CYLD gene related symptoms and diseases

All the information presented here about the CYLD gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to CYLD gene

Symptoms // Phenotype	% Cases
Trichoepithelioma	Very Common - Between 80% and 100% cases
Papule	Common - Between 50% and 80% cases
Basal cell carcinoma	Common - Between 50% and 80% cases
Neoplasm	Common - Between 50% and 80% cases
Neoplasm of the skin	Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with CYLD gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Cylindroma
Not very common - Between 30% and 50% cases
Subcutaneous nodule
Telangiectasia of the skin
Carcinoma
Milia
Rarely - Less than 30% cases
Hamartoma
Adenoma sebaceum
Neurofibromas

And 2 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to CYLD gene

Here you will find a list of rare diseases related to the CYLD. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

FAMILIAL MULTIPLE TRICHOEPITHELIOMA

Alternate names

FAMILIAL MULTIPLE TRICHOEPITHELIOMA Is also known as mft2

Description

Multiple familial trichoepithelioma (MFT) is an autosomal dominant disorder of skin appendage tumors characterized by the appearance of trichoepitheliomas.See also MFT1 (OMIM ), which is caused by mutations in the CYLD gene (OMIM ) on chromosome 16q12-q13.

Most common symptoms of FAMILIAL MULTIPLE TRICHOEPITHELIOMA

Papule
Subcutaneous nodule
Basal cell carcinoma
Telangiectasia of the skin
Trichoepithelioma

More info about FAMILIAL MULTIPLE TRICHOEPITHELIOMA

SOURCES: OMIM ORPHANET

TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1

Alternate names

TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1 Is also known as mft1, epithelioma adenoides cysticum of brooke, eac, epithelioma, hereditary multiple benign cystic, brooke-fordyce trichoepitheliomas

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.

Most common symptoms of TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1

Neoplasm
Carcinoma
Papule
Neoplasm of the skin
Basal cell carcinoma

More info about TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1

SOURCES: OMIM

FAMILIAL CYLINDROMATOSIS

Alternate names

FAMILIAL CYLINDROMATOSIS Is also known as cylindromas, dermal eccrine, ancell-spiegler cylindromas, 'turban tumor' syndrome, turban tumor syndrome

Description

The disorders classically referred to as familial cylindromatosis, Brooke-Spiegler syndrome, and multiple familial trichoepithelioma were originally described as distinct clinical entities. Patients with BRSS develop multiple skin appendage tumors including cylindromas, trichoepitheliomas, and spiradenomas. Patients with familial cylindromatosis have only cylindromas, and those with MFT1 have only trichoepitheliomas. However, because these disorders show overlapping phenotypic features, 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 (Guggenheim and Schnyder, 1961; Welch et al., 1968; Gerretsen et al., 1995; Lee et al., 2005; Bowen et al., 2005; Young et al., 2006; Saggar et al., 2008).Van Balkom and Hennekam (1994), who preferred the designation 'dermal eccrine cylindromatosis' for familial cylindromatosis, provided a review. 'Eccrine' referred to histologic evidence that the tumors may originate from the eccrine sweat glands.Blake and Toro (2009) provided a detailed review of the spectrum of disorders associated with CYLD mutations.

Most common symptoms of FAMILIAL CYLINDROMATOSIS

Neoplasm
Subcutaneous nodule
Neoplasm of the skin
Milia
Neurofibromas

More info about FAMILIAL CYLINDROMATOSIS

SOURCES: MESH OMIM ORPHANET

BROOKE-SPIEGLER SYNDROME; BRSS

Alternate names

BROOKE-SPIEGLER SYNDROME; BRSS Is also known as spiegler-brooke syndrome, bss, sbs

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.

Most common symptoms of BROOKE-SPIEGLER SYNDROME; BRSS

Neoplasm
Carcinoma
Papule
Nevus
Neoplasm of the skin

More info about BROOKE-SPIEGLER SYNDROME; BRSS

SOURCES: OMIM ORPHANET

Search interest in CYLD

Potential gene panels for CYLD gene

CYLD Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the CYLD gene.

CYLD gene related symptoms and diseases

Top 5 symptoms and clinical features associated to CYLD gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Not very common - Between 30% and 50% cases

Rarely - Less than 30% cases

Rare diseases associated to CYLD gene

FAMILIAL MULTIPLE TRICHOEPITHELIOMA

Alternate names

Description

Most common symptoms of FAMILIAL MULTIPLE TRICHOEPITHELIOMA

TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1

Alternate names

Description

Most common symptoms of TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1

FAMILIAL CYLINDROMATOSIS

Alternate names

Description

Most common symptoms of FAMILIAL CYLINDROMATOSIS

BROOKE-SPIEGLER SYNDROME; BRSS

Alternate names

Description

Most common symptoms of BROOKE-SPIEGLER SYNDROME; BRSS

Search interest in CYLD

Potential gene panels for CYLD gene

CYLD Panel

Familial Cylindromatosis - CYLD Full Sequence Analysis Panel

Familial Cylindromatosis - CYLD Known Point Mutation Analysis Panel

CHOP Comprehensive Hereditary Cancer Panel Panel

Brooke-Spiegler syndrome (sequence analysis of CYLD gene) Panel

OncoRisk Plus (NGS panel for 89 genes) Panel

Familial multiple trichoepithelioma (sequence analysis of CYLD gene) Panel

Familial multiple trichoepithelioma (sequence analysis of CYLD gene) Panel

Hereditary Cancer Syndromes - panels Panel

Trichoepithelioma, multiple familial, type 1 Panel

Spiegler-Brooke syndrome Panel

Cylindromatosis, familial Panel

Disorders associated with malignancy Panel Panel

Familial Tumor Syndromes Panel Panel

Cancer Predisposition Panel

Brooke-Spiegler syndrome: CYLD gene sequence analysis Panel

Hereditary Cancer NGS Panel Panel

CYLD Panel

Comprehensive Cancer Panel Panel

Comprehensive Hereditary Cancer Panel Panel

NeoTYPE® Discovery Profile for Solid Tumors Panel

Caris MI TumorSeek 592-Gene NGS Panel Panel

FAMILIAL CYLINDROMATOSIS Panel

Providence Personalized Medicine Panel - Solid Tumor Panel

Brooke-Spiegler Syndrome, Sequencing CYLD Gene Panel

Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes Panel

Tempus xT assay Panel

Tempus xO assay Panel

CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel