BSS
MCID: BRK001
MIFTS: 54

Brooke-Spiegler Syndrome (BSS) malady

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Summaries for Brooke-Spiegler Syndrome

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21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 Wnt / Hedgehog / Notch and Basal cell carcinoma. The compounds reticulin and mucicarmine have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotypes are tumorigenesis and limbs/digits/tail.

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:47 605041

Aliases & Classifications for Brooke-Spiegler Syndrome

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8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 10DISEASES, 62UMLS, 9diseasecard, 20GeneTests, 22GTR
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Aliases & Descriptions:

brooke-spiegler syndrome 8 43 21 47 10 62
spiegler-brooke syndrome 9 43 20 22 21 47
ancell-spiegler cylindromas 43 62
brss 43 21
schilbach-rott syndrome ocular hypotelorism, submucosal cleft palate, and hypospadias 62
sbs 43
bss 21


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Disease Ontology8 DOID:0050693
OMIM47 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 90)
idRelated DiseaseScoreTop Affiliating Genes
1spiradenoma31.2CYLD
2basal cell carcinoma31.1PTCH1
3adenoma30.4TP53, KRT7, KRT8
4adenoid cystic carcinoma30.4KRT8, CYLD, VIM, KRT7
5breast cancer29.8KRT7, PTCH1, TP53, KRT8
6familial cylindromatosis10.7
7sick building syndrome10.5
8multiple familial trichoepithelioma10.5
9short bowel syndrome10.4
10bernard-soulier syndrome10.3
11syringoma10.3
12adenoiditis10.3
13psoriasis10.3
14malignant cylindroma10.3
15basal cell carcinoma, somatic10.3
16spina bifida10.3
17shaken baby syndrome10.2
18brown-sequard syndrome10.2
19asthma10.1
20pseudomyxoma peritonei10.1KRT7
21metanephric adenoma10.1KRT7
22choroid plexus papilloma10.1TP53
23adenomatoid tumor10.1VIM
24multiple familial trichoepithelioma 110.0
25schilbach-rott syndrome10.0
26endometrial carcinoma10.0KRT7, TP53
27bronchitis10.0
28endophthalmitis10.0
29pancreatic ductal carcinoma10.0KRT8, KRT7
30barrett's esophagus10.0KRT7, TP53
31cervical adenocarcinoma10.0KRT8, KRT7
32adenosquamous carcinoma10.0KRT8, KRT7
33gallbladder cancer10.0KRT7, KRT8
34neuroendocrine carcinoma10.0KRT8, KRT7
35xeroderma pigmentosum10.0TP53, PTCH1
36spindle cell sarcoma10.0KRT7, VIM
37secretory meningioma10.0KRT7, VIM
38meningioma10.0PTCH1, VIM
39sex cord-gonadal stromal tumor10.0VIM, KRT7
40thyroid cancer10.0TP53, PTCH1
41fibroma10.0VIM, PTCH1
42renal clear cell carcinoma10.0VIM, KRT7
43malignant mesothelioma10.0KRT7, VIM
44gastric adenocarcinoma10.0KRT7, KRT8
45liposarcoma10.0TP53, VIM
46familial adenomatous polyposis10.0PTCH1, TP53
47medulloblastoma10.0TP53, PTCH1
48benign mesothelioma10.0KRT7, VIM
49angiosarcoma10.0KRT8, VIM
50adenoameloblastoma10.0KRT7, PTCH1, 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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47OMIM
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Symptoms by clinical synopsis from OMIM:

605041

Clinical features from OMIM:

605041

Drugs & Therapeutics for Brooke-Spiegler Syndrome

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Brooke-Spiegler Syndrome

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Brooke-Spiegler Syndrome:

33
Skin

Animal Models for Brooke-Spiegler Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Brooke-Spiegler Syndrome:

37 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.8TP53, PTCH1, CYLD
2MP:00053718.5TP53, CYLD, PTCH1
3MP:00053818.4PTCH1, CYLD, KRT8, TP53
4MP:00053888.4PTCH1, TP53, VIM, CYLD
5MP:00053808.2TP53, VIM, PTCH1, KRT8
6MP:00053898.1KRT8, VIM, TP53, PTCH1
7MP:00053858.0VIM, TP53, PTCH1, KRT8
8MP:00053977.9KRT8, VIM, TP53, CYLD, PTCH1
9MP:00053877.9CYLD, PTCH1, TP53, VIM, KRT8
10MP:00053847.9CYLD, PTCH1, TP53, VIM, KRT7
11MP:00053787.8VIM, PTCH1, CYLD, KRT8, TP53
12MP:00107687.6KRT8, VIM, CYLD, TP53, PTCH1

Publications for Brooke-Spiegler Syndrome

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52PubMed
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Articles related to Brooke-Spiegler Syndrome:

(show top 50)    (show all 54)
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
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
17
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
18
New mutation in the CYLD gene within a family with Brooke-Spiegler syndrome. (20151946)
2010
19
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
20
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
21
Familial cylindromatosis and brooke-spiegler syndrome: a review of current therapeutic approaches and the surgical challenges posed by two affected families. (19397670)
2009
22
Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling. (19462465)
2009
23
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
24
Dermoscopy of Brooke-Spiegler syndrome. (19620580)
2009
25
Adenoid cystic carcinoma-like pattern in spiradenoma and spiradenocylindroma: a rare feature in sporadic neoplasms and those associated with Brooke-Spiegler syndrome. (19633533)
2009
26
Brooke-Spiegler syndrome with associated pegged teeth. (19090338)
2008
27
Brooke-Spiegler syndrome: report of a case of multiple cylindromas and trichoepitheliomas. (18718192)
2008
28
Brooke-Spiegler syndrome. (19171990)
2008
29
Cylindroma transforming into basal cell carcinoma in a patient with Brooke-Spiegler syndrome. (21886698)
2007
30
Diverse phenotype of Brooke-Spiegler syndrome associated with a nonsense mutation in the CYLD tumor suppressor gene. (17083363)
2006
31
A case of Brooke-Spiegler syndrome with a new mutation in the CYLD gene. (16634909)
2006
32
Brooke-Spiegler syndrome: treatment with laser ablation. (15953067)
2005
33
Psoriasis and Brooke-Spiegler syndrome with multiple malignancies. (15857473)
2005
34
Brooke-Spiegler syndrome: report of a case with combined lesions containing cylindromatous, spiradenomatous, trichoblastomatous, and sebaceous differentiation. (15677973)
2005
35
Brooke-Spiegler syndrome associated with cylindroma, trichoepithelioma, spiradenoma, and syringoma. (14739501)
2004
36
Case of the Brooke-Spiegler syndrome. (15527432)
2004
37
Case 3. Brooke-Spiegler syndrome. (15115535)
2004
38
Brooke-Spiegler syndrome with parotid gland involvement. (15246936)
2004
39
A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome. (14632188)
2003
40
Identification of a recurrent mutation in the CYLD gene in Brooke- Spiegler syndrome. (12950348)
2003
41
Brooke-Spiegler syndrome. (11730050)
2001
42
Ossified cylindroma in familial cylindromatosis (Brooke-Spiegler syndrome). (11493383)
2001
43
Brooke-Spiegler syndrome locus assigned to 16q12-q13. (10792569)
2000
44
Malignant cylindroma in Brooke-Spiegler syndrome. (11096200)
2000
45
Brooke-Spiegler syndrome: treatment of cylindromas with CO2 laser. (10971563)
2000
46
Brooke-Spiegler syndrome variant: segregation of tumor types with mixed differentiation in two generations. (9504671)
1998
47
A nevoid plaque with histological changes of trichoepithelioma and cylindroma in Brooke-Spiegler syndrome. An immunohistochemical study with cytokeratins. (8835176)
1995
48
Spiradenomas in Brooke-Spiegler syndrome. (7684205)
1993
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

Variations for Brooke-Spiegler Syndrome

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Brooke-Spiegler Syndrome:

64
id Symbol AA change Variation ID SNP ID
1CYLDp.Glu747GlyVAR_045967

Clinvar genetic disease variations for Brooke-Spiegler Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1CYLDNM_015247.2(CYLD): c.2240A> G (p.Glu747Gly)single nucleotide variantPathogenicrs121908389GRCh37Chr 16, 50825600: 50825600
2CYLDNM_015247.2(CYLD): c.2806C> T (p.Arg936Ter)single nucleotide variantPathogenicrs121908390GRCh37Chr 16, 50830354: 50830354

Expression for genes affiliated with Brooke-Spiegler Syndrome

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2BioGPS, 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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50PathCards, 5Cell Signaling Technology, 30KEGG, 38NCBI BioSystems Database, 60Thomson Reuters
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Pathways related to Brooke-Spiegler Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6CYLD, PTCH1
2
Show member pathways
9.2PTCH1, TP53
39.1KRT8, TP53
49.0VIM, TP53
58.8VIM, KRT8, KRT7
68.8KRT8, VIM, KRT7

Compounds for genes affiliated with Brooke-Spiegler Syndrome

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45Novoseek, 3BitterDB, 11DrugBank, 51PharmGKB, 24HMDB, 61Tocris Bioscience, 29IUPHAR
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Compounds related to Brooke-Spiegler Syndrome according to GeneCards/GeneDecks:

(show all 36)
idCompoundScoreTop Affiliating Genes
1reticulin459.7KRT7, VIM
2mucicarmine459.7KRT7, VIM
3n-acetylglucosamine459.6KRT8, KRT7
4aristolochic acid45 310.4TP53, VIM
5temozolomide45 1110.4TP53, VIM
6bromodeoxyuridine459.3VIM, KRT8
7n-(4-hydroxyphenyl)retinamide459.3TP53, VIM
8roscovitine459.3TP53, VIM
9vinblastine45 51 1111.3VIM, TP53
10b 723459.2VIM, KRT7, KRT8
11hematoxylin459.2KRT7, KRT8, VIM
12matrigel459.2VIM, KRT8, KRT7
13nocodazole45 1110.1TP53, VIM
14glycogen45 2410.1KRT7, KRT8, VIM
15iron45 2410.1KRT8, VIM, KRT7
16thymidylate459.0TP53, VIM
17testosterone45 61 24 1112.0VIM, KRT7, KRT8
18vincristine45 51 1110.9VIM, TP53
19adriamycin458.9KRT8, TP53, VIM
205-aza-2deoxycytidine458.9KRT7, TP53, VIM
21etoposide45 51 61 1111.9KRT8, VIM, TP53
22butyrate458.9VIM, KRT8, TP53
23tamoxifen45 51 29 1111.8VIM, KRT8, TP53
24paclitaxel45 51 1110.8TP53, VIM, KRT8
25doxorubicin45 51 1110.8TP53, KRT8, VIM
26actinomycin d458.8VIM, TP53, KRT8
27cycloheximide458.8VIM, KRT8, TP53
28cytarabine45 51 1110.7TP53, VIM
29oligonucleotide458.7TP53, KRT8, VIM
30arginine458.6KRT7, TP53, VIM
31retinoid458.4TP53, KRT7, KRT8, VIM
32progesterone45 29 61 24 1112.4TP53, VIM, KRT8, KRT7
33vegf458.4TP53, VIM, KRT8, KRT7
34estrogen458.3VIM, KRT7, KRT8, TP53
35retinoic acid45 249.3KRT7, KRT8, VIM, TP53
36paraffin457.9TP53, VIM, KRT8, PTCH1, KRT7

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
1midbodyGO:0304969.6PTCH1, CYLD
2keratin filamentGO:0450959.1KRT7, KRT8
3nuclear matrixGO:0163639.0KRT8, TP53
4intermediate filamentGO:0058828.8KRT7, KRT8, VIM

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

idNameGO IDScoreTop Affiliating Genes
1regulation of mitotic cell cycleGO:0073469.6PTCH1, CYLD
2viral processGO:0160327.7KRT7, KRT8, VIM, TP53

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

idNameGO IDScoreTop Affiliating Genes
1scaffold protein bindingGO:0971109.0KRT8, VIM
2protein bindingGO:0055157.1KRT7, KRT8, VIM, TP53, PTCH1, CYLD

Products for genes affiliated with Brooke-Spiegler Syndrome

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Sources for Brooke-Spiegler Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet