EAC
MCID: MLT048
MIFTS: 28

Multiple Familial Trichoepithelioma (EAC) malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Skin diseases

Aliases & Classifications for Multiple Familial Trichoepithelioma

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Sources:
25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 40MESH via Orphanet, 48NIH Rare Diseases, 54Orphanet, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Multiple Familial Trichoepithelioma:

Name: Multiple Familial Trichoepithelioma 48 25
Familial Multiple Trichoepitheliomata 25 27 68
Hereditary Multiple Benign Cystic Epithelioma 48 25
Familial Multiple Trichoepithelioma 48 54
Brooke-Fordyce Trichoepitheliomas 48 25
Epithelioma Adenoides Cysticum of Brooke 25
 
Trichoepithelioma Multiple Familial 48
Epithelioma Adenoides Cysticum 48
Trichoepithelioma 68
Eac 25
Mft 25

Characteristics:

Orphanet epidemiological data:

54
familial multiple trichoepithelioma:
Inheritance: Autosomal dominant; Age of onset: Childhood

Classifications:



External Ids:

Orphanet54 ORPHA867
MESH via Orphanet40 C536552
UMLS via Orphanet69 C1275122
ICD10 via Orphanet31 D23.3

Summaries for Multiple Familial Trichoepithelioma

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NIH Rare Diseases:48 Multiple familial trichoepithelioma is a genetic disorder characterized by multiple smooth, round, firm, skin-colored tumors (trichoepitheliomas) that usually occur on the face, but may also occur on the scalp, neck, and trunk. the tumors are from immature hair follicles. they usually first develop during childhood or adolescence and may grow larger and increase in number over time. the genetic disorder can be caused by mutations in the cyld gene or by mutations in other genes which are still unknown. the condition may be divided in two subtypes, multiple familial trichoepithelioma type 1 and multiple familial trichoepithelioma type 2.  susceptibility to multiple familial trichoepithelioma is inherited in an autosomal dominant fashion, which means one copy of the mutated gene in each cell increases the risk of developing this disorder. however, a second, non-inherited (acquired) mutation is required for the tumors to develop in this disorder. treatment often involves surgery to remove a single lesion and cryosurgery or laser surgery for multiple ones. last updated: 4/21/2017

MalaCards based summary: Multiple Familial Trichoepithelioma, also known as familial multiple trichoepitheliomata, is related to trichoepithelioma, multiple familial, 1 and trichoepithelioma, multiple familial, 2, and has symptoms including Array, Array and Array. An important gene associated with Multiple Familial Trichoepithelioma is CYLD (CYLD Lysine 63 Deubiquitinase). Affiliated tissues include skin and eye.

Genetics Home Reference:25 Multiple familial trichoepithelioma is a condition involving multiple skin tumors that develop from structures associated with the skin (skin appendages), such as hair follicles and sweat glands. People with multiple familial trichoepithelioma typically develop large numbers of smooth, round tumors called trichoepitheliomas, which arise from hair follicles. Trichoepitheliomas are generally noncancerous (benign) but occasionally develop into a type of skin cancer called basal cell carcinoma.

Wikipedia:71 Multiple familial trichoepithelioma (also known as Brooke–Spiegler syndrome and epithelioma... more...

Related Diseases for Multiple Familial Trichoepithelioma

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Diseases in the Multiple Familial Trichoepithelioma family:

Trichoepithelioma, Multiple Familial, 2 Trichoepithelioma, Multiple Familial, 1

Diseases related to Multiple Familial Trichoepithelioma via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1trichoepithelioma, multiple familial, 111.8
2trichoepithelioma, multiple familial, 211.6
3cylindromatosis, familial10.9
4brooke-spiegler syndrome10.2
5basal cell carcinoma9.9

Graphical network of diseases related to Multiple Familial Trichoepithelioma:



Diseases related to multiple familial trichoepithelioma

Symptoms & Phenotypes for Multiple Familial Trichoepithelioma

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Human phenotypes related to Multiple Familial Trichoepithelioma:

 54 64
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 subcutaneous nodule64 54 Very frequent (99-80%) HP:0001482
2 basal cell carcinoma64 54 Occasional (29-5%) HP:0002671
3 teleangiectasia of the skin54 Frequent (79-30%)
4 papule64 54 Very frequent (99-80%) HP:0200034
5 telangiectasia of the skin64 HP:0100585

Drugs & Therapeutics for Multiple Familial Trichoepithelioma

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Multiple Familial Trichoepithelioma

Genetic Tests for Multiple Familial Trichoepithelioma

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Genetic tests related to Multiple Familial Trichoepithelioma:

id Genetic test Affiliating Genes
1 Familial Multiple Trichoepitheliomata27

Anatomical Context for Multiple Familial Trichoepithelioma

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MalaCards organs/tissues related to Multiple Familial Trichoepithelioma:

36
Skin, Eye

Publications for Multiple Familial Trichoepithelioma

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Articles related to Multiple Familial Trichoepithelioma:

(show all 43)
idTitleAuthorsYear
1
Sporadic Trichoblastomas and Those Occurring in the Setting of Multiple Familial Trichoepithelioma/Brooke-Spiegler Syndrome Show No BAP1 Loss. (28098597)
2017
2
Multiple familial trichoepithelioma with a novel mutation of the CYLD gene. (28488373)
2017
3
Clustered unilateral trichoepitheliomas indicate Type 1 segmental manifestation of multiple familial trichoepithelioma. (27339671)
2016
4
Twelve Years' Observation of Multiple Familial Trichoepithelioma with Squamous Carcinoma. (27293274)
2016
5
Multiple Familial Trichoepithelioma Successfully Treated With CO2 Laser and Imiquimod. (28031139)
2016
6
The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene. (26861065)
2016
7
Multiple familial trichoepithelioma: confirmation via dermoscopy. (27648384)
2016
8
CYLD GeneticTesting for Brooke-Spiegler Syndrome, Familial Cylindromatosis and Multiple Familial Trichoepitheliomas. (25737804)
2015
9
A recurrent R936X mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma. (25751345)
2015
10
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
11
Multiple Familial Trichoepithelioma with an Adjacent Basal Cell Carcinoma, Transformation or Collision - A Case Report and Review of Literature. (26120156)
2015
12
A novel frameshift mutation in the cylindromatosis (CYLD) gene in a Chinese family with multiple familial trichoepithelioma. (25234269)
2014
13
A novel mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma. (25117167)
2014
14
Large Germline Deletions of the CYLD Gene in Patients With Brooke-Spiegler Syndrome and Multiple Familial Trichoepithelioma. (25347032)
2014
15
Multiple familial trichoepithelioma: a new CYLD gene mutation]. (23567228)
2013
16
Three Mutations of CYLD Gene in Chinese Families With Multiple Familial Trichoepithelioma. (24247569)
2013
17
Multiple familial trichoepithelioma with malignant transformation. (24082215)
2013
18
Multiple familial trichoepithelioma: report of a Chinese family not associated with a mutation in the CYLD gene and CYLD protein expression in the trichoepithelioma tumor tissue. (23879700)
2013
19
Familial Facial disfigurement in Multiple Familial Trichoepithelioma. (24551711)
2013
20
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
21
Trichoblastic carcinoma associated with multiple familial trichoepithelioma. (22849566)
2012
22
A novel mutation of CYLD in a Chinese family with multiple familial trichoepithelioma. (22049921)
2012
23
Recurrent CYLD nonsense mutation associated with a severe, disfiguring phenotype in an African American family with multiple familial trichoepithelioma. (21712687)
2011
24
Multiple (familial) trichoepitheliomas: a clinicopathological and molecular biological study, including CYLD and PTCH gene analysis, of a series of 16 patients. (21389835)
2011
25
Mutation analysis of the CYLD gene in two Chinese families with multiple familial Trichoepithelioma. (21605102)
2011
26
Multiple familial trichoepithelioma: a case report and review of literature. (20499764)
2010
27
A novel missense mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma. (19911186)
2010
28
A novel splicing mutation of the CYLD gene in a Taiwanese family with multiple familial trichoepithelioma. (19076795)
2009
29
Spectrum of tumors with follicular differentiation in a patient with the clinical phenotype of multiple familial trichoepitheliomas: a clinicopathological and molecular biological study, including analysis of the CYLD and PTCH genes. (19730223)
2009
30
Novel substitution and frameshift mutations of CYLD in two Chinese families with multiple familial trichoepithelioma. (18363762)
2008
31
A novel missense mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma. (18242958)
2008
32
Malignant transformation of multiple familial trichoepithelioma: case report and literature review. (18176750)
2008
33
Multiple familial trichoepithelioma and familial cylindroma: one cause! (18355210)
2008
34
A novel missense mutation in the CYLD gene in a Spanish family with multiple familial trichoepithelioma. (17875891)
2007
35
A novel mutation of CYLD in a Chinese family with multiple familial trichoepithelioma and no CYLD protein expression in the tumour tissue. (17662085)
2007
36
CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes. (16922728)
2006
37
Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation. (15854031)
2005
38
Identification of the cylindromatosis tumor-suppressor gene responsible for multiple familial trichoepithelioma. (15086550)
2004
39
CYLD mutation causes multiple familial trichoepithelioma in three Chinese families. (15024746)
2004
40
Multiple familial trichoepithelioma: a rare cutaneous tumour. (15353143)
2004
41
Multiple familial trichoepithelioma caused by mutations in the cylindromatosis tumor suppressor gene. (15289313)
2004
42
Basal cell carcinoma occurring in multiple familial trichoepithelioma: detection of loss of heterozygosity in chromosome 9q. (9158430)
1997
43
The gene for multiple familial trichoepithelioma maps to chromosome 9p21. (8752837)
1996

Variations for Multiple Familial Trichoepithelioma

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Clinvar genetic disease variations for Multiple Familial Trichoepithelioma:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CYLDCYLD, 2-BP DEL, 2241AGdeletionPathogenic
2CYLDCYLD, IVS12AS, T-G, +2SNVPathogenic
3CYLDNM_ 015247.2(CYLD): c.2240A> G (p.Glu747Gly)SNVPathogenicrs121908389GRCh37Chr 16, 50825600: 50825600
4CYLDNM_ 015247.2(CYLD): c.2806C> T (p.Arg936Ter)SNVPathogenicrs121908390GRCh37Chr 16, 50830354: 50830354

Expression for genes affiliated with Multiple Familial Trichoepithelioma

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Search GEO for disease gene expression data for Multiple Familial Trichoepithelioma.

Pathways for genes affiliated with Multiple Familial Trichoepithelioma

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GO Terms for genes affiliated with Multiple Familial Trichoepithelioma

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Sources for Multiple Familial Trichoepithelioma

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet