MCID: MLT048
MIFTS: 31

Multiple Familial Trichoepithelioma malady

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

Aliases & Classifications for Multiple Familial Trichoepithelioma

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Sources:
45NIH Rare Diseases, 23Genetics Home Reference, 24GTR, 65UMLS, 51Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all 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
Brooke-Fordyce Trichoepitheliomas 45 23
Epithelioma Adenoides Cysticum of Brooke 23
Trichoepithelioma Multiple Familial 45
 
Familial Multiple Trichoepithelioma 51
Epithelioma Adenoides Cysticum 45
Trichoepithelioma 65
Mft 23
Eac 23


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

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

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 adenoiditis and brooke-spiegler syndrome, and has symptoms including neoplasm of the skin, teleangiectasia of the skin and neoplasm of the skin. An important gene associated with Multiple Familial Trichoepithelioma is CYLD (Cylindromatosis (Turban Tumor Syndrome)). Affiliated tissues include skin 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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Graphical network of the top 20 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 teleangiectasia of the skin typical (50%) HP:0100585
3 neoplasm of the skin occasional (7.5%) HP:0008069

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 Trichoepitheliomata24

Anatomical Context for Multiple Familial Trichoepithelioma

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MalaCards organs/tissues related to Multiple Familial Trichoepithelioma:

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

Cosmic variations for Multiple Familial Trichoepithelioma:

7 (show top 50)    (show all 127)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
110771TP53skin,NS,carcinoma,basal cell carcinoma3
243702TP53skin,NS,carcinoma,basal cell carcinoma3
343714TP53skin,trunk,carcinoma,basal cell carcinoma3
410887TP53skin,face,carcinoma,basal cell carcinoma3
545015TP53skin,NS,carcinoma,basal cell carcinoma3
644925TP53skin,NS,carcinoma,basal cell carcinoma3
744167TP53skin,NS,carcinoma,basal cell carcinoma3
843665TP53skin,NS,carcinoma,basal cell carcinoma3
944071TP53skin,NS,carcinoma,basal cell carcinoma3
1043577TP53skin,NS,carcinoma,basal cell carcinoma3
1145138TP53skin,trunk,carcinoma,basal cell carcinoma3
126549TP53skin,NS,carcinoma,basal cell carcinoma3
1310726TP53skin,face,carcinoma,basal cell carcinoma3
1411084TP53skin,face,carcinoma,basal cell carcinoma3
1543585TP53skin,face,carcinoma,basal cell carcinoma3
1644227TP53skin,face,carcinoma,basal cell carcinoma3
1744552TP53skin,face,carcinoma,basal cell carcinoma3
1844310TP53skin,NS,carcinoma,basal cell carcinoma3
1943842TP53skin,NS,carcinoma,basal cell carcinoma3
2045734TP53skin,trunk,carcinoma,basal cell carcinoma3
2144096TP53skin,NS,carcinoma,basal cell carcinoma3
2244074TP53skin,NS,carcinoma,basal cell carcinoma3
2345020TP53skin,face,carcinoma,basal cell carcinoma3
2445019TP53skin,face,carcinoma,basal cell carcinoma3
2543608TP53skin,NS,carcinoma,basal cell carcinoma3
2644606TP53skin,NS,carcinoma,basal cell carcinoma3
2743616TP53skin,NS,carcinoma,basal cell carcinoma3
2843635TP53skin,NS,carcinoma,basal cell carcinoma3
2944909TP53skin,face,carcinoma,basal cell carcinoma3
3045740TP53skin,NS,carcinoma,basal cell carcinoma3
3110660TP53skin,NS,carcinoma,basal cell carcinoma3
3210648TP53skin,NS,carcinoma,basal cell carcinoma3
3343742TP53skin,face,carcinoma,basal cell carcinoma3
3443592TP53skin,NS,carcinoma,basal cell carcinoma3
3510992TP53skin,face,carcinoma,basal cell carcinoma3
3610728TP53skin,face,carcinoma,basal cell carcinoma3
3745017TP53skin,face,carcinoma,basal cell carcinoma3
3810704TP53skin,trunk,carcinoma,basal cell carcinoma3
3910863TP53skin,trunk,carcinoma,basal cell carcinoma3
4045732TP53skin,trunk,carcinoma,basal cell carcinoma3
4110768TP53skin,face,carcinoma,basal cell carcinoma3
4244226TP53skin,NS,carcinoma,basal cell carcinoma3
4343581TP53skin,NS,carcinoma,basal cell carcinoma3
4445776TP53skin,face,carcinoma,basal cell carcinoma3
4543920TP53skin,face,carcinoma,basal cell carcinoma3
4645420TP53skin,NS,carcinoma,basal cell carcinoma3
4743584TP53skin,NS,carcinoma,basal cell carcinoma3
4810659TP53skin,NS,carcinoma,basal cell carcinoma3
4943582TP53skin,NS,carcinoma,basal cell carcinoma3
5045739TP53skin,NS,carcinoma,basal cell carcinoma3

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