MCID: BRK001
MIFTS: 47

Brooke-Spiegler Syndrome malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Cancer diseases

Aliases & Classifications for Brooke-Spiegler Syndrome

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Aliases & Descriptions for Brooke-Spiegler Syndrome:

Name: Brooke-Spiegler Syndrome 50 11 46 23 24 13 52 68 66
Spiegler-Brooke Syndrome 50 46 24 68 25 12
Brss 46 24 68
Bss 23 24 68
Ancell-Spiegler Cylindromas 46 66
 
Sbs 46 68
Carcinoma, Skin Appendage 37
Eccrine Dermal Cylindroma 66
Cyld Cutaneous Syndrome 52
Schilbach-Rott Syndrome 66

Characteristics:

Orphanet epidemiological data:

52
brooke-spiegler syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult; Age of death: normal life expectancy

HPO:

62
brooke-spiegler syndrome:
Inheritance: autosomal dominant inheritance
Onset and clinical course: adult onset


Classifications:



External Ids:

OMIM50 605041
Disease Ontology11 DOID:0050693
Orphanet52 ORPHA79493
UMLS via Orphanet67 C1857941
MESH via Orphanet38 C536611
MedGen35 C1857941
MeSH37 D018280

Summaries for Brooke-Spiegler Syndrome

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NIH Rare Diseases:46 Brooke-spiegler syndrome is a condition characterized by multiple skin tumors that develop from structures associated with the skin, such as sweat glands and hair follicles. people with brooke-spiegler syndrome may develop several types of tumors, including growths called spiradenomas, trichoepitheliomas, and cylindromas. the tumors associated with brooke-spiegler syndrome are generally benign (noncancerous), but occasionally they may become malignant (cancerous). individuals with brooke-spiegler syndrome are also at increased risk of developing tumors in tissues in other areas, particularly benign or malignant tumors of the salivary or parotid glands and basal cell carcinomas. brooke-spiegler syndrome is caused by mutations in the cyld gene. susceptibility to brooke-spiegler syndrome has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell increases the risk of developing this condition. however, a second, non-inherited mutation is required for development of skin appendage tumors in this disorder. last updated: 2/18/2015

MalaCards based summary: Brooke-Spiegler Syndrome, also known as spiegler-brooke syndrome, is related to bernard-soulier syndrome, type c and multiple familial trichoepithelioma, and has symptoms including milia and neoplasm. An important gene associated with Brooke-Spiegler Syndrome is CYLD (CYLD Lysine 63 Deubiquitinase), and among its related pathways are Glucocorticoid receptor regulatory network and Signaling mediated by p38-alpha and p38-beta. Affiliated tissues include skin, salivary gland and eye, and related mouse phenotypes are pigmentation and integument.

UniProtKB/Swiss-Prot:68 Brooke-Spiegler syndrome: An autosomal dominant disorder 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.

Genetics Home Reference:24 Brooke-Spiegler syndrome is a condition involving multiple skin tumors that develop from structures associated with the skin (skin appendages), such as sweat glands and hair follicles. People with Brooke-Spiegler syndrome may develop several types of tumors, including growths called spiradenomas, trichoepitheliomas, and cylindromas. Spiradenomas develop in sweat glands. Trichoepitheliomas arise from hair follicles. The origin of cylindromas has been unclear; while previously thought to derive from sweat glands, they are now generally believed to begin in hair follicles. The tumors associated with Brooke-Spiegler syndrome are generally noncancerous (benign), but occasionally they may become cancerous (malignant). Affected individuals are also at increased risk of developing tumors in tissues other than skin appendages, particularly benign or malignant tumors of the salivary glands.

OMIM:50 Brooke-Spiegler syndrome is an autosomal dominant disorder classically characterized by the appearance of multiple skin... (605041) more...

Related Diseases for Brooke-Spiegler Syndrome

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Diseases related to Brooke-Spiegler Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 93)
idRelated DiseaseScoreTop Affiliating Genes
1bernard-soulier syndrome, type c11.2
2multiple familial trichoepithelioma11.1
3sebastian syndrome11.0
4barber-say syndrome10.9
5sick building syndrome10.8
6short bowel syndrome10.8
7basal cell carcinoma10.6
8spiradenoma10.6
9malignant cylindroma10.3
10basal cell carcinoma 110.3
11cylindromatosis, familial10.3
12camptocormism10.3
13neural tube defects10.3
14thyrotoxic periodic paralysis 210.2CYLD, PTCH1
15glomangioma10.2CYLD, TP53
16neurofibromatosis, type 110.2
17adenoiditis10.2
18lymphoma10.2
19syringoma10.2
20adenoma10.2
21neurofibromatosis10.2
22psoriasis10.2
23renal pelvis inverted papilloma10.1PTCH1, TP53
24vulvar benign neoplasm10.1PTCH1, TP53
25brainstem intraparenchymal clear cell meningioma10.1PTCH1, TP53
26brown-sequard syndrome10.1
27extrahepatic bile duct adenocarcinoma10.1KRT8, TP53
28pancreatic cancer10.1KRT8, TP53
29bronchitis10.1
30nerve fibre bundle defect10.1KRT8, TP53
31antidepressant or antipsychotic toxicity or dose selection10.1PTCH1, TP53
32retroperitoneal germ cell neoplasm10.0KRT8, TP53
33myoepithelial carcinoma10.0KRT8, TP53
34foramen magnum meningioma10.0PTCH1, TP53
35pleomorphic rhabdomyosarcoma10.0PTCH1, TP53
36benign intermediate mesothelioma10.0CYLD, KRT14
37connective tissue benign neoplasm10.0CYLD, KRT14
38papillary adenoma10.0CYLD, KRT14
39anal margin carcinoma9.9KRT14, PTCH1
40common cold9.9
41endophthalmitis9.9
42heavy chain disease9.9PTCH1, TP53
43metatypical basal cell carcinoma9.9KRT14, PTCH1
44oligoastrocytoma9.9KRT14, KRT8
45bladder clear cell adenocarcinoma9.9KRT14, KRT8
46asthma9.9
47shaken baby syndrome9.9
48male reproductive organ cancer9.9KRT14, KRT8
49prostatic acinar adenocarcinoma9.9KRT14, KRT8
50scrotal carcinoma9.9KRT14, KRT8

Graphical network of the top 20 diseases related to Brooke-Spiegler Syndrome:



Diseases related to brooke-spiegler syndrome

Symptoms for Brooke-Spiegler Syndrome

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Symptoms by clinical synopsis from OMIM:

605041

Clinical features from OMIM:

605041

HPO human phenotypes related to Brooke-Spiegler Syndrome:

id Description Frequency HPO Source Accession
1 milia HP:0001056
2 neoplasm HP:0002664

Drugs & Therapeutics for Brooke-Spiegler Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Brooke-Spiegler Syndrome


Cochrane evidence based reviews: carcinoma, skin appendage

Genetic Tests for Brooke-Spiegler Syndrome

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Genetic tests related to Brooke-Spiegler Syndrome:

id Genetic test Affiliating Genes
1 Spiegler-Brooke Syndrome25
2 Brooke-Spiegler Syndrome23 CYLD

Anatomical Context for Brooke-Spiegler Syndrome

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MalaCards organs/tissues related to Brooke-Spiegler Syndrome:

34
Skin, Salivary gland, Eye

Animal Models for Brooke-Spiegler Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Brooke-Spiegler Syndrome:

39 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.3KRT14, PTCH1, TP53
2MP:00107718.8CYLD, KRT14, PTCH1, TP53
3MP:00053888.6CYLD, KRT14, PTCH1, TP53
4MP:00020068.6CYLD, KRT14, PTCH1, TP53
5MP:00053898.3KRT14, KRT8, PTCH1, TP53
6MP:00053798.3CYLD, KRT14, PTCH1, TP53
7MP:00053877.9CYLD, KRT14, KRT8, PTCH1, TP53
8MP:00053977.8CYLD, KRT14, KRT8, PTCH1, TP53
9MP:00053817.6CYLD, KRT14, KRT8, PTCH1, TP53
10MP:00107687.5CYLD, KRT14, KRT8, PTCH1, TP53
11MP:00053767.5CYLD, KRT14, KRT8, PTCH1, TP53
12MP:00053787.2CYLD, KRT14, KRT8, PTCH1, TP53

Publications for Brooke-Spiegler Syndrome

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Articles related to Brooke-Spiegler Syndrome:

(show top 50)    (show all 72)
idTitleAuthorsYear
1
Brooke-Spiegler Syndrome and Phenotypic Variants: An Update. (26971504)
2016
2
Brooke-Spiegler syndrome presenting multiple concurrent cutaneous and parotid gland neoplasms: cytologic findings on fine-needle sample and description of a novel mutation of the CYLD gene. (25995191)
2015
3
Brooke-Spiegler syndrome clinically misdiagnosed as neurofibromatosis type 1. (25502717)
2015
4
Malignant cylindroma in a patient with Brooke-Spiegler syndrome. (26114054)
2015
5
Basal Cell Carcinoma in a Patient With Brooke-Spiegler Syndrome. (26861436)
2015
6
A novel CYLD gene mutation and multiple basal cell carcinomas in a patient with Brooke-Spiegler syndrome. (25976026)
2015
7
Report of Three Novel Germline CYLD Mutations in Unrelated Patients with Brooke-Spiegler Syndrome, Including Classic Phenotype, Multiple Familial Trichoepitheliomas and Malignant Transformation. (26329847)
2015
8
Syndrome in question. Brooke-Spiegler syndrome. (24626672)
2014
9
Large Germline Deletions of the CYLD Gene in Patients With Brooke-Spiegler Syndrome and Multiple Familial Trichoepithelioma. (25347032)
2014
10
Brooke-spiegler syndrome: a rare entity. (24587929)
2014
11
Late-onset Brooke-Spiegler syndrome with family histories of various cancers. (24628357)
2014
12
Novel and recurrent germline and somatic mutations in a cohort of 67 patients from 48 families with Brooke-Spiegler syndrome including the phenotypic variant of multiple familial trichoepitheliomas and correlation with the histopathologic findings in 379 biopsy specimens. (23249834)
2013
13
Brooke-Spiegler syndrome associated with ulcerative rectosigmoiditis. (22735777)
2013
14
A new Cylindromatosis (CYLD) gene mutation in a case of Brooke-Spiegler syndrome masquerading as basal cell carcinoma of the eyelids. (22689134)
2013
15
Basal cell carcinoma arising in association with trichoepithelioma in a case of Brooke-Spiegler syndrome with a novel genetic mutation in CYLD. (22882113)
2012
16
Brooke-spiegler syndrome: a rare entity. (22628987)
2012
17
A novel missense mutation of the CYLD gene identified in a Hungarian family with Brooke-Spiegler syndrome. (23171463)
2012
18
Brooke-Spiegler syndrome. (23286806)
2012
19
Radiofrequency ablation: a safe and economical modality in treatment of Brooke-Spiegler syndrome. (22948057)
2012
20
Brooke-Spiegler syndrome: report of two cases not associated with a mutation in the CYLD and PTCH tumor-suppressor genes. (22077640)
2012
21
Expression of p53 and TP53 mutational analysis in malignant neoplasms arising in preexisting spiradenoma, cylindroma, and spiradenocylindroma, sporadic or associated with Brooke-Spiegler syndrome. (20075707)
2010
22
New mutation in the CYLD gene within a family with Brooke-Spiegler syndrome. (20151946)
2010
23
Brooke-Spiegler syndrome: report of a case with a novel mutation in the CYLD gene and different types of somatic mutations in benign and malignant tumors. (20132422)
2010
24
A case of Brooke-Spiegler syndrome with a novel germline deep intronic mutation in the CYLD gene leading to intronic exonization, diverse somatic mutations, and unusual histology. (19668078)
2009
25
Morphologic diversity of malignant neoplasms arising in preexisting spiradenoma, cylindroma, and spiradenocylindroma based on the study of 24 cases, sporadic or occurring in the setting of Brooke-Spiegler syndrome. (19194280)
2009
26
Dermoscopy of Brooke-Spiegler syndrome. (19620580)
2009
27
Familial cylindromatosis and brooke-spiegler syndrome: a review of current therapeutic approaches and the surgical challenges posed by two affected families. (19397670)
2009
28
Brooke-Spiegler syndrome with associated pegged teeth. (19090338)
2008
29
Brooke-Spiegler syndrome: report of a case of multiple cylindromas and trichoepitheliomas. (18718192)
2008
30
Brooke-Spiegler syndrome complicated by unilateral hearing loss. (18986490)
2008
31
Brooke-Spiegler syndrome. (19171990)
2008
32
Brooke-Spiegler syndrome - report of four families: treatment with CO2 laser. (17550556)
2007
33
Brooke-Spiegler syndrome. (17511943)
2007
34
Diverse phenotype of Brooke-Spiegler syndrome associated with a nonsense mutation in the CYLD tumor suppressor gene. (17083363)
2006
35
Brooke-Spiegler syndrome: treatment with laser ablation. (15953067)
2005
36
Brooke-Spiegler syndrome: report of a case with combined lesions containing cylindromatous, spiradenomatous, trichoblastomatous, and sebaceous differentiation. (15677973)
2005
37
Psoriasis and Brooke-Spiegler syndrome with multiple malignancies. (15857473)
2005
38
Brooke-Spiegler syndrome associated with cylindroma, trichoepithelioma, spiradenoma, and syringoma. (14739501)
2004
39
Brooke-Spiegler syndrome with parotid gland involvement. (15246936)
2004
40
Case of the Brooke-Spiegler syndrome. (15527432)
2004
41
A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome. (14632188)
2003
42
Brooke-Spiegler syndrome. (11730050)
2001
43
Ossified cylindroma in familial cylindromatosis (Brooke-Spiegler syndrome). (11493383)
2001
44
Brooke-Spiegler syndrome: treatment of cylindromas with CO2 laser. (10971563)
2000
45
Brooke-Spiegler syndrome locus assigned to 16q12-q13. (10792569)
2000
46
Malignant cylindroma in Brooke-Spiegler syndrome. (11096200)
2000
47
Brooke-Spiegler syndrome variant: segregation of tumor types with mixed differentiation in two generations. (9504671)
1998
48
A nevoid plaque with histological changes of trichoepithelioma and cylindroma in Brooke-Spiegler syndrome. An immunohistochemical study with cytokeratins. (8835176)
1995
49
Spiradenomas in Brooke-Spiegler syndrome. (7684205)
1993
50
Multiple hereditary trichoepithelioma and cylindroma (Brooke-Spiegler syndrome). (1660416)
1991

Variations for Brooke-Spiegler Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Brooke-Spiegler Syndrome:

68
id Symbol AA change Variation ID SNP ID
1CYLDp.Glu747GlyVAR_045967rs121908389

Clinvar genetic disease variations for Brooke-Spiegler Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CYLDCYLD, 1-BP DEL, 2253GdeletionPathogenic
2CYLDCYLD, 1-BP DEL, 2172AdeletionPathogenic
3CYLDNM_015247.2(CYLD): c.2240A> G (p.Glu747Gly)single nucleotide variantPathogenicrs121908389GRCh37Chr 16, 50825600: 50825600
4CYLDNM_015247.2(CYLD): c.2806C> T (p.Arg936Ter)single nucleotide variantPathogenicrs121908390GRCh37Chr 16, 50830354: 50830354
5CYLDCYLD, 1-BP DUP, 1392TduplicationPathogenic

Cosmic variations for Brooke-Spiegler Syndrome:

8 (show top 50)    (show all 336)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1COSM43582TP53skin,NS,carcinoma,basal cell carcinomac.454C>Tp.P152S0
2COSM1659125BIRC6salivary gland,parotid,carcinoma,NSc.9339T>Cp.T3113T0
3COSM34221TIE1salivary gland,parotid,carcinoma,NSc.2050G>Cp.A684P0
4COSM17476PTCH1skin,NS,carcinoma,basal cell carcinomac.707G>Ap.W236*0
5COSM28055ALKsalivary gland,parotid,carcinoma,NSc.3522C>Ap.F1174L0
6COSM10646TP53salivary gland,parotid,carcinoma,NSc.725G>Ap.C242Y0
7COSM96958PTCH1skin,NS,carcinoma,basal cell carcinomac.1930C>Tp.P644S0
8COSM29054PTCH1skin,NS,carcinoma,basal cell carcinomac.387G>Ap.W129*0
9COSM11196TP53salivary gland,parotid,carcinoma,NSc.734G>Tp.G245V0
10COSM34219BRCA2salivary gland,parotid,carcinoma,NSc.559G>Ap.E187K0
11COSM1659055KNTC1salivary gland,parotid,carcinoma,NSc.3149C>Gp.S1050*0
12COSM17475PTCH1skin,NS,carcinoma,basal cell carcinomac.1292T>Ap.L431Q0
13COSM1659002ANKS4Bsalivary gland,parotid,carcinoma,NSc.313G>Tp.A105S0
14COSM10728TP53skin,NS,carcinoma,basal cell carcinomac.839G>Ap.R280K0
15COSM44241TP53skin,NS,carcinoma,basal cell carcinomac.592G>Tp.E198*0
16COSM11564TP53salivary gland,parotid,carcinoma,NSc.742C>Gp.R248G0
17COSM499HRASsalivary gland,parotid,carcinoma,NSc.182A>Gp.Q61R0
18COSM10768TP53skin,NS,carcinoma,basal cell carcinomac.535C>Tp.H179Y0
19COSM17467PTCH1skin,NS,carcinoma,basal cell carcinomac.1726C>Tp.Q576*0
20COSM17522PTCH1skin,NS,carcinoma,basal cell carcinomac.3586C>Tp.P1196S0
21COSM29033PTCH1skin,NS,carcinoma,basal cell carcinomac.2038G>Tp.E680*0
22COSM17483PTCH1skin,neck,carcinoma,basal cell carcinomac.1729-1G>Tp.?0
23COSM490HRASskin,NS,carcinoma,basal cell carcinomac.38G>Ap.G13D0
24COSM1716826STAT5Bskin,NS,carcinoma,basal cell carcinomac.1697G>Ap.R566Q0
25COSM10660TP53skin,NS,carcinoma,basal cell carcinomac.818G>Ap.R273H0
26COSM17519PTCH1skin,NS,carcinoma,basal cell carcinomac.463C>Tp.P155S0
27COSM10662TP53skin,NS,carcinoma,basal cell carcinomac.743G>Ap.R248Q0
28COSM33765AKT1salivary gland,parotid,carcinoma,NSc.49G>Ap.E17K0
29COSM17472PTCH1skin,NS,carcinoma,basal cell carcinomac.1249C>Tp.Q417*0
30COSM1658854CHN2salivary gland,parotid,carcinoma,NSc.523A>Cp.N175H0
31COSM516KRASskin,NS,carcinoma,basal cell carcinomac.34G>Tp.G12C0
32COSM10779TP53salivary gland,parotid,carcinoma,NSc.818G>Tp.R273L0
33COSM14464PTCH1skin,NS,carcinoma,basal cell carcinomac.1804C>Tp.R602*0
34COSM12597PIK3CAsalivary gland,parotid,carcinoma,NSc.3145G>Cp.G1049R0
35COSM44435TP53skin,NS,carcinoma,basal cell carcinomac.96+1G>Ap.?0
36COSM12296TP53skin,NS,carcinoma,basal cell carcinomac.292C>Tp.P98S0
37COSM29048PTCH1skin,NS,carcinoma,basal cell carcinomac.1347+1G>Ap.?0
38COSM43837TP53skin,NS,carcinoma,basal cell carcinomac.843C>Gp.D281E0
39COSM17592PTCH1skin,NS,carcinoma,basal cell carcinomac.3605C>Tp.P1202L0
40COSM17453PTCH1skin,NS,carcinoma,basal cell carcinomac.3196G>Tp.E1066*0
41COSM26363PTCH1skin,NS,carcinoma,basal cell carcinomac.2446C>Tp.Q816*0
42COSM10656TP53skin,NS,carcinoma,basal cell carcinomac.742C>Tp.R248W0
43COSM17490PTCH1skin,NS,carcinoma,basal cell carcinomac.3584C>Tp.T1195I0
44COSM26377PTCH1skin,NS,carcinoma,basal cell carcinomac.3449+1G>Ap.?0
45COSM3942015SMOskin,NS,carcinoma,basal cell carcinomac.961G>Ap.V321M0
46COSM11152TP53skin,NS,carcinoma,basal cell carcinomac.700T>Cp.Y234H0
47COSM763PIK3CAsalivary gland,parotid,carcinoma,NSc.1633G>Ap.E545K0
48COSM10794TP53skin,NS,carcinoma,basal cell carcinomac.796G>Ap.G266R0
49COSM564NRASskin,NS,carcinoma,basal cell carcinomac.35G>Ap.G12D0
50COSM17584PTCH1skin,NS,carcinoma,basal cell carcinomac.2105C>Tp.P702L0

Expression for genes affiliated with Brooke-Spiegler Syndrome

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Search GEO for disease gene expression data for Brooke-Spiegler Syndrome.

Pathways for genes affiliated with Brooke-Spiegler Syndrome

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Pathways related to Brooke-Spiegler Syndrome according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.3KRT14, TP53
29.1KRT8, TP53
3
Show member pathways
9.0KRT14, KRT8

GO Terms for genes affiliated with Brooke-Spiegler Syndrome

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Cellular components related to Brooke-Spiegler Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1midbodyGO:00304969.4CYLD, PTCH1
2keratin filamentGO:00450959.3KRT14, KRT8
3intermediate filamentGO:00058829.1KRT14, KRT8
4nuclear matrixGO:00163639.1KRT8, TP53
5cell peripheryGO:00719449.1KRT14, KRT8

Biological processes related to Brooke-Spiegler Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1regulation of mitotic cell cycleGO:00073469.5CYLD, PTCH1
2epidermis developmentGO:00085449.0KRT14, PTCH1

Sources for Brooke-Spiegler Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet