Brooke-spiegler Syndrome; Brss

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.

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.


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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
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 %

We have 21 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Search Engine

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