MCID: MLT048
MIFTS: 30

Multiple Familial Trichoepithelioma

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

Aliases & Classifications for Multiple Familial Trichoepithelioma

MalaCards integrated aliases for Multiple Familial Trichoepithelioma:

Name: Multiple Familial Trichoepithelioma 49 24 36
Familial Multiple Trichoepitheliomata 24 28 69
Hereditary Multiple Benign Cystic Epithelioma 49 24
Familial Multiple Trichoepithelioma 49 55
Brooke-Fordyce Trichoepitheliomas 49 24
Epithelioma Adenoides Cysticum of Brooke 24
Trichoepithelioma Multiple Familial 49
Epithelioma Adenoides Cysticum 49
Trichoepithelioma 69
Eac 24
Mft 24

Characteristics:

Orphanet epidemiological data:

55
familial multiple trichoepithelioma
Inheritance: Autosomal dominant; Age of onset: Childhood;

Classifications:



External Ids:

Orphanet 55 ORPHA867
UMLS via Orphanet 70 C1275122
MESH via Orphanet 42 C536552
ICD10 via Orphanet 33 D23.3
KEGG 36 H00829

Summaries for Multiple Familial Trichoepithelioma

NIH Rare Diseases : 49 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 subcutaneous nodule, basal cell carcinoma and telangiectasia 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 : 72 Multiple familial trichoepithelioma (also known as Brooke–Spiegler syndrome and epithelioma adenoides... more...

Related Diseases for Multiple Familial Trichoepithelioma

Diseases in the Multiple Familial Trichoepithelioma family:

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

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

# Related Disease Score Top Affiliating Genes
1 trichoepithelioma, multiple familial, 1 11.8
2 trichoepithelioma, multiple familial, 2 11.7
3 migraine with or without aura 2 11.3
4 cylindromatosis, familial 11.0
5 brooke-spiegler syndrome 10.3
6 basal cell carcinoma 1 10.0
7 basal cell carcinoma 10.0

Graphical network of the top 20 diseases related to Multiple Familial Trichoepithelioma:



Diseases related to Multiple Familial Trichoepithelioma

Symptoms & Phenotypes for Multiple Familial Trichoepithelioma

Human phenotypes related to Multiple Familial Trichoepithelioma:

55 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 subcutaneous nodule 55 31 hallmark (90%) Very frequent (99-80%) HP:0001482
2 basal cell carcinoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0002671
3 telangiectasia of the skin 55 31 frequent (33%) Frequent (79-30%) HP:0100585
4 papule 55 31 hallmark (90%) Very frequent (99-80%) HP:0200034

Drugs & Therapeutics for Multiple Familial Trichoepithelioma

Search Clinical Trials , NIH Clinical Center for Multiple Familial Trichoepithelioma

Genetic Tests for Multiple Familial Trichoepithelioma

Genetic tests related to Multiple Familial Trichoepithelioma:

# Genetic test Affiliating Genes
1 Familial Multiple Trichoepitheliomata 28 CYLD

Anatomical Context for Multiple Familial Trichoepithelioma

MalaCards organs/tissues related to Multiple Familial Trichoepithelioma:

38
Skin, Eye

Publications for Multiple Familial Trichoepithelioma

Articles related to Multiple Familial Trichoepithelioma:

(show all 43)
# Title Authors Year
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
Multiple Familial Trichoepithelioma Successfully Treated With CO2 Laser and Imiquimod. ( 28031139 )
2016
4
Twelve Years' Observation of Multiple Familial Trichoepithelioma with Squamous Carcinoma. ( 27293274 )
2016
5
Multiple familial trichoepithelioma: confirmation via dermoscopy. ( 27648384 )
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
Clustered unilateral trichoepitheliomas indicate Type 1 segmental manifestation of multiple familial trichoepithelioma. ( 27339671 )
2016
8
Multiple Familial Trichoepithelioma with an Adjacent Basal Cell Carcinoma, Transformation or Collision - A Case Report and Review of Literature. ( 26120156 )
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
<i>CYLD</i> GeneticTesting for Brooke-Spiegler Syndrome, Familial Cylindromatosis and Multiple Familial Trichoepitheliomas. ( 25737804 )
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
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
17
Multiple familial trichoepithelioma with malignant transformation. ( 24082215 )
2013
18
Familial Facial disfigurement in Multiple Familial Trichoepithelioma. ( 24551711 )
2013
19
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
20
Three Mutations of CYLD Gene in Chinese Families With Multiple Familial Trichoepithelioma. ( 24247569 )
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
Multiple (familial) trichoepitheliomas: a clinicopathological and molecular biological study, including CYLD and PTCH gene analysis, of a series of 16 patients. ( 21389835 )
2011
24
Recurrent CYLD nonsense mutation associated with a severe, disfiguring phenotype in an African American family with multiple familial trichoepithelioma. ( 21712687 )
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
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
29
A novel splicing mutation of the CYLD gene in a Taiwanese family with multiple familial trichoepithelioma. ( 19076795 )
2009
30
Novel substitution and frameshift mutations of CYLD in two Chinese families with multiple familial trichoepithelioma. ( 18363762 )
2008
31
Malignant transformation of multiple familial trichoepithelioma: case report and literature review. ( 18176750 )
2008
32
A novel missense mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma. ( 18242958 )
2008
33
Multiple familial trichoepithelioma and familial cylindroma: one cause! ( 18355210 )
2008
34
A novel mutation of CYLD in a Chinese family with multiple familial trichoepithelioma and no CYLD protein expression in the tumour tissue. ( 17662085 )
2007
35
A novel missense mutation in the CYLD gene in a Spanish family with multiple familial trichoepithelioma. ( 17875891 )
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
Multiple familial trichoepithelioma: a rare cutaneous tumour. ( 15353143 )
2004
39
Identification of the cylindromatosis tumor-suppressor gene responsible for multiple familial trichoepithelioma. ( 15086550 )
2004
40
Multiple familial trichoepithelioma caused by mutations in the cylindromatosis tumor suppressor gene. ( 15289313 )
2004
41
CYLD mutation causes multiple familial trichoepithelioma in three Chinese families. ( 15024746 )
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

ClinVar genetic disease variations for Multiple Familial Trichoepithelioma:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CYLD CYLD, 2-BP DEL, 2241AG deletion Pathogenic
2 CYLD CYLD, IVS12AS, T-G, +2 single nucleotide variant Pathogenic
3 CYLD NM_015247.2(CYLD): c.2240A> G (p.Glu747Gly) single nucleotide variant Pathogenic rs121908389 GRCh37 Chromosome 16, 50825600: 50825600
4 CYLD NM_015247.2(CYLD): c.2806C> T (p.Arg936Ter) single nucleotide variant Pathogenic rs121908390 GRCh37 Chromosome 16, 50830354: 50830354

Expression for Multiple Familial Trichoepithelioma

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

Pathways for Multiple Familial Trichoepithelioma

GO Terms for Multiple Familial Trichoepithelioma

Sources for Multiple Familial Trichoepithelioma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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