BSS
MCID: BRK001
MIFTS: 51

Brooke-Spiegler Syndrome (BSS) malady

Summaries for Brooke-Spiegler Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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: 7/12/2013

MalaCards: Brooke-Spiegler Syndrome, also known as spiegler-brooke syndrome, is related to spiradenoma and basal cell carcinoma. An important gene associated with Brooke-Spiegler Syndrome is CYLD (cylindromatosis (turban tumor syndrome)), and among its related pathways are Signaling mediated by p38-alpha and p38-beta and p53 pathway. The compounds reticulin and mucicarmine have been mentioned in the context of this disorder. Affiliated tissues include skin and salivary gland, and related mouse phenotypes are digestive/alimentary and respiratory system.

Genetics Home Reference:21 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.

Description from OMIM:46 605041

Aliases & Classifications for Brooke-Spiegler Syndrome

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8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 10DISEASES, 60UMLS, 9diseasecard, 20GeneTests, 22GTR
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Aliases & Descriptions:

brooke-spiegler syndrome 8 42 21 46 10 60
spiegler-brooke syndrome 9 42 20 22 21 46
ancell-spiegler cylindromas 42 60
brss 42 21
schilbach-rott syndrome ocular hypotelorism, submucosal cleft palate, and hypospadias 60
sbs 42
bss 21


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Disease Ontology8 DOID:0050693
OMIM46 605041

Related Diseases for Brooke-Spiegler Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Brooke-Spiegler Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 112)
idRelated DiseaseScoreTop Affiliating Genes
1spiradenoma31.0CYLD
2basal cell carcinoma30.9PTCH1
3adenoma30.4KRT8, KRT7, TP53
4adenoid cystic carcinoma30.4KRT8, KRT7, VIM, CYLD
5leukemia29.9TP53
6breast cancer29.9KRT7, TP53, PTCH1, KRT8
7blepharofacioskeletal syndrome10.7
8familial cylindromatosis10.5
9sick building syndrome10.5
10malignant spiradenoma10.4
11short bowel syndrome10.4
12bernard-soulier syndrome10.3
13syringoma10.3
14adenoiditis10.3
15psoriasis10.3
16basal cell carcinoma, somatic10.3
17spina bifida10.3
18brown-sequard syndrome10.1
19asthma10.1
20multiple familial trichoepithelioma 110.0
21schilbach-rott syndrome10.0
22bronchitis10.0
23endophthalmitis10.0
24craniopharyngioma10.0KRT8
25hemangioblastoma10.0KRT8
26liver cirrhosis10.0KRT8
27renal oncocytoma10.0KRT7
28hepatoblastoma10.0KRT7
29mixed cell type cancer10.0KRT7
30cystadenoma10.0KRT7
31nephroblastoma10.0TP53
32nevoid basal cell carcinoma syndrome10.0PTCH1
33teratoma10.0KRT7
34metanephric adenoma10.0KRT7
35ductal carcinoma in situ10.0TP53
36malignant fibroxanthoma10.0TP53
37choroid plexus papilloma10.0TP53
38pseudomyxoma peritonei10.0KRT7
39oxyphilic adenoma10.0KRT7
40papilloma10.0TP53
41sertoli-leydig cell tumor10.0KRT7
42benign mesothelioma10.0TP53
43pulmonary fibrosis10.0KRT8
44dysgerminoma10.0KRT7
45thymus cancer10.0KRT7
46angiomyolipoma10.0VIM
47actinic keratosis10.0TP53
48rhabdoid tumor10.0VIM
49ependymoma10.0VIM
50adenomatoid tumor10.0VIM

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



Diseases related to brooke-spiegler syndrome

Clinical Features for Brooke-Spiegler Syndrome

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46OMIM
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Clinical features from OMIM:

605041

Clinical synopsis from OMIM:

605041

Drugs & Therapeutics for Brooke-Spiegler Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Brooke-Spiegler Syndrome

Drug clinical trials:

Search ClinicalTrials for Brooke-Spiegler Syndrome

Search NIH Clinical Center for Brooke-Spiegler Syndrome

Search CenterWatch for Brooke-Spiegler Syndrome

Genetic Tests for Brooke-Spiegler Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Brooke-Spiegler Syndrome:

id Genetic test Affiliating Genes
1 Brooke-Spiegler Syndrome20 CYLD
2 Spiegler-Brooke Syndrome22

Anatomical Context for Brooke-Spiegler Syndrome

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32MalaCards
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MalaCards organs/tissues related to Brooke-Spiegler Syndrome:

32
Skin, Salivary gland

Animal Models for Brooke-Spiegler Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Brooke-Spiegler Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.4TP53, KRT8, CYLD, PTCH1
2MP:00053887.9CYLD, PTCH1, TP53, VIM
3MP:00053807.7VIM, TP53, PTCH1, KRT8, USP7
4MP:00053787.3TP53, VIM, USP7, CYLD, KRT8, PTCH1
5MP:00107687.2VIM, USP7, CYLD, KRT8, PTCH1, TP53

Publications for Brooke-Spiegler Syndrome

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50PubMed
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Articles related to Brooke-Spiegler Syndrome:

(show top 50)    (show all 55)
idTitleAuthorsYear
1
A new Cylindromatosis (CYLD) gene mutation in a case of Brooke-Spiegler syndrome masquerading as basal cell carcinoma of the eyelids. (22689134)
2013
2
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
3
Brooke-Spiegler syndrome associated with ulcerative rectosigmoiditis. (22735777)
2013
4
A clinicopathologic and molecular biologic study of patients presenting with few adnexal tumors (two to four) from the morphological spectrum of Brooke-Spiegler syndrome. (22588548)
2013
5
Brooke-Spiegler syndrome associated with cylindroma, trichoepithelioma and eccrine spiradenoma. (24261740)
2013
6
Atypical Adnexal Tumors Adjacent to Basal Cell Carcinoma: A Difficult Problem in Patients with Brooke-Spiegler Syndrome Undergoing Mohs Surgery. (24372646)
2013
7
A novel germline mutation in the CYLD gene in a Slovak patient with Brooke-Spiegler syndrome. (23641715)
2013
8
Brooke-Spiegler syndrome. (23286806)
2012
9
Radiofrequency ablation: a safe and economical modality in treatment of Brooke-Spiegler syndrome. (22948057)
2012
10
Basal cell carcinoma arising in association with trichoepithelioma in a case of Brooke-Spiegler syndrome with a novel genetic mutation in CYLD. (22882113)
2012
11
Brooke-Spiegler syndrome: report of two cases not associated with a mutation in the CYLD and PTCH tumor-suppressor genes. (22077640)
2012
12
Brooke-spiegler syndrome: a rare entity. (22628987)
2012
13
Brooke-spiegler syndrome with multiple scalp cylindromas and bilateral parotid gland adenomas. (22606564)
2012
14
A novel missense mutation of the CYLD gene identified in a Hungarian family with Brooke-Spiegler syndrome. (23171463)
2012
15
Comparing ablative fractionated resurfacing, photodynamic therapy, and topical imiquimod in the treatment of trichoblastomas of Brooke-Spiegler Syndrome: a case study. (21388481)
2011
16
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
17
New mutation in the CYLD gene within a family with Brooke-Spiegler syndrome. (20151946)
2010
18
Brooke-Spiegler syndrome: report of 10 patients from 8 families with novel germline mutations: evidence of diverse somatic mutations in the same patient regardless of tumor type. (20502185)
2010
19
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
20
Familial cylindromatosis and brooke-spiegler syndrome: a review of current therapeutic approaches and the surgical challenges posed by two affected families. (19397670)
2009
21
Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling. (19462465)
2009
22
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
23
Dermoscopy of Brooke-Spiegler syndrome. (19620580)
2009
24
Adenoid cystic carcinoma-like pattern in spiradenoma and spiradenocylindroma: a rare feature in sporadic neoplasms and those associated with Brooke-Spiegler syndrome. (19633533)
2009
25
Brooke-Spiegler syndrome with associated pegged teeth. (19090338)
2008
26
Brooke-Spiegler syndrome: report of a case of multiple cylindromas and trichoepitheliomas. (18718192)
2008
27
Brooke-Spiegler syndrome. (19171990)
2008
28
Brooke-Spiegler syndrome complicated by unilateral hearing loss. (18986490)
2008
29
Cylindroma transforming into basal cell carcinoma in a patient with Brooke-Spiegler syndrome. (21886698)
2007
30
Brooke-Spiegler syndrome. (17511943)
2007
31
Diverse phenotype of Brooke-Spiegler syndrome associated with a nonsense mutation in the CYLD tumor suppressor gene. (17083363)
2006
32
CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes. (16922728)
2006
33
A case of Brooke-Spiegler syndrome with a new mutation in the CYLD gene. (16634909)
2006
34
Brooke-Spiegler syndrome: treatment with laser ablation. (15953067)
2005
35
Psoriasis and Brooke-Spiegler syndrome with multiple malignancies. (15857473)
2005
36
Brooke-Spiegler syndrome: report of a case with combined lesions containing cylindromatous, spiradenomatous, trichoblastomatous, and sebaceous differentiation. (15677973)
2005
37
Brooke-Spiegler syndrome associated with cylindroma, trichoepithelioma, spiradenoma, and syringoma. (14739501)
2004
38
Case of the Brooke-Spiegler syndrome. (15527432)
2004
39
Case 3. Brooke-Spiegler syndrome. (15115535)
2004
40
Brooke-Spiegler syndrome with parotid gland involvement. (15246936)
2004
41
Identification of a recurrent mutation in the CYLD gene in Brooke- Spiegler syndrome. (12950348)
2003
42
Brooke-Spiegler syndrome. (11730050)
2001
43
Ossified cylindroma in familial cylindromatosis (Brooke-Spiegler syndrome). (11493383)
2001
44
Brooke-Spiegler syndrome locus assigned to 16q12-q13. (10792569)
2000
45
Malignant cylindroma in Brooke-Spiegler syndrome. (11096200)
2000
46
Brooke-Spiegler syndrome: treatment of cylindromas with CO2 laser. (10971563)
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
The clinicopathological features of familial cylindromas and trichoepitheliomas (Brooke-Spiegler syndrome): a report of two families. (1333921)
1992
50
Multiple hereditary trichoepithelioma and cylindroma (Brooke-Spiegler syndrome). (1660416)
1991

Genetic Variations for Brooke-Spiegler Syndrome

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Genetic disease variations for Brooke-Spiegler Syndrome:

62
id Symbol AA change Variation ID SNP ID
1CYLDp.Glu747GlyVAR_045967

Expression for genes affiliated with Brooke-Spiegler Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Brooke-Spiegler Syndrome

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

Pathways for genes affiliated with Brooke-Spiegler Syndrome

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37NCBI BioSystems Database, 4Cell Signaling Technology, 12EMD Millipore, 29KEGG
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Pathways related to Brooke-Spiegler Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.2KRT8, TP53
29.1USP7, TP53
38.9VIM, KRT7, KRT8
48.9VIM, KRT7, KRT8
58.5VIM, USP7, TP53

Compounds for genes affiliated with Brooke-Spiegler Syndrome

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44Novoseek, 49PharmGKB, 11DrugBank, 2BitterDB, 24HMDB, 59Tocris Bioscience, 28IUPHAR
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Compounds related to Brooke-Spiegler Syndrome according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
1reticulin449.6VIM, KRT7
2mucicarmine449.6KRT7, VIM
3paclitaxel44 49 1111.4TP53, KRT8
4aristolochic acid44 210.3TP53, VIM
5temozolomide44 1110.3TP53, VIM
6b 723449.3VIM, KRT7, KRT8
7hematoxylin449.3KRT8, KRT7, VIM
8matrigel449.2KRT8, KRT7, VIM
9glycogen44 2410.0KRT8, KRT7, VIM
10adriamycin449.0VIM, KRT8, TP53
11n-(4-hydroxyphenyl)retinamide448.9TP53, VIM
12iron44 249.9KRT8, KRT7, VIM
13etoposide44 49 59 1111.8VIM, KRT8, TP53
14tamoxifen44 49 28 1111.8TP53, KRT8, VIM
155-aza-2deoxycytidine448.8TP53, KRT7, VIM
16doxorubicin44 49 1110.7TP53, KRT8, VIM
17roscovitine448.7TP53, VIM
18actinomycin d448.6VIM, KRT8, TP53
19retinoid448.4VIM, KRT7, KRT8, TP53
20progesterone44 59 28 11 2412.4TP53, KRT8, KRT7, VIM
21vegf448.4VIM, KRT7, KRT8, TP53
22retinoic acid44 249.2VIM, KRT7, KRT8, TP53
23paraffin448.0TP53, PTCH1, KRT8, KRT7, VIM

GO Terms for genes affiliated with Brooke-Spiegler Syndrome

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16Gene Ontology
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Cellular components related to Brooke-Spiegler Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:0058828.9KRT8, KRT7, VIM

Biological processes related to Brooke-Spiegler Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of NF-kappaB transcription factor activityGO:0320889.6CYLD, USP7
2regulation of mitotic cell cycleGO:0073469.3PTCH1, CYLD
3modulation by virus of host morphology or physiologyGO:0190487.5TP53, KRT8, KRT7, USP7, VIM

Molecular functions related to Brooke-Spiegler Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ubiquitin-specific protease activityGO:0048439.6USP7, CYLD
2scaffold protein bindingGO:0971109.3KRT8, VIM
3p53 bindingGO:0020398.8USP7, TP53
4protein bindingGO:0055156.7KRT8, VIM, USP7, TP53, PTCH1, CYLD

Products for genes affiliated with Brooke-Spiegler Syndrome

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Sources for Brooke-Spiegler Syndrome

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3CDC
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24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
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40NDF-RT
43NINDS
44Novoseek
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