MCID: MLT048
MIFTS: 29

Multiple Familial Trichoepithelioma malady

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

Aliases & Classifications for Multiple Familial Trichoepithelioma

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Sources:
46NIH Rare Diseases, 24Genetics Home Reference, 52Orphanet, 25GTR, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Multiple Familial Trichoepithelioma:

Name: Multiple Familial Trichoepithelioma 46 24
Familial Multiple Trichoepitheliomata 24 25 66
Hereditary Multiple Benign Cystic Epithelioma 46 24
Familial Multiple Trichoepithelioma 46 52
Brooke-Fordyce Trichoepitheliomas 46 24
Epithelioma Adenoides Cysticum of Brooke 24
 
Trichoepithelioma Multiple Familial 46
Epithelioma Adenoides Cysticum 46
Trichoepithelioma 66
Mft 24
Eac 24

Characteristics:

Orphanet epidemiological data:

52
familial multiple trichoepithelioma:
Inheritance: Autosomal dominant; Age of onset: Childhood

Classifications:



External Ids:

Orphanet52 ORPHA867
ICD10 via Orphanet29 D23.3
MESH via Orphanet38 C536552
UMLS via Orphanet67 C1275122

Summaries for Multiple Familial Trichoepithelioma

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NIH Rare Diseases:46 Multiple familial trichoepithelioma is a rare condition 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 derived from immature hair follicles. they usually first develop during childhood or adolescence and may grow larger and increase in number over time. the condition can be caused by alterations (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 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.treatment often involves surgery to remove a single lesion and cryosurgery or laser surgery for multiple ones. last updated: 8/15/2015

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

Genetics Home Reference:24 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:69 Multiple familial trichoepithelioma (also known as Brooke–Spiegler syndrome and epithelioma adenoides... 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, 111.6
2brooke-spiegler syndrome10.3
3trichoepithelioma, multiple familial, 210.1
4cylindromatosis, familial10.1
5basal cell carcinoma10.0

Graphical network of diseases related to Multiple Familial Trichoepithelioma:



Diseases related to multiple familial trichoepithelioma

Symptoms for Multiple Familial Trichoepithelioma

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Symptoms:

 52
  • subcutaneous nodule
  • basal cell carcinoma
  • teleangiectasia of the skin
  • papule

HPO human phenotypes related to Multiple Familial Trichoepithelioma:

id Description Frequency HPO Source Accession
1 neoplasm of the skin hallmark (90%) HP:0008069
2 telangiectasia of the skin typical (50%) HP:0100585
3 neoplasm of the skin occasional (7.5%) HP:0008069

UMLS symptoms related to Multiple Familial Trichoepithelioma:


leser-trélat sign

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 Trichoepitheliomata25

Anatomical Context for Multiple Familial Trichoepithelioma

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MalaCards organs/tissues related to Multiple Familial Trichoepithelioma:

34
Skin, Eye

Animal Models for Multiple Familial Trichoepithelioma or affiliated genes

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Publications for Multiple Familial Trichoepithelioma

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Articles related to Multiple Familial Trichoepithelioma:

(show all 40)
idTitleAuthorsYear
1
Twelve Years' Observation of Multiple Familial Trichoepithelioma with Squamous Carcinoma. (27293274)
2016
2
Clustered unilateral trichoepitheliomas indicate Type 1 segmental manifestation of multiple familial trichoepithelioma. (27339671)
2016
3
Multiple familial trichoepithelioma: confirmation via dermoscopy. (27648384)
2016
4
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
5
A recurrent R936X mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma. (25751345)
2015
6
Multiple Familial Trichoepithelioma with an Adjacent Basal Cell Carcinoma, Transformation or Collision - A Case Report and Review of Literature. (26120156)
2015
7
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
8
<i>CYLD</i> GeneticTesting for Brooke-Spiegler Syndrome, Familial Cylindromatosis and Multiple Familial Trichoepitheliomas. (25737804)
2015
9
A novel frameshift mutation in the cylindromatosis (CYLD) gene in a Chinese family with multiple familial trichoepithelioma. (25234269)
2014
10
Large Germline Deletions of the CYLD Gene in Patients With Brooke-Spiegler Syndrome and Multiple Familial Trichoepithelioma. (25347032)
2014
11
A novel mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma. (25117167)
2014
12
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
13
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
14
Three Mutations of CYLD Gene in Chinese Families With Multiple Familial Trichoepithelioma. (24247569)
2013
15
Multiple familial trichoepithelioma with malignant transformation. (24082215)
2013
16
Multiple familial trichoepithelioma: a new CYLD gene mutation]. (23567228)
2013
17
Familial Facial disfigurement in Multiple Familial Trichoepithelioma. (24551711)
2013
18
Trichoblastic carcinoma associated with multiple familial trichoepithelioma. (22849566)
2012
19
A novel mutation of CYLD in a Chinese family with multiple familial trichoepithelioma. (22049921)
2012
20
Recurrent CYLD nonsense mutation associated with a severe, disfiguring phenotype in an African American family with multiple familial trichoepithelioma. (21712687)
2011
21
Multiple (familial) trichoepitheliomas: a clinicopathological and molecular biological study, including CYLD and PTCH gene analysis, of a series of 16 patients. (21389835)
2011
22
Mutation analysis of the CYLD gene in two Chinese families with multiple familial Trichoepithelioma. (21605102)
2011
23
A novel missense mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma. (19911186)
2010
24
Multiple familial trichoepithelioma: a case report and review of literature. (20499764)
2010
25
A novel splicing mutation of the CYLD gene in a Taiwanese family with multiple familial trichoepithelioma. (19076795)
2009
26
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
27
Novel substitution and frameshift mutations of CYLD in two Chinese families with multiple familial trichoepithelioma. (18363762)
2008
28
Malignant transformation of multiple familial trichoepithelioma: case report and literature review. (18176750)
2008
29
A novel missense mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma. (18242958)
2008
30
Multiple familial trichoepithelioma and familial cylindroma: one cause! (18355210)
2008
31
A novel mutation of CYLD in a Chinese family with multiple familial trichoepithelioma and no CYLD protein expression in the tumour tissue. (17662085)
2007
32
A novel missense mutation in the CYLD gene in a Spanish family with multiple familial trichoepithelioma. (17875891)
2007
33
CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes. (16922728)
2006
34
Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation. (15854031)
2005
35
Identification of the cylindromatosis tumor-suppressor gene responsible for multiple familial trichoepithelioma. (15086550)
2004
36
Multiple familial trichoepithelioma caused by mutations in the cylindromatosis tumor suppressor gene. (15289313)
2004
37
Multiple familial trichoepithelioma: a rare cutaneous tumour. (15353143)
2004
38
CYLD mutation causes multiple familial trichoepithelioma in three Chinese families. (15024746)
2004
39
Basal cell carcinoma occurring in multiple familial trichoepithelioma: detection of loss of heterozygosity in chromosome 9q. (9158430)
1997
40
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
1CYLDNM_015247.2(CYLD): c.2806C> T (p.Arg936Ter)single nucleotide variantPathogenicrs121908390GRCh37Chr 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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet