BSS
MCID: BRK001
MIFTS: 56

Brooke-Spiegler Syndrome (BSS) malady

Genetic diseases, Rare diseases categories
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Summaries for Brooke-Spiegler Syndrome

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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 based summary: Brooke-Spiegler Syndrome, also known as spiegler-brooke syndrome, is related to spiradenoma and basal cell carcinoma, and has symptoms including 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 salivary gland, 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:46 605041

Aliases & Classifications for Brooke-Spiegler Syndrome

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Brooke-Spiegler Syndrome, Aliases & Descriptions:

Name: Brooke-Spiegler Syndrome 8 42 21 46 10 62
Spiegler-Brooke Syndrome 9 42 20 22 21 46
Ancell-Spiegler Cylindromas 42 62
Brss 42 21
 
Schilbach-Rott Syndrome Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias 62
Sbs 42
Bss 21


Classifications:

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


External Ids:

Disease Ontology8 DOID:0050693
OMIM46 605041

Related Diseases for Brooke-Spiegler Syndrome

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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 91)
idRelated DiseaseScoreTop Affiliating Genes
1spiradenoma31.8CYLD
2basal cell carcinoma31.6PTCH1
3adenoma30.3TP53, KRT7, KRT8
4breast cancer29.5KRT7, PTCH1, TP53, KRT8
5familial cylindromatosis10.7
6multiple familial trichoepithelioma10.6
7sick building syndrome10.6
8pseudomyxoma peritonei10.5KRT7
9metanephric adenoma10.5KRT7
10short bowel syndrome10.4
11choroid plexus papilloma10.4TP53
12bernard-soulier syndrome10.3
13syringoma10.3
14adenoiditis10.3
15psoriasis10.3
16malignant cylindroma10.3
17basal cell carcinoma, somatic10.3
18spina bifida10.3
19adenomatoid tumor10.3VIM
20shaken baby syndrome10.2
21schilbach-rott syndrome10.2
22brown-sequard syndrome10.2
23bronchitis10.2
24endometrial carcinoma10.2KRT7, TP53
25pancreatic ductal carcinoma10.2KRT8, KRT7
26barrett's esophagus10.2KRT7, TP53
27cervical adenocarcinoma10.2KRT8, KRT7
28adenosquamous carcinoma10.2KRT8, KRT7
29gallbladder cancer10.2KRT7, KRT8
30neuroendocrine carcinoma10.1KRT8, KRT7
31asthma10.1
32breast ductal carcinoma10.1TP53, KRT8
33xeroderma pigmentosum10.1TP53, PTCH1
34spindle cell sarcoma10.1KRT7, VIM
35secretory meningioma10.1KRT7, VIM
36sex cord-gonadal stromal tumor10.1VIM, KRT7
37meningioma10.1PTCH1, VIM
38thyroid hurthle cell carcinoma10.1TP53, PTCH1
39multiple familial trichoepithelioma 110.1
40fibroma10.1VIM, PTCH1
41common cold10.0
42endophthalmitis10.0
43renal clear cell carcinoma10.0VIM, KRT7
44gastric adenocarcinoma10.0KRT7, KRT8
45liposarcoma10.0TP53, VIM
46familial adenomatous polyposis10.0PTCH1, TP53
47medulloblastoma10.0TP53, PTCH1
48malignant mesothelioma10.0KRT7, VIM
49angiosarcoma10.0KRT8, VIM
50acute lymphocytic leukemia10.0

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 autosomal dominant inheritance HP:0000006
2 milia HP:0001056
3 neoplasm HP:0002664
4 adult onset HP:0003581

Drugs & Therapeutics for Brooke-Spiegler Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Brooke-Spiegler Syndrome

Genetic Tests for Brooke-Spiegler Syndrome

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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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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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MGI Mouse Phenotypes related to Brooke-Spiegler Syndrome:

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

Publications for Brooke-Spiegler Syndrome

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Articles related to Brooke-Spiegler Syndrome:

(show top 50)    (show all 60)
idTitleAuthorsYear
1
Late-onset Brooke-Spiegler syndrome with family histories of various cancers. (24628357)
2014
2
Brooke-Spiegler syndrome tumor spectrum beyond the skin: a patient carrying germline R936X CYLD mutation and a somatic CYLD mutation in Brenner tumor. (24559443)
2014
3
Syndrome in question. Brooke-Spiegler syndrome. (24626672)
2014
4
Large Germline Deletions of the CYLD Gene in Patients With Brooke-Spiegler Syndrome and Multiple Familial Trichoepithelioma. (25347032)
2014
5
A novel CYLD germline mutation in Brooke-Spiegler syndrome. (25131725)
2014
6
Brooke-spiegler syndrome: a rare entity. (24587929)
2014
7
A new Cylindromatosis (CYLD) gene mutation in a case of Brooke-Spiegler syndrome masquerading as basal cell carcinoma of the eyelids. (22689134)
2013
8
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
9
Brooke-Spiegler syndrome associated with ulcerative rectosigmoiditis. (22735777)
2013
10
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
11
Brooke-Spiegler syndrome associated with cylindroma, trichoepithelioma and eccrine spiradenoma. (24261740)
2013
12
Brooke-Spiegler syndrome. (23286806)
2012
13
Radiofrequency ablation: a safe and economical modality in treatment of Brooke-Spiegler syndrome. (22948057)
2012
14
Basal cell carcinoma arising in association with trichoepithelioma in a case of Brooke-Spiegler syndrome with a novel genetic mutation in CYLD. (22882113)
2012
15
Brooke-Spiegler syndrome: report of two cases not associated with a mutation in the CYLD and PTCH tumor-suppressor genes. (22077640)
2012
16
Brooke-spiegler syndrome: a rare entity. (22628987)
2012
17
Brooke-spiegler syndrome with multiple scalp cylindromas and bilateral parotid gland adenomas. (22606564)
2012
18
Comparing ablative fractionated resurfacing, photodynamic therapy, and topical imiquimod in the treatment of trichoblastomas of Brooke-Spiegler Syndrome: a case study. (21388481)
2011
19
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
20
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
21
New mutation in the CYLD gene within a family with Brooke-Spiegler syndrome. (20151946)
2010
22
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
23
Familial cylindromatosis and brooke-spiegler syndrome: a review of current therapeutic approaches and the surgical challenges posed by two affected families. (19397670)
2009
24
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
25
Dermoscopy of Brooke-Spiegler syndrome. (19620580)
2009
26
Adenoid cystic carcinoma-like pattern in spiradenoma and spiradenocylindroma: a rare feature in sporadic neoplasms and those associated with Brooke-Spiegler syndrome. (19633533)
2009
27
Brooke-Spiegler syndrome with associated pegged teeth. (19090338)
2008
28
Brooke-Spiegler syndrome: report of a case of multiple cylindromas and trichoepitheliomas. (18718192)
2008
29
Brooke-Spiegler syndrome. (19171990)
2008
30
Cylindroma transforming into basal cell carcinoma in a patient with Brooke-Spiegler syndrome. (21886698)
2007
31
Diverse phenotype of Brooke-Spiegler syndrome associated with a nonsense mutation in the CYLD tumor suppressor gene. (17083363)
2006
32
A case of Brooke-Spiegler syndrome with a new mutation in the CYLD gene. (16634909)
2006
33
Brooke-Spiegler syndrome: treatment with laser ablation. (15953067)
2005
34
Psoriasis and Brooke-Spiegler syndrome with multiple malignancies. (15857473)
2005
35
Brooke-Spiegler syndrome: report of a case with combined lesions containing cylindromatous, spiradenomatous, trichoblastomatous, and sebaceous differentiation. (15677973)
2005
36
Brooke-Spiegler syndrome associated with cylindroma, trichoepithelioma, spiradenoma, and syringoma. (14739501)
2004
37
Case of the Brooke-Spiegler syndrome. (15527432)
2004
38
Case 3. Brooke-Spiegler syndrome. (15115535)
2004
39
Brooke-Spiegler syndrome with parotid gland involvement. (15246936)
2004
40
A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome. (14632188)
2003
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
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:

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

Clinvar genetic disease variations for Brooke-Spiegler Syndrome:

6
id Gene Name 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

Expression for genes affiliated with Brooke-Spiegler Syndrome

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Expression patterns in normal tissues for genes affiliated with Brooke-Spiegler Syndrome

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Pathways for genes affiliated with Brooke-Spiegler Syndrome

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Pathways related to Brooke-Spiegler Syndrome according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Brooke-Spiegler Syndrome

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Compounds related to Brooke-Spiegler Syndrome according to GeneCards/GeneDecks:

(show all 36)
idCompoundScoreTop Affiliating Genes
1reticulin449.7KRT7, VIM
2mucicarmine449.7KRT7, VIM
3n-acetylglucosamine449.6KRT8, KRT7
4aristolochic acid44 210.4TP53, VIM
5temozolomide44 1110.4VIM, TP53
6bromodeoxyuridine449.3KRT8, VIM
7n-(4-hydroxyphenyl)retinamide449.3VIM, TP53
8roscovitine449.3VIM, TP53
9vinblastine44 50 1111.3VIM, TP53
10b 723449.2VIM, KRT8, KRT7
11hematoxylin449.2VIM, KRT8, KRT7
12matrigel449.2KRT7, KRT8, VIM
13nocodazole44 1110.1TP53, VIM
14glycogen44 2410.1VIM, KRT8, KRT7
15iron44 2410.1VIM, KRT8, KRT7
16thymidylate449.0VIM, TP53
17testosterone44 61 24 1112.0KRT7, KRT8, VIM
18vincristine44 50 1110.9TP53, VIM
19adriamycin448.9TP53, VIM, KRT8
205-aza-2deoxycytidine448.9KRT7, VIM, TP53
21etoposide44 50 61 1111.9KRT8, VIM, TP53
22butyrate448.9TP53, VIM, KRT8
23tamoxifen44 50 28 1111.8KRT8, VIM, TP53
24paclitaxel44 50 1110.8TP53, VIM, KRT8
25doxorubicin44 50 1110.8KRT8, VIM, TP53
26actinomycin d448.8KRT8, VIM, TP53
27cycloheximide448.8TP53, VIM, KRT8
28cytarabine44 50 1110.7VIM, TP53
29oligonucleotide448.7KRT8, VIM, TP53
30arginine448.6KRT7, VIM, TP53
31retinoid448.4KRT7, KRT8, VIM, TP53
32progesterone44 28 61 24 1112.4KRT7, KRT8, VIM, TP53
33vegf448.4TP53, VIM, KRT8, KRT7
34estrogen448.3TP53, VIM, KRT8, KRT7
35retinoic acid44 249.3TP53, VIM, KRT8, KRT7
36paraffin447.9KRT7, KRT8, VIM, TP53, PTCH1

GO Terms for genes affiliated with Brooke-Spiegler Syndrome

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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet