MCID: BRK001
MIFTS: 49

Brooke-Spiegler Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Cancer diseases categories

Aliases & Classifications for Brooke-Spiegler Syndrome

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Sources:
49OMIM, 10Disease Ontology, 45NIH Rare Diseases, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 65UMLS, 67UniProtKB/Swiss-Prot, 11diseasecard, 22GeneTests, 24GTR, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Brooke-Spiegler Syndrome:

Name: Brooke-Spiegler Syndrome 49 10 45 23 12 51 65 67
Spiegler-Brooke Syndrome 49 11 45 22 23 24 67
Brss 45 23 67
Bss 22 23 67
 
Ancell-Spiegler Cylindromas 45 65
Sbs 45 67
Cyld Cutaneous Syndrome 51
Schilbach-Rott Syndrome 65


Classifications:



External Ids:

OMIM49 605041
Disease Ontology10 DOID:0050693
Orphanet51 79493
MESH via Orphanet37 C536611
UMLS via Orphanet66 C1857941
MedGen34 C1857941
MeSH36 D018280

Summaries for Brooke-Spiegler Syndrome

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NIH Rare Diseases:45 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 thoracic cancer and trichoepithelioma, multiple familial, 1, and has symptoms including autosomal dominant inheritance, milia and neoplasm. 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 Glucocorticoid receptor regulatory network. Affiliated tissues include skin, salivary gland and eye, and related mouse phenotypes are pigmentation and respiratory system.

Genetics Home Reference:23 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:49 Brooke-Spiegler syndrome is an autosomal dominant disorder classically characterized by the appearance of multiple skin... (605041) more...

UniProtKB/Swiss-Prot:67 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.

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 160)
idRelated DiseaseScoreTop Affiliating Genes
1thoracic cancer30.0KRT8, TP53
2trichoepithelioma, multiple familial, 129.2CYLD, KRT14, KRT8, PTCH1, TP53
3spiradenoma10.8
4multiple familial trichoepithelioma10.8
5basal cell carcinoma10.7
6sick building syndrome10.5
7malignant cylindroma10.5
8short bowel syndrome10.5
9camptocormism10.4
10basal cell carcinoma 110.4
11cylindromatosis, familial10.4
12neurofibromatosis, type 110.4
13adenoiditis10.4
14syringoma10.4
15neurofibromatosis10.4
16adenoma10.4
17psoriasis10.4
18hypotelorism cleft palate hypospadias10.4
19neural tube defects10.3
20intestinal disease10.3
21cataract10.3
22short syndrome10.2
23glucose intolerance10.2
24shaken baby syndrome10.2
25bernard-soulier syndrome, type c10.2
26bronchitis10.2
27brown-sequard syndrome10.2
28lens disease10.2
29asthma10.2
30adult syndrome10.2
31esophagus lymphoma10.1CYLD, TP53
32uterine benign neoplasm10.1CYLD, TP53
33pneumothorax, primary spontaneous10.1CYLD, PTCH1
34cerebellopontine angle tumor10.1PTCH1, TP53
35cerebral arterial disease10.1PTCH1, TP53
36galactosemia10.1
37peripheral vascular disease10.1
38atherosclerosis10.1
39liver disease10.1
40poland syndrome10.1
41arteriosclerosis10.1
42bronchial disease10.1
43gastrointestinal system cancer10.1
44cerebral creatine deficiency syndrome10.1PTCH1, TP53
45central nervous system fibrosarcoma10.1PTCH1, TP53
46upper respiratory tract disease10.1PTCH1, TP53
47metatypical basal cell carcinoma10.1KRT8, PTCH1
48inherited blood coagulation disease10.1PTCH1, TP53
49bone peripheral neuroepithelioma10.0KRT8, TP53
50breast carcinoma in situ10.0KRT8, TP53

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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Interventional clinical trials:

Search ClinicalTrials, 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 Syndrome22 CYLD
2 Spiegler-Brooke Syndrome24

Anatomical Context for Brooke-Spiegler Syndrome

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MalaCards organs/tissues related to Brooke-Spiegler Syndrome:

33
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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.1KRT14, PTCH1, TP53
2MP:00053888.3CYLD, KRT14, PTCH1, TP53
3MP:00107718.2CYLD, KRT14, PTCH1, TP53
4MP:00020068.2CYLD, KRT14, PTCH1, TP53
5MP:00053898.0KRT14, KRT8, PTCH1, TP53
6MP:00053817.9CYLD, KRT14, KRT8, PTCH1, TP53
7MP:00107687.7CYLD, KRT14, KRT8, PTCH1, TP53
8MP:00053787.7CYLD, KRT14, KRT8, PTCH1, TP53
9MP:00053877.4CYLD, KRT14, KRT8, PTCH1, TP53
10MP:00053977.2CYLD, KRT14, KRT8, PTCH1, TP53

Publications for Brooke-Spiegler Syndrome

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Articles related to Brooke-Spiegler Syndrome:

(show top 50)    (show all 67)
idTitleAuthorsYear
1
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
2
Brooke-Spiegler syndrome clinically misdiagnosed as neurofibromatosis type 1. (25502717)
2015
3
<i>CYLD</i> GeneticTesting for Brooke-Spiegler Syndrome, Familial Cylindromatosis and Multiple Familial Trichoepitheliomas. (25737804)
2015
4
Malignant cylindroma in a patient with Brooke-Spiegler syndrome. (26114054)
2015
5
A novel CYLD gene mutation and multiple basal cell carcinomas in a patient with Brooke-Spiegler syndrome. (25976026)
2015
6
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
7
Late-onset Brooke-Spiegler syndrome with family histories of various cancers. (24628357)
2014
8
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
9
Syndrome in question. Brooke-Spiegler syndrome. (24626672)
2014
10
Large Germline Deletions of the CYLD Gene in Patients With Brooke-Spiegler Syndrome and Multiple Familial Trichoepithelioma. (25347032)
2014
11
A novel CYLD germline mutation in Brooke-Spiegler syndrome. (25131725)
2014
12
Brooke-spiegler syndrome: a rare entity. (24587929)
2014
13
A new Cylindromatosis (CYLD) gene mutation in a case of Brooke-Spiegler syndrome masquerading as basal cell carcinoma of the eyelids. (22689134)
2013
14
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
15
Brooke-Spiegler syndrome associated with ulcerative rectosigmoiditis. (22735777)
2013
16
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
17
Brooke-Spiegler syndrome associated with cylindroma, trichoepithelioma and eccrine spiradenoma. (24261740)
2013
18
Brooke-Spiegler syndrome. (23286806)
2012
19
Radiofrequency ablation: a safe and economical modality in treatment of Brooke-Spiegler syndrome. (22948057)
2012
20
Basal cell carcinoma arising in association with trichoepithelioma in a case of Brooke-Spiegler syndrome with a novel genetic mutation in CYLD. (22882113)
2012
21
Brooke-Spiegler syndrome: report of two cases not associated with a mutation in the CYLD and PTCH tumor-suppressor genes. (22077640)
2012
22
Brooke-spiegler syndrome: a rare entity. (22628987)
2012
23
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
24
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
25
New mutation in the CYLD gene within a family with Brooke-Spiegler syndrome. (20151946)
2010
26
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
27
Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling. (19462465)
2009
28
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
29
Dermoscopy of Brooke-Spiegler syndrome. (19620580)
2009
30
Brooke-Spiegler syndrome with associated pegged teeth. (19090338)
2008
31
Brooke-Spiegler syndrome: report of a case of multiple cylindromas and trichoepitheliomas. (18718192)
2008
32
Brooke-Spiegler syndrome. (19171990)
2008
33
Cylindroma transforming into basal cell carcinoma in a patient with Brooke-Spiegler syndrome. (21886698)
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
Psoriasis and Brooke-Spiegler syndrome with multiple malignancies. (15857473)
2005
37
Brooke-Spiegler syndrome: report of a case with combined lesions containing cylindromatous, spiradenomatous, trichoblastomatous, and sebaceous differentiation. (15677973)
2005
38
Brooke-Spiegler syndrome associated with cylindroma, trichoepithelioma, spiradenoma, and syringoma. (14739501)
2004
39
Case of the Brooke-Spiegler syndrome. (15527432)
2004
40
Case 3. Brooke-Spiegler syndrome. (15115535)
2004
41
Brooke-Spiegler syndrome with parotid gland involvement. (15246936)
2004
42
A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome. (14632188)
2003
43
Identification of a recurrent mutation in the CYLD gene in Brooke- Spiegler syndrome. (12950348)
2003
44
Brooke-Spiegler syndrome. (11730050)
2001
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:

67
id Symbol AA change Variation ID SNP ID
1CYLDp.Glu747GlyVAR_045967

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:

7 (show top 50)    (show all 77)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
144310TP53skin,NS,carcinoma,basal cell carcinoma3
244925TP53skin,NS,carcinoma,basal cell carcinoma3
343842TP53skin,NS,carcinoma,basal cell carcinoma3
410660TP53skin,NS,carcinoma,basal cell carcinoma3
510704TP53skin,NS,carcinoma,basal cell carcinoma3
644167TP53skin,NS,carcinoma,basal cell carcinoma3
743665TP53skin,NS,carcinoma,basal cell carcinoma3
844071TP53skin,NS,carcinoma,basal cell carcinoma3
943702TP53skin,NS,carcinoma,basal cell carcinoma3
1010771TP53skin,NS,carcinoma,basal cell carcinoma3
1145015TP53skin,NS,carcinoma,basal cell carcinoma3
1245740TP53skin,NS,carcinoma,basal cell carcinoma3
1310648TP53skin,NS,carcinoma,basal cell carcinoma3
1444074TP53skin,NS,carcinoma,basal cell carcinoma3
1544096TP53skin,NS,carcinoma,basal cell carcinoma3
1644606TP53skin,NS,carcinoma,basal cell carcinoma3
1743608TP53skin,NS,carcinoma,basal cell carcinoma3
1843918TP53salivary gland,parotid,carcinoma,NS3
1943616TP53skin,NS,carcinoma,basal cell carcinoma3
2043700TP53skin,NS,carcinoma,basal cell carcinoma3
2143585TP53skin,NS,carcinoma,basal cell carcinoma3
2243592TP53skin,NS,carcinoma,basal cell carcinoma3
2343635TP53skin,NS,carcinoma,basal cell carcinoma3
2443577TP53skin,NS,carcinoma,basal cell carcinoma3
2510812TP53skin,NS,carcinoma,basal cell carcinoma3
2610656TP53skin,NS,carcinoma,basal cell carcinoma3
2744603TP53skin,NS,carcinoma,basal cell carcinoma3
2845420TP53skin,NS,carcinoma,basal cell carcinoma3
2944226TP53skin,NS,carcinoma,basal cell carcinoma3
3010768TP53skin,NS,carcinoma,basal cell carcinoma3
316932TP53skin,NS,carcinoma,basal cell carcinoma3
3245739TP53skin,NS,carcinoma,basal cell carcinoma3
3312013TP53salivary gland,parotid,carcinoma,NS3
3443582TP53skin,NS,carcinoma,basal cell carcinoma3
3510659TP53skin,NS,carcinoma,basal cell carcinoma3
3643584TP53skin,NS,carcinoma,basal cell carcinoma3
3743581TP53skin,NS,carcinoma,basal cell carcinoma3
3845423TP53skin,NS,carcinoma,basal cell carcinoma3
3944097TP53skin,NS,carcinoma,basal cell carcinoma3
4010988TP53skin,NS,carcinoma,basal cell carcinoma3
4144068TP53skin,NS,carcinoma,basal cell carcinoma3
426549TP53skin,NS,carcinoma,basal cell carcinoma3
4310749TP53skin,NS,carcinoma,basal cell carcinoma3
4445424TP53skin,NS,carcinoma,basal cell carcinoma3
4510662TP53skin,NS,carcinoma,basal cell carcinoma3
4610794TP53skin,NS,carcinoma,basal cell carcinoma3
4743837TP53skin,NS,carcinoma,basal cell carcinoma3
4810650TP53skin,NS,carcinoma,basal cell carcinoma3
4910867TP53skin,NS,carcinoma,basal cell carcinoma3
5024851PTCH1skin,NS,carcinoma,basal cell carcinoma3

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 pathways (with members indented)ScoreTop Affiliating Genes
19.3KRT8, TP53
29.1KRT14, 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
2intermediate filamentGO:00058829.4KRT14, KRT8
3keratin filamentGO:00450959.3KRT14, KRT8
4nuclear matrixGO:00163639.3KRT8, TP53
5cell peripheryGO:00719449.3KRT14, KRT8

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

idNameGO IDScoreTop Affiliating Genes
1necroptotic processGO:00702669.7CYLD, TP53
2embryonic organ developmentGO:00485689.7PTCH1, TP53
3regulation of mitotic cell cycleGO:00073469.5CYLD, PTCH1
4epidermis developmentGO:00085448.8KRT14, PTCH1

Sources for Brooke-Spiegler Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet