MCID: MLT048
MIFTS: 30

Multiple Familial Trichoepithelioma

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

Aliases & Classifications for Multiple Familial Trichoepithelioma

MalaCards integrated aliases for Multiple Familial Trichoepithelioma:

Name: Multiple Familial Trichoepithelioma 53 25 37
Familial Multiple Trichoepitheliomata 25 29 6 73
Hereditary Multiple Benign Cystic Epithelioma 53 25
Familial Multiple Trichoepithelioma 53 59
Brooke-Fordyce Trichoepitheliomas 53 25
Epithelioma Adenoides Cysticum of Brooke 25
Trichoepitheliomata, Multiple, Familial 40
Trichoepithelioma Multiple Familial 53
Epithelioma Adenoides Cysticum 53
Trichoepithelioma 73
Eac 25
Mft 25

Characteristics:

Orphanet epidemiological data:

59
familial multiple trichoepithelioma
Inheritance: Autosomal dominant; Age of onset: Childhood;

Classifications:



External Ids:

Orphanet 59 ORPHA867
MESH via Orphanet 45 C536552
UMLS via Orphanet 74 C1275122
ICD10 via Orphanet 34 D23.3
KEGG 37 H00829

Summaries for Multiple Familial Trichoepithelioma

NIH Rare Diseases : 53 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.

MalaCards based summary : Multiple Familial Trichoepithelioma, also known as familial multiple trichoepitheliomata, is related to trichoepithelioma, multiple familial, 2 and trichoepithelioma, multiple familial, 1. An important gene associated with Multiple Familial Trichoepithelioma is CYLD (CYLD Lysine 63 Deubiquitinase). Affiliated tissues include skin and eye, and related phenotypes are subcutaneous nodule and basal cell carcinoma

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 : 76 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, 2 31.0 CYLD MFT2
2 trichoepithelioma, multiple familial, 1 11.8
3 brooke-spiegler syndrome 11.4
4 cylindromatosis, familial 11.0
5 basal cell carcinoma 1 10.0
6 basal cell carcinoma 10.0
7 squamous cell carcinoma 9.9

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:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 subcutaneous nodule 59 32 hallmark (90%) Very frequent (99-80%) HP:0001482
2 basal cell carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002671
3 telangiectasia of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0100585
4 papule 59 32 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 29 CYLD

Anatomical Context for Multiple Familial Trichoepithelioma

MalaCards organs/tissues related to Multiple Familial Trichoepithelioma:

41
Skin, Eye

Publications for Multiple Familial Trichoepithelioma

Articles related to Multiple Familial Trichoepithelioma:

(show all 45)
# Title Authors Year
1
Squamous Cell Carcinoma and Multiple Familial Trichoepitheliomas: A Recurrent Association. ( 29972217 )
2018
2
Multiple Familial Trichoepithelioma. ( 29790471 )
2018
3
Multiple familial trichoepithelioma with a novel mutation of the CYLD gene. ( 28488373 )
2017
4
Sporadic Trichoblastomas and Those Occurring in the Setting of Multiple Familial Trichoepithelioma/Brooke-Spiegler Syndrome Show No BAP1 Loss. ( 28098597 )
2017
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
Twelve Years' Observation of Multiple Familial Trichoepithelioma with Squamous Carcinoma. ( 27293274 )
2016
8
Multiple familial trichoepithelioma: confirmation via dermoscopy. ( 27648384 )
2016
9
Clustered unilateral trichoepitheliomas indicate Type 1 segmental manifestation of multiple familial trichoepithelioma. ( 27339671 )
2016
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 recurrent R936X mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma. ( 25751345 )
2015
13
Multiple Familial Trichoepithelioma with an Adjacent Basal Cell Carcinoma, Transformation or Collision - A Case Report and Review of Literature. ( 26120156 )
2015
14
Large Germline Deletions of the CYLD Gene in Patients With Brooke-Spiegler Syndrome and Multiple Familial Trichoepithelioma. ( 25347032 )
2014
15
A novel mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma. ( 25117167 )
2014
16
A novel frameshift mutation in the cylindromatosis (CYLD) gene in a Chinese family with multiple familial trichoepithelioma. ( 25234269 )
2014
17
Multiple familial trichoepithelioma with malignant transformation. ( 24082215 )
2013
18
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
19
[Multiple familial trichoepithelioma: a new CYLD gene mutation]. ( 23567228 )
2013
20
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
21
Familial Facial disfigurement in Multiple Familial Trichoepithelioma. ( 24551711 )
2013
22
Three Mutations of CYLD Gene in Chinese Families With Multiple Familial Trichoepithelioma. ( 24247569 )
2013
23
Trichoblastic carcinoma associated with multiple familial trichoepithelioma. ( 22849566 )
2012
24
A novel mutation of CYLD in a Chinese family with multiple familial trichoepithelioma. ( 22049921 )
2012
25
Mutation analysis of the CYLD gene in two Chinese families with multiple familial Trichoepithelioma. ( 21605102 )
2011
26
Multiple (familial) trichoepitheliomas: a clinicopathological and molecular biological study, including CYLD and PTCH gene analysis, of a series of 16 patients. ( 21389835 )
2011
27
Recurrent CYLD nonsense mutation associated with a severe, disfiguring phenotype in an African American family with multiple familial trichoepithelioma. ( 21712687 )
2011
28
A novel missense mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma. ( 19911186 )
2010
29
Multiple familial trichoepithelioma: a case report and review of literature. ( 20499764 )
2010
30
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
31
A novel splicing mutation of the CYLD gene in a Taiwanese family with multiple familial trichoepithelioma. ( 19076795 )
2009
32
Multiple familial trichoepithelioma and familial cylindroma: one cause! ( 18355210 )
2008
33
Novel substitution and frameshift mutations of CYLD in two Chinese families with multiple familial trichoepithelioma. ( 18363762 )
2008
34
A novel missense mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma. ( 18242958 )
2008
35
Malignant transformation of multiple familial trichoepithelioma: case report and literature review. ( 18176750 )
2008
36
A novel mutation of CYLD in a Chinese family with multiple familial trichoepithelioma and no CYLD protein expression in the tumour tissue. ( 17662085 )
2007
37
A novel missense mutation in the CYLD gene in a Spanish family with multiple familial trichoepithelioma. ( 17875891 )
2007
38
CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes. ( 16922728 )
2006
39
Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation. ( 15854031 )
2005
40
Multiple familial trichoepithelioma: a rare cutaneous tumour. ( 15353143 )
2004
41
CYLD mutation causes multiple familial trichoepithelioma in three Chinese families. ( 15024746 )
2004
42
Multiple familial trichoepithelioma caused by mutations in the cylindromatosis tumor suppressor gene. ( 15289313 )
2004
43
Identification of the cylindromatosis tumor-suppressor gene responsible for multiple familial trichoepithelioma. ( 15086550 )
2004
44
Basal cell carcinoma occurring in multiple familial trichoepithelioma: detection of loss of heterozygosity in chromosome 9q. ( 9158430 )
1997
45
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.2240A> G (p.Glu747Gly) single nucleotide variant Pathogenic rs121908389 GRCh38 Chromosome 16, 50791689: 50791689
5 CYLD NM_015247.2(CYLD): c.2806C> T (p.Arg936Ter) single nucleotide variant Pathogenic rs121908390 GRCh37 Chromosome 16, 50830354: 50830354
6 CYLD NM_015247.2(CYLD): c.2806C> T (p.Arg936Ter) single nucleotide variant Pathogenic rs121908390 GRCh38 Chromosome 16, 50796443: 50796443
7 CYLD NM_015247.2(CYLD): c.1950-5_1950-2delCTTA deletion Uncertain significance rs886040881 GRCh38 Chromosome 16, 50786850: 50786853
8 CYLD NM_015247.2(CYLD): c.1950-5_1950-2delCTTA deletion Uncertain significance rs886040881 GRCh37 Chromosome 16, 50820761: 50820764

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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