MCID: MLT048
MIFTS: 30

Multiple Familial Trichoepithelioma malady

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

Aliases & Classifications for Multiple Familial Trichoepithelioma

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Sources:
45NIH Rare Diseases, 23Genetics Home Reference, 51Orphanet, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Multiple Familial Trichoepithelioma:

Name: Multiple Familial Trichoepithelioma 45 23
Familial Multiple Trichoepitheliomata 23 24 65
Hereditary Multiple Benign Cystic Epithelioma 45 23
Familial Multiple Trichoepithelioma 45 51
Brooke-Fordyce Trichoepitheliomas 45 23
Epithelioma Adenoides Cysticum of Brooke 23
 
Trichoepithelioma Multiple Familial 45
Epithelioma Adenoides Cysticum 45
Trichoepithelioma 65
Eac 23
Mft 23

Characteristics:

Orphanet epidemiological data:

51
familial multiple trichoepithelioma:
Inheritance: Autosomal dominant; Age of onset: Childhood

Classifications:



External Ids:

Orphanet51 867
ICD10 via Orphanet28 D23.3
MESH via Orphanet37 C536552
UMLS via Orphanet66 C1275122
UMLS65 C1275122, C0349658

Summaries for Multiple Familial Trichoepithelioma

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NIH Rare Diseases:45 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 trichoepithelioma, multiple familial, 2, 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, breast and eye.

Genetics Home Reference:23 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:68 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, 111.7
2trichoepithelioma, multiple familial, 211.5
3brooke-spiegler syndrome10.3
4cylindromatosis, familial10.1
5basal cell carcinoma10.0
6complex partial epilepsy10.0

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:

 51
  • follicular/erythematous/edematous papules/milium
  • skin tumors/lumps/epidermal cysts
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • autosomal dominant inheritance
  • telangiectasiae of the skin
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)

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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Anatomical Context for Multiple Familial Trichoepithelioma

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MalaCards organs/tissues related to Multiple Familial Trichoepithelioma:

33
Skin, Breast, Eye, Prostate, Brain, Testes, T cells

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 37)
idTitleAuthorsYear
1
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
2
A recurrent R936X mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma. (25751345)
2015
3
Multiple Familial Trichoepithelioma with an Adjacent Basal Cell Carcinoma, Transformation or Collision - A Case Report and Review of Literature. (26120156)
2015
4
<i>CYLD</i> GeneticTesting for Brooke-Spiegler Syndrome, Familial Cylindromatosis and Multiple Familial Trichoepitheliomas. (25737804)
2015
5
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
6
A novel mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma. (25117167)
2014
7
A novel frameshift mutation in the cylindromatosis (CYLD) gene in a Chinese family with multiple familial trichoepithelioma. (25234269)
2014
8
Large Germline Deletions of the CYLD Gene in Patients With Brooke-Spiegler Syndrome and Multiple Familial Trichoepithelioma. (25347032)
2014
9
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
10
Multiple familial trichoepithelioma: a new CYLD gene mutation]. (23567228)
2013
11
Familial Facial disfigurement in Multiple Familial Trichoepithelioma. (24551711)
2013
12
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
13
Three Mutations of CYLD Gene in Chinese Families With Multiple Familial Trichoepithelioma. (24247569)
2013
14
Multiple familial trichoepithelioma with malignant transformation. (24082215)
2013
15
Trichoblastic carcinoma associated with multiple familial trichoepithelioma. (22849566)
2012
16
A novel mutation of CYLD in a Chinese family with multiple familial trichoepithelioma. (22049921)
2012
17
Recurrent CYLD nonsense mutation associated with a severe, disfiguring phenotype in an African American family with multiple familial trichoepithelioma. (21712687)
2011
18
Multiple (familial) trichoepitheliomas: a clinicopathological and molecular biological study, including CYLD and PTCH gene analysis, of a series of 16 patients. (21389835)
2011
19
Mutation analysis of the CYLD gene in two Chinese families with multiple familial Trichoepithelioma. (21605102)
2011
20
A novel missense mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma. (19911186)
2010
21
Multiple familial trichoepithelioma: a case report and review of literature. (20499764)
2010
22
A novel splicing mutation of the CYLD gene in a Taiwanese family with multiple familial trichoepithelioma. (19076795)
2009
23
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
24
Malignant transformation of multiple familial trichoepithelioma: case report and literature review. (18176750)
2008
25
Novel substitution and frameshift mutations of CYLD in two Chinese families with multiple familial trichoepithelioma. (18363762)
2008
26
A novel missense mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma. (18242958)
2008
27
Multiple familial trichoepithelioma and familial cylindroma: one cause! (18355210)
2008
28
A novel missense mutation in the CYLD gene in a Spanish family with multiple familial trichoepithelioma. (17875891)
2007
29
A novel mutation of CYLD in a Chinese family with multiple familial trichoepithelioma and no CYLD protein expression in the tumour tissue. (17662085)
2007
30
CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes. (16922728)
2006
31
Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation. (15854031)
2005
32
Identification of the cylindromatosis tumor-suppressor gene responsible for multiple familial trichoepithelioma. (15086550)
2004
33
Multiple familial trichoepithelioma caused by mutations in the cylindromatosis tumor suppressor gene. (15289313)
2004
34
Multiple familial trichoepithelioma: a rare cutaneous tumour. (15353143)
2004
35
CYLD mutation causes multiple familial trichoepithelioma in three Chinese families. (15024746)
2004
36
Basal cell carcinoma occurring in multiple familial trichoepithelioma: detection of loss of heterozygosity in chromosome 9q. (9158430)
1997
37
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

Cosmic variations for Multiple Familial Trichoepithelioma:

7 (show top 50)    (show all 233)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
1COSM214343CYLDskin,face,adnexal tumour,trichoepithelioma26
2COSM498HRASskin,face,carcinoma,basal cell carcinoma6
3COSM521KRASskin,face,carcinoma,basal cell carcinoma6
4COSM564NRASskin,face,carcinoma,basal cell carcinoma6
5COSM714FGFR3skin,scalp,other,adenoid6
6COSM715FGFR3skin,scalp,other,adenoid6
7COSM716FGFR3skin,scalp,other,adenoid6
8COSM719FGFR3skin,neck,other,adenoid6
9COSM721FGFR3skin,scalp,other,adenoid6
10COSM760PIK3CAskin,trunk,other,adenoid6
11COSM10654TP53skin,face,carcinoma,basal cell carcinoma6
12COSM10656TP53skin,face,carcinoma,basal cell carcinoma6
13COSM10662TP53skin,face,carcinoma,basal cell carcinoma6
14COSM10704TP53skin,face,carcinoma,basal cell carcinoma6
15COSM10726TP53skin,face,carcinoma,basal cell carcinoma6
16COSM10728TP53skin,face,carcinoma,basal cell carcinoma6
17COSM10749TP53skin,face,carcinoma,basal cell carcinoma6
18COSM10812TP53skin,face,carcinoma,basal cell carcinoma6
19COSM10887TP53skin,face,carcinoma,basal cell carcinoma6
20COSM10939TP53skin,face,carcinoma,basal cell carcinoma6
21COSM11073TP53skin,face,carcinoma,basal cell carcinoma6
22COSM11084TP53skin,face,carcinoma,basal cell carcinoma6
23COSM13145SMOskin,face,carcinoma,basal cell carcinoma6
24COSM13146SMOskin,face,carcinoma,basal cell carcinoma6
25COSM13233SUFUskin,face,carcinoma,basal cell carcinoma6
26COSM13234SUFUskin,face,carcinoma,basal cell carcinoma6
27COSM13240SMOskin,face,carcinoma,basal cell carcinoma6
28COSM14439PTCH1skin,face,carcinoma,basal cell carcinoma6
29COSM14440PTCH1skin,face,carcinoma,basal cell carcinoma6
30COSM14446PTCH1skin,face,carcinoma,basal cell carcinoma6
31COSM14464PTCH1skin,face,carcinoma,basal cell carcinoma6
32COSM17460PTCH1skin,face,carcinoma,basal cell carcinoma6
33COSM17462PTCH1skin,face,carcinoma,basal cell carcinoma6
34COSM17467PTCH1skin,face,carcinoma,basal cell carcinoma6
35COSM17472PTCH1skin,face,carcinoma,basal cell carcinoma6
36COSM17473PTCH1skin,face,carcinoma,basal cell carcinoma6
37COSM17489PTCH1skin,face,carcinoma,basal cell carcinoma6
38COSM17492PTCH1skin,face,carcinoma,basal cell carcinoma6
39COSM17493PTCH1skin,face,carcinoma,basal cell carcinoma6
40COSM17494PTCH1skin,face,carcinoma,basal cell carcinoma6
41COSM17495PTCH1skin,face,carcinoma,basal cell carcinoma6
42COSM17496PTCH1skin,face,carcinoma,basal cell carcinoma6
43COSM17497PTCH1skin,face,carcinoma,basal cell carcinoma6
44COSM17519PTCH1skin,face,carcinoma,basal cell carcinoma6
45COSM17520PTCH1skin,face,carcinoma,basal cell carcinoma6
46COSM17530PTCH1skin,face,carcinoma,basal cell carcinoma6
47COSM17532PTCH1skin,face,carcinoma,basal cell carcinoma6
48COSM17533PTCH1skin,face,carcinoma,basal cell carcinoma6
49COSM17582PTCH1skin,face,carcinoma,basal cell carcinoma6
50COSM17585PTCH1skin,face,carcinoma,basal cell carcinoma6

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
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