Familial cylindromatosis

Familial cylindromatosis (OMIM: 132700), Brooke-Spiegler syndrome (BRSS) (OMIM: 605041), and multiple familial trichoepithelioma 1 (MFT1) (OMIM: 601606) were originally described as distinct clinical entities. Patients with BRSS develop multiple skin appendage neoplasms 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. All are caused by mutations in the CYLD gene.

Also Known As:

Ancell-Spiegler cylindromas; Brooke-Fordyce Trichoepitheliomas; Brooke-Spiegler syndrome; Cylindromas, Dermal Eccrine; Cylindromatosis, familial; Dermal Eccrine Cylindroma; Epithelioma adenoides cysticum of Brooke; Epithelioma, hereditary multiple benign cystic; Familial Trichoepithelioma; Hereditary Multiple Benign Cystic Epithelioma; Multiple Familial Trichoepithelioma; Spiegler-Brooke syndrome; Trichoepithelioma multiple familial; Trichoepithelioma, Multiple Familial, 1; Turban tumor syndrome; Turban tumors

Networked: 44 relevant articles (2 outcomes, 0 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Neoplasms (Cancer)
2.	Adenoid Cystic Carcinoma (Cylindroma)
3.	Familial cylindromatosis
4.	B-Cell Lymphoma (Lymphoma, B Cell)
5.	B-Cell Chronic Lymphocytic Leukemia (Chronic Lymphocytic Leukemia)

Experts

1.	Kazakov, Dmitry V: 3 articles (02/2016 - 08/2011)
2.	Vanecek, Tomas: 3 articles (02/2016 - 08/2011)
3.	Gao, Jinmin: 2 articles (08/2010 - 04/2008)
4.	Huo, Lihong: 2 articles (08/2010 - 04/2008)
5.	Li, Dengwen: 2 articles (08/2010 - 04/2008)
6.	Liu, Min: 2 articles (08/2010 - 04/2008)
7.	Sun, Xiaoou: 2 articles (08/2010 - 04/2008)
8.	Zhou, Jun: 2 articles (08/2010 - 04/2008)
9.	Mosialos, George: 2 articles (09/2005 - 08/2003)
10.	Botsali, Aysenur: 1 article (07/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Familial cylindromatosis:

1.	NF-kappa B (NF-kB)IBA 11/30/2007 - "TRIP also directly interacts with the familial cylindromatosis tumor suppressor gene (CYLD) and negatively regulates NF-kappaB activation in vitro. " 08/14/2003 - "We show that this effect can be relieved by aspirin derivatives that inhibit NF-kappaB activity, which suggests a therapeutic intervention strategy to restore growth control in patients suffering from familial cylindromatosis." 10/25/2003 - "These researchers found that the familial cylindromatosis tumour suppressor gene (CYLD), previously of unknown function, could enhance the activation of the transcription factor NF-kappaB, leading to increased resistance to apoptosis. " 01/01/2016 - "The cancer can be sporadic or emerge in the context of Brooke-Spiegler syndrome (BSS), an inheritable condition characterized by mutation of the gene CYLD, encoding a tumour suppressor protein that controls the activity of the transcription factor NF-kB. Sporadic cylindromas present histological features shared with adenoid cystic carcinoma (ACC), a head and neck cancer originating from salivary or other exocrine glands. " 08/14/2003 - "We report here that inhibition of one of these enzymes, the familial cylindromatosis tumour suppressor gene (CYLD), having no known function, enhances activation of the transcription factor NF-kappaB. "
2.	Salicylic Acid (2 Hydroxybenzoic Acid)FDA LinkGeneric 07/01/2006 - "An evaluation of the efficacy of topical application of salicylic acid for the treatment of familial cylindromatosis."
3.	Aspirin (Acetylsalicylic Acid)FDA LinkGeneric 08/14/2003 - "We show that this effect can be relieved by aspirin derivatives that inhibit NF-kappaB activity, which suggests a therapeutic intervention strategy to restore growth control in patients suffering from familial cylindromatosis."
4.	Deubiquitinating Enzyme CYLDIBA 03/01/2008 - "Here, we examined the potential role of the deubiquitinating enzyme CYLD (cylindromatosis), mutation of which has been reported to cause familial cylindromatosis. " 10/01/2007 - "A novel mutation of CYLD in a Chinese family with multiple familial trichoepithelioma and no CYLD protein expression in the tumour tissue." 08/14/2003 - "Familial cylindromatosis is caused by mutations in a gene encoding the CYLD protein of previously unknown function. " 04/01/2014 - "Multiple familial trichoepithelioma: report of a Chinese family not associated with a mutation in the CYLD gene and CYLD protein expression in the trichoepithelioma tumor tissue." 03/12/2010 - "Here, we identify the deubiquitinating enzyme CYLD, the familial cylindromatosis tumor suppressor gene, as a negative regulator of proximal events in Wnt/beta-catenin signaling. "
5.	Nonsense Codon (Nonsense Mutation)IBA 06/01/2020 - "A novel nonsense mutation of the CYLD gene in a Turkish family with multiple familial trichoepithelioma." 08/01/2011 - "Recurrent CYLD nonsense mutation associated with a severe, disfiguring phenotype in an African American family with multiple familial trichoepithelioma." 12/01/2006 - "Diverse phenotype of Brooke-Spiegler syndrome associated with a nonsense mutation in the CYLD tumor suppressor gene." 11/01/2004 - "Mild phenotype of familial cylindromatosis associated with an R758X nonsense mutation in the CYLD tumour suppressor gene." 02/09/2016 - "The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene."
6.	Proteins (Proteins, Gene)FDA Link 04/01/2010 - "Execution of cell death, but not induction of autophagy, was strictly dependent on expression of receptor-interacting protein (RIP-1) kinase and cylindromatosis (turban tumor syndrome) (CYLD), two key regulators of necroptosis. " 01/01/2019 - "Cylindromatosis tumor suppressor protein (CYLD) was initially identified as a tumor suppressor deubiquitylating protein in familial cylindromatosis patients. " 01/01/2016 - "The cancer can be sporadic or emerge in the context of Brooke-Spiegler syndrome (BSS), an inheritable condition characterized by mutation of the gene CYLD, encoding a tumour suppressor protein that controls the activity of the transcription factor NF-kB. Sporadic cylindromas present histological features shared with adenoid cystic carcinoma (ACC), a head and neck cancer originating from salivary or other exocrine glands. " 08/01/2010 - "The familial cylindromatosis tumour suppressor CYLD contains three cytoskeleton-associated protein glycine-rich (CAP-Gly) domains and a deubiquitinase domain. " 04/04/2008 - "The familial cylindromatosis tumor suppressor CYLD is known to contain three cytoskeleton-associated protein glycine-rich (CAP-Gly) domains, which exist in a number of microtubule-binding proteins and are responsible for their association with microtubules. "
7.	Deubiquitinating EnzymesIBA 11/01/2006 - "Cylindromatosis (CYLD) is a deubiquitinating enzyme that is altered in patients with familial cylindromatosis, a condition characterized by numerous benign adnexal tumors. " 01/01/2022 - "The lysine-63 deubiquitinase cylindromatosis (CYLD) is long recognized as a tumor suppressor in immunity and inflammation, and its loss-of-function mutations lead to familial cylindromatosis. " 01/01/2022 - "CYLD lysine 63 deubiquitinase (CYLD) cutaneous syndrome, also known as Brooke-Spiegler syndrome, is a genetic condition characterized by the growth of multiple benign adnexal skin tumours. " 12/01/2017 - "CYLD lysine 63 deubiquitinase (CYLD) was originally identified as a tumor suppressor that is mutated in familial cylindromatosis. " 08/01/2010 - "The familial cylindromatosis tumour suppressor CYLD contains three cytoskeleton-associated protein glycine-rich (CAP-Gly) domains and a deubiquitinase domain. "
8.	Imiquimod (Aldara)FDA LinkGeneric 07/01/2022 - "Laser-assisted delivery of imiquimod in Brooke-Spiegler syndrome." 01/01/2016 - "Multiple Familial Trichoepithelioma Successfully Treated With CO2 Laser and Imiquimod." 07/01/2011 - "Comparing ablative fractionated resurfacing, photodynamic therapy, and topical imiquimod in the treatment of trichoblastomas of Brooke-Spiegler Syndrome: a case study."
9.	Transcription Factors (Transcription Factor)IBA 10/25/2003 - "These researchers found that the familial cylindromatosis tumour suppressor gene (CYLD), previously of unknown function, could enhance the activation of the transcription factor NF-kappaB, leading to increased resistance to apoptosis. " 08/14/2003 - "We report here that inhibition of one of these enzymes, the familial cylindromatosis tumour suppressor gene (CYLD), having no known function, enhances activation of the transcription factor NF-kappaB. "
10.	Peptide Hydrolases (Proteases)FDA Link 07/01/2009 - "The seven missense mutations reported to date occur only within the ubiquitin (Ub)-specific protease (USP) domain of the CYLD protein and most are associated exclusively with multiple familial trichoepithelioma (MFT). " 01/01/2011 - "The cylindromatosis/turban tumor syndrome gene (CYLD) on chromosome 16 ranked highest, followed by acylaminoacyl-peptidase (APEH), dystroglycan (DAG1), macrophage-stimulating protein (MST1) and ubiquitin-specific peptidase 4 (USP4), all located on chromosome 3. For UC, 18 P/PI genes were retained (14 proteases and 4 protease inhibitors), with a considerably lower amount of accumulated evidence. "

Therapies and Procedures

1.	Gas Lasers 01/01/2011 - "[Carbon dioxide-laser treatment of trichoepitheliomas in Brooke-Spiegler syndrome]." 06/01/2007 - "Brooke-Spiegler syndrome - report of four families: treatment with CO2 laser." 09/01/2000 - "We report two patients with Brooke-Spiegler syndrome whose scalp cylindromas were treated with a high-energy continous wave CO2 laser after debulking with bipolar scissors in one of the patients. " 09/01/2000 - "Brooke-Spiegler syndrome: treatment of cylindromas with CO2 laser." 01/01/2016 - "Multiple Familial Trichoepithelioma Successfully Treated With CO2 Laser and Imiquimod."
2.	Therapeutics 01/01/1951 - "[Spiegler's turban tumors and their surgical therapy]." 01/01/2010 - "We describe the anatomy of the scalp, epidemiology of scalp tumors, theories of field cancerization and field therapy, photodynamic therapy, excisional surgical techniques and reconstruction, lymphoscintigraphy, chemoprevention, as well as details relating to atypical fibroxanthoma, Brooke-Spiegler syndrome, nevus sebaceus, cutaneous lymphoma, and metastatic disease. "
3.	Photochemotherapy (Photodynamic Therapy) 01/01/2010 - "We describe the anatomy of the scalp, epidemiology of scalp tumors, theories of field cancerization and field therapy, photodynamic therapy, excisional surgical techniques and reconstruction, lymphoscintigraphy, chemoprevention, as well as details relating to atypical fibroxanthoma, Brooke-Spiegler syndrome, nevus sebaceus, cutaneous lymphoma, and metastatic disease. " 07/01/2011 - "Comparing ablative fractionated resurfacing, photodynamic therapy, and topical imiquimod in the treatment of trichoblastomas of Brooke-Spiegler Syndrome: a case study."
4.	Lasers (Laser) 07/01/2022 - "Laser-assisted delivery of imiquimod in Brooke-Spiegler syndrome." 07/01/2020 - "Treatment of Brooke-Spiegler Syndrome Trichoepitheliomas with Erbium: Yttrium-Aluminum-Garnet Laser: A Case Report and Review of the Literature."
5.	Myocutaneous Flap 08/01/2019 - "A 70-year-old male, afflicted with familial cylindromatosis and treated by brachytherapy 18years ago, received a free latissimus dorsi myocutaneous flap in two-stage surgery, allowing 25×25cm pathological scalp exeresis. "