MCID: BRK001
MIFTS: 50

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

Characteristics:

HPO:

61
brooke-spiegler syndrome:
Onset and clinical course: adult onset
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 605041
Disease Ontology10 DOID:0050693
Orphanet51 79493
UMLS via Orphanet66 C1857941
MESH via Orphanet37 C536611
MedGen34 C1857941
MeSH36 D018280
UMLS65 C1857941, C1305968, C1851526 C1834038, more

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 bernard-soulier syndrome, type c and multiple familial trichoepithelioma, and has symptoms including neoplasmand milia. An important gene associated with Brooke-Spiegler Syndrome is CYLD (CYLD Lysine 63 Deubiquitinase), and among its related pathways are Osteoclast differentiation and Canonical NF-kappaB pathway. Affiliated tissues include skin, salivary gland and eye, and related mouse phenotypes are pigmentation and endocrine/exocrine gland.

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 65)
idRelated DiseaseScoreTop Affiliating Genes
1bernard-soulier syndrome, type c11.1
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
14neurofibromatosis, type 110.2
15adenoiditis10.2
16lymphoma10.2
17syringoma10.2
18adenoma10.2
19neurofibromatosis10.2
20psoriasis10.2
21skin glomangioma10.1CYLD, TP53
22pneumothorax, primary spontaneous10.1CYLD, PTCH1
23brown-sequard syndrome10.1
24syringocystadenoma papilliferum10.1CYLD, TP53
25bronchitis10.1
26calloso-genital dysplasia10.1PTCH1, TP53
27brain glioma10.0PTCH1, TP53
28childhood infratentorial neoplasm10.0PTCH1, TP53
29lateral ventricle meningioma10.0PTCH1, TP53
30adenoid squamous cell carcinoma10.0PTCH1, TP53
31autosomal dominant complex spastic paraplegia type 9a10.0PTCH1, TP53
32cervical incompetence10.0PTCH1, TP53
33lipoma of the rectum10.0PTCH1, TP53
34cervicomedullary junction neoplasm9.9PTCH1, TP53
35common cold9.9
36endophthalmitis9.9
37connective tissue benign neoplasm9.9PTCH1, TP53
38asthma9.9
39shaken baby syndrome9.9
40bone ameloblastoma9.9PTCH1, TP53
41embryonal carcinoma9.9PTCH1, TP53
42germ cell and embryonal cancer9.8PTCH1, TP53
43qazi markouizos syndrome9.8PTCH1, TP53
44atopy9.8
45breast cancer9.8
46acute lymphocytic leukemia9.8
47brain injury9.8
48leukemia9.8
49traumatic brain injury9.8
50chronic venous insufficiency9.8

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 neoplasm HP:0002664
2 milia HP:0001056

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

Anatomical Context for Brooke-Spiegler Syndrome

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MalaCards organs/tissues related to Brooke-Spiegler Syndrome:

33
Skin, Salivary gland, Eye, Endothelial, Lung, Prostate, Myeloid

Animal Models for Brooke-Spiegler Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Brooke-Spiegler Syndrome:

38 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.3IKBKG, PTCH1, TP53
2MP:00053798.8CYLD, IKBKG, PTCH1, TP53
3MP:00020068.8CYLD, IKBKG, PTCH1, TP53
4MP:00028738.8CYLD, IKBKG, PTCH1, TP53
5MP:00107718.8CYLD, IKBKG, PTCH1, TP53
6MP:00053818.7CYLD, IKBKG, PTCH1, TP53
7MP:00053867.9CYLD, IKBKG, PTCH1, TP53, USP7
8MP:00107687.8CYLD, IKBKG, PTCH1, TP53, USP7
9MP:00053787.8CYLD, IKBKG, PTCH1, TP53, USP7

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
<i>CYLD</i> GeneticTesting for Brooke-Spiegler Syndrome, Familial Cylindromatosis and Multiple Familial Trichoepitheliomas. (25737804)
2015
5
Malignant cylindroma in a patient with Brooke-Spiegler syndrome. (26114054)
2015
6
Basal Cell Carcinoma in a Patient With Brooke-Spiegler Syndrome. (26861436)
2015
7
A novel CYLD gene mutation and multiple basal cell carcinomas in a patient with Brooke-Spiegler syndrome. (25976026)
2015
8
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
9
Late-onset Brooke-Spiegler syndrome with family histories of various cancers. (24628357)
2014
10
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
11
Syndrome in question. Brooke-Spiegler syndrome. (24626672)
2014
12
Large Germline Deletions of the CYLD Gene in Patients With Brooke-Spiegler Syndrome and Multiple Familial Trichoepithelioma. (25347032)
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. (23286806)
2012
18
Radiofrequency ablation: a safe and economical modality in treatment of Brooke-Spiegler syndrome. (22948057)
2012
19
Basal cell carcinoma arising in association with trichoepithelioma in a case of Brooke-Spiegler syndrome with a novel genetic mutation in CYLD. (22882113)
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
Brooke-spiegler syndrome: a rare entity. (22628987)
2012
22
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
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
New mutation in the CYLD gene within a family with Brooke-Spiegler syndrome. (20151946)
2010
25
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
26
Familial cylindromatosis and brooke-spiegler syndrome: a review of current therapeutic approaches and the surgical challenges posed by two affected families. (19397670)
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 318)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
1COSM516KRASskin,neck,carcinoma,basal cell carcinoma8
2COSM14452PTCH1skin,neck,carcinoma,basal cell carcinoma8
3COSM17468PTCH1skin,neck,carcinoma,basal cell carcinoma8
4COSM17483PTCH1skin,neck,carcinoma,basal cell carcinoma8
5COSM29053PTCH1skin,neck,carcinoma,basal cell carcinoma8
6COSM29072PTCH1skin,neck,carcinoma,basal cell carcinoma8
7COSM498HRASskin,neck,carcinoma,NS7
8COSM486HRASskin,NS,carcinoma,basal cell carcinoma6
9COSM490HRASskin,NS,carcinoma,basal cell carcinoma6
10COSM520KRASskin,NS,carcinoma,basal cell carcinoma6
11COSM521KRASskin,NS,carcinoma,basal cell carcinoma6
12COSM564NRASskin,NS,carcinoma,basal cell carcinoma6
13COSM763PIK3CAskin,NS,carcinoma,basal cell carcinoma6
14COSM5662CTNNB1skin,NS,carcinoma,basal cell carcinoma6
15COSM6549TP53skin,NS,carcinoma,basal cell carcinoma6
16COSM6932TP53skin,NS,carcinoma,basal cell carcinoma6
17COSM10648TP53skin,NS,carcinoma,basal cell carcinoma6
18COSM10654TP53skin,NS,carcinoma,basal cell carcinoma6
19COSM10656TP53skin,NS,carcinoma,basal cell carcinoma6
20COSM10659TP53skin,NS,carcinoma,basal cell carcinoma6
21COSM10660TP53skin,NS,carcinoma,basal cell carcinoma6
22COSM10662TP53skin,NS,carcinoma,basal cell carcinoma6
23COSM10704TP53skin,NS,carcinoma,basal cell carcinoma6
24COSM10726TP53skin,NS,carcinoma,basal cell carcinoma6
25COSM10728TP53skin,NS,carcinoma,basal cell carcinoma6
26COSM10749TP53skin,NS,carcinoma,basal cell carcinoma6
27COSM10771TP53skin,NS,carcinoma,basal cell carcinoma6
28COSM10794TP53skin,NS,carcinoma,basal cell carcinoma6
29COSM10812TP53skin,NS,carcinoma,basal cell carcinoma6
30COSM10863TP53skin,NS,carcinoma,basal cell carcinoma6
31COSM10867TP53skin,NS,carcinoma,basal cell carcinoma6
32COSM10887TP53skin,NS,carcinoma,basal cell carcinoma6
33COSM10905TP53skin,NS,carcinoma,basal cell carcinoma6
34COSM10939TP53skin,NS,carcinoma,basal cell carcinoma6
35COSM10988TP53skin,NS,carcinoma,basal cell carcinoma6
36COSM10995TP53skin,NS,carcinoma,basal cell carcinoma6
37COSM11073TP53skin,NS,carcinoma,basal cell carcinoma6
38COSM11084TP53skin,NS,carcinoma,basal cell carcinoma6
39COSM11152TP53skin,NS,carcinoma,basal cell carcinoma6
40COSM11376TP53skin,NS,carcinoma,basal cell carcinoma6
41COSM12296TP53skin,NS,carcinoma,basal cell carcinoma6
42COSM13145SMOskin,NS,carcinoma,basal cell carcinoma6
43COSM13146SMOskin,NS,carcinoma,basal cell carcinoma6
44COSM13152SMOskin,NS,carcinoma,basal cell carcinoma6
45COSM13233SUFUskin,NS,carcinoma,basal cell carcinoma6
46COSM13234SUFUskin,NS,carcinoma,basal cell carcinoma6
47COSM13240SMOskin,NS,carcinoma,basal cell carcinoma6
48COSM14439PTCH1skin,NS,carcinoma,basal cell carcinoma6
49COSM14440PTCH1skin,NS,carcinoma,basal cell carcinoma6
50COSM14446PTCH1skin,NS,carcinoma,basal cell carcinoma6

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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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
1PML bodyGO:00166059.0TP53, USP7

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

idNameGO IDScoreTop Affiliating Genes
1nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayGO:00358729.7CYLD, IKBKG
2cellular response to DNA damage stimulusGO:00069749.3IKBKG, TP53
3nucleotide-excision repairGO:00062898.9TP53, USP7

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

idNameGO IDScoreTop Affiliating Genes
1protein kinase bindingGO:00199019.4CYLD, TP53

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