma
Papule
Nevus
Neoplasm of the skin
Milia
Basal cell carcinoma
Palmar pits
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

Brooke-spiegler Syndrome; Brss Is also known as spiegler-brooke syndrome, bss, sbs.

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.

Brooke-spiegler Syndrome; Brss 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 %

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 ORPHANET Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPINOCEREBELLAR ATAXIA 6; SCA6 RADIN BLOOD GROUP ANTIGEN; RD INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP