MCID: MLT048
MIFTS: 33

Multiple Familial Trichoepithelioma malady

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

Aliases & Classifications for Multiple Familial Trichoepithelioma

About this section
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

About this section
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, eye and brain.

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

About this section

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



Diseases related to multiple familial trichoepithelioma

Symptoms for Multiple Familial Trichoepithelioma

About this section

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

Drugs & Therapeutics for Multiple Familial Trichoepithelioma

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Multiple Familial Trichoepithelioma

Genetic Tests for Multiple Familial Trichoepithelioma

About this section

Anatomical Context for Multiple Familial Trichoepithelioma

About this section

MalaCards organs/tissues related to Multiple Familial Trichoepithelioma:

33
Skin, Eye, Brain, Skeletal muscle, Breast, Testes, T cells

Animal Models for Multiple Familial Trichoepithelioma or affiliated genes

About this section

Publications for Multiple Familial Trichoepithelioma

About this section

Articles related to Multiple Familial Trichoepithelioma:

(show all 36)
idTitleAuthorsYear
1
Strongyloidiasis in Latin American immigrants: a pilot study. (27121364)
2016
2
Krabbe disease: involvement of connexin43 in the apoptotic effects of sphingolipid psychosine on mouse oligodendrocyte precursors. (26459425)
2015
3
CLIP-170 tethers kinetochores to microtubule plus ends against poleward force by dynein for stable kinetochore-microtubule attachment. (26231764)
2015
4
Validity of reaction to severe stress and adjustment disorder diagnoses in the Danish Psychiatric Central Research Registry. (25870515)
2015
5
Circulating MMP11 and specific antibody immune response in breast and prostate cancer patients. (24564996)
2014
6
A feasibility study on the prediction of acute graft-vs.-host disease before hematopoietic stem cell transplantation based on fetomaternal tolerance. (23639967)
2013
7
Benign cephalic histiocytosis. (24350010)
2013
8
Analysis of MTHFR and MTRR Gene Polymorphisms in Iranian Ventricular Septal Defect Subjects. (23358257)
2013
9
Incidence of amyotrophic lateral sclerosis among American Indians and Alaska natives. (23440294)
2013
10
Histiocytic sarcoma - targeted therapy: novel therapeutic options? A series of 4 cases. (22846978)
2012
11
Metabolic acidosis during treatment of mushroom poisoning: a diagnostic pitfall. (22576391)
2012
12
High-mobility group nucleosome-binding protein 1 acts as an alarmin and is critical for lipopolysaccharide-induced immune responses. (22184635)
2012
13
Mutation in the SLC37A4 gene of glycogen storage disease type Ib in 15 families of the mainland of China]. (21575371)
2011
14
Fibroblast growth factor-21 may mediate growth hormone resistance in anorexia nervosa. (19926712)
2010
15
A toll-like receptor 4 variant is associated with fatal outcome in children with invasive meningococcal disease. (19067670)
2009
16
NeuroScale, the battery of behavioral tests with novel scoring system for phenotyping of transgenic rat model of tauopathy. (18977247)
2009
17
A six-nucleotide insertion-deletion polymorphism in the CASP8 promoter is associated with risk of coal workers' pneumoconiosis. (19492233)
2009
18
In silico analysis of structural and functional consequences in p16INK4A by deleterious nsSNPs associated CDKN2A gene in malignant melanoma. (18573309)
2008
19
Microscopic colitis with giant cells: a clinico-pathological review of 11 cases and comparison with microscopic colitis without giant cells. (18985521)
2008
20
The Drosophila peptidoglycan recognition protein PGRP-LF blocks PGRP-LC and IMD/JNK pathway activation. (18474356)
2008
21
MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly. (17683084)
2007
22
The MedRisk Instrument for Measuring Patient Satisfaction With Physical Therapy Care: a psychometric analysis. (15754601)
2005
23
Irreversible cellular senescence induced by prolonged exposure to H2O2 involves DNA-damage-and-repair genes and telomere shortening. (15833273)
2005
24
Primary aldosteronism--careful investigation is essential and rewarding. (15134798)
2004
25
Degradation of Bcl10 induced by T-cell activation negatively regulates NF-kappa B signaling. (15082780)
2004
26
Associations of the IL12B promoter polymorphism in longitudinal data from asthmatic patients 7 to 42 years of age. (15007350)
2004
27
Cytokines and chemokines in serum and urine as early predictors to identify septic patients on intensive care unit. (12964035)
2003
28
Refolding of the catalytic and hinge domains of human MT1-mMP expressed in Escherichia coli and its characterization. (11911461)
2002
29
The cyclin-dependent kinase inhibitor butyrolactone is a potent inhibitor of p21 (WAF1/CIP1 expression). (12429914)
2002
30
Buffalo-milk enzyme levels, their sensitivity to heat inactivation, and their possible use as markers for pasteurization. (10914671)
2000
31
In vivo regulation of mu-opioid receptor density and gene expression in CXBK and outbred Swiss Webster mice. (10881033)
2000
32
Evaluation of the replication error phenotype in relation to molecular and clinicopathological features in hereditary and early onset colorectal cancer. (10448273)
1999
33
Cloning of Rab GTPases expressed in human skeletal muscle: studies in insulin-resistant subjects. (9918381)
1998
34
PCR detection of JC virus DNA in the brain tissue of a 9-year-old child with pleomorphic xanthoastrocytoma. (9584961)
1998
35
Creatine kinase BB and neuron-specific enolase in cerebrospinal fluid in the diagnosis of brain insult. (7495260)
1995
36
Involutional melancholia revisited. (6691457)
1984

Variations for Multiple Familial Trichoepithelioma

About this section

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 1313)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
1COSM29068PTCH1skin,NS,carcinoma,basal cell carcinoma3
2COSM29068PTCH1skin,NS,carcinoma,basal cell carcinoma3
3COSM29070PTCH1skin,face,carcinoma,basal cell carcinoma3
4COSM29068PTCH1skin,NS,carcinoma,basal cell carcinoma3
5COSM29068PTCH1skin,NS,carcinoma,basal cell carcinoma3
6COSM29062PTCH1skin,NS,carcinoma,basal cell carcinoma3
7COSM29068PTCH1skin,NS,carcinoma,basal cell carcinoma3
8COSM29070PTCH1skin,face,carcinoma,NS3
9COSM29070PTCH1skin,face,carcinoma,NS3
10COSM29071PTCH1skin,face,carcinoma,NS3
11COSM29071PTCH1skin,NS,carcinoma,basal cell carcinoma3
12COSM29071PTCH1skin,face,carcinoma,NS3
13COSM29071PTCH1skin,face,carcinoma,basal cell carcinoma3
14COSM29070PTCH1skin,NS,carcinoma,basal cell carcinoma3
15COSM29070PTCH1skin,NS,carcinoma,basal cell carcinoma3
16COSM29062PTCH1skin,NS,carcinoma,basal cell carcinoma3
17COSM29061PTCH1skin,NS,carcinoma,basal cell carcinoma3
18COSM29055PTCH1skin,face,carcinoma,NS3
19COSM29055PTCH1skin,face,carcinoma,NS3
20COSM29055PTCH1skin,face,carcinoma,basal cell carcinoma3
21COSM29054PTCH1skin,NS,carcinoma,basal cell carcinoma3
22COSM29053PTCH1skin,NS,carcinoma,basal cell carcinoma3
23COSM29054PTCH1skin,NS,carcinoma,basal cell carcinoma3
24COSM29055PTCH1skin,NS,carcinoma,basal cell carcinoma3
25COSM29055PTCH1skin,NS,carcinoma,basal cell carcinoma3
26COSM29061PTCH1skin,face,carcinoma,NS3
27COSM29061PTCH1skin,NS,carcinoma,basal cell carcinoma3
28COSM29061PTCH1skin,face,carcinoma,NS3
29COSM29061PTCH1skin,face,carcinoma,basal cell carcinoma3
30COSM29057PTCH1skin,NS,carcinoma,basal cell carcinoma3
31COSM29057PTCH1skin,NS,carcinoma,basal cell carcinoma3
32COSM29071PTCH1skin,NS,carcinoma,basal cell carcinoma3
33COSM29147PTCH1skin,face,carcinoma,basal cell carcinoma3
34COSM96958PTCH1skin,NS,carcinoma,basal cell carcinoma3
35COSM96959PTCH1skin,NS,carcinoma,basal cell carcinoma3
36COSM96959PTCH1skin,NS,carcinoma,basal cell carcinoma3
37COSM96958PTCH1skin,NS,carcinoma,basal cell carcinoma3
38COSM96958PTCH1skin,NS,carcinoma,basal cell carcinoma3
39COSM96957PTCH1skin,NS,carcinoma,basal cell carcinoma3
40COSM96957PTCH1skin,NS,carcinoma,basal cell carcinoma3
41COSM96959PTCH1skin,NS,carcinoma,basal cell carcinoma3
42COSM96960PTCH1skin,NS,carcinoma,basal cell carcinoma3
43COSM96963PTCH1skin,NS,carcinoma,basal cell carcinoma3
44COSM96964PTCH1skin,NS,carcinoma,basal cell carcinoma3
45COSM96963PTCH1skin,NS,carcinoma,basal cell carcinoma3
46COSM96963PTCH1skin,NS,carcinoma,basal cell carcinoma3
47COSM96960PTCH1skin,NS,carcinoma,basal cell carcinoma3
48COSM96960PTCH1skin,NS,carcinoma,basal cell carcinoma3
49COSM96957PTCH1skin,NS,carcinoma,basal cell carcinoma3
50COSM96936PTCH1skin,NS,carcinoma,basal cell carcinoma3

Expression for genes affiliated with Multiple Familial Trichoepithelioma

About this section
Search GEO for disease gene expression data for Multiple Familial Trichoepithelioma.

Pathways for genes affiliated with Multiple Familial Trichoepithelioma

About this section

GO Terms for genes affiliated with Multiple Familial Trichoepithelioma

About this section

Sources for Multiple Familial Trichoepithelioma

About this section
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