FCYL
MCID: CYL004
MIFTS: 39

Cylindromatosis, Familial (FCYL)

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

Aliases & Classifications for Cylindromatosis, Familial

MalaCards integrated aliases for Cylindromatosis, Familial:

Name: Cylindromatosis, Familial 57 53 25 74 29 13 55 6 40
Ancell-Spiegler Cylindromas 57 25 74 72
Familial Cylindromatosis 53 25 59 37
Turban Tumor Syndrome 53 25 59 74
Dermal Eccrine Cylindroma 53 25
Dermal Eccrine Cylindromatosis 74
Cylindromas, Dermal Eccrine 57
Eccrine Dermal Cylindroma 72
'turban Tumor' Syndrome 57
Turban Tumors 53
Cyld 53
Fcyl 74

Characteristics:

Orphanet epidemiological data:

59
familial cylindromatosis
Inheritance: Autosomal dominant;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in early adulthood
allelic disorder to multiple familial trichoepithelioma 1 (mft1, ) and brooke-spiegler syndrome (bss, )


HPO:

32
cylindromatosis, familial:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 132700
KEGG 37 H00828
MESH via Orphanet 45 C536611
UMLS via Orphanet 73 C1704217 C1851526
Orphanet 59 ORPHA211
UMLS 72 C1305968 C1851526

Summaries for Cylindromatosis, Familial

Genetics Home Reference : 25 Familial cylindromatosis 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 familial cylindromatosis typically develop large numbers of tumors called cylindromas. While previously thought to derive from sweat glands, cylindromas are now generally believed to begin in hair follicles. Individuals with familial cylindromatosis occasionally develop other types of tumors, including growths called spiradenomas and trichoepitheliomas. Spiradenomas begin in sweat glands. Trichoepitheliomas arise from hair follicles. The tumors associated with familial cylindromatosis are generally noncancerous (benign), but occasionally they may become cancerous (malignant). Affected individuals are also at increased risk of developing tumors in tissues other than skin appendages, particularly benign or malignant tumors of the salivary glands. People with familial cylindromatosis typically begin developing tumors in adolescence or early adulthood. The tumors are most often found in hairy regions of the body, with approximately 90 percent occurring on the head and neck. They grow larger and increase in number over time. In severely affected individuals, multiple tumors on the scalp may combine into a large, turban-like growth. Large growths frequently develop open sores (ulcers) and are prone to infections. The tumors may also get in the way of the eyes, ears, nose, or mouth and affect vision, hearing, or other functions. The growths can be disfiguring and may contribute to depression or other psychological problems. For reasons that are unclear, females with familial cylindromatosis are often more severely affected than males.

MalaCards based summary : Cylindromatosis, Familial, also known as ancell-spiegler cylindromas, is related to trichoepithelioma, multiple familial, 2 and brooke-spiegler syndrome. An important gene associated with Cylindromatosis, Familial is CYLD (CYLD Lysine 63 Deubiquitinase). Affiliated tissues include skin, salivary gland and eye, and related phenotypes are subcutaneous nodule and telangiectasia of the skin

NIH Rare Diseases : 53 Cylindromas are non-cancerous (benign) tumors that develop from the skin. They most commonly occur on the head and neck and rarely become cancerous (malignant). An individual can develop one or many cylindromas; if a person develops only one, the cylindroma likely occurred by chance and typically is not inherited. They usually begin to form during mid-adulthood as a slow-growing, rubbery nodule that causes no symptoms. The development of multiple cylindromas can be hereditary and is inherited in an autosomal dominant manner; this condition is called familial cylindromatosis. Individuals with the inherited form begin to develop many, rounded nodules of various size shortly after puberty. The tumors grow very slowly and increase in number over time.

OMIM : 57 The disorders classically referred to as familial cylindromatosis, Brooke-Spiegler syndrome, and multiple familial trichoepithelioma were originally described as distinct clinical entities. Patients with BRSS develop multiple skin appendage tumors including cylindromas, trichoepitheliomas, and spiradenomas. Patients with familial cylindromatosis have only cylindromas, and those with MFT1 have only trichoepitheliomas. However, because these disorders show overlapping phenotypic features, and because different manifestations of each have been described within a single family, many consider these disorders to represent a phenotypic spectrum of a single disease entity (Guggenheim and Schnyder, 1961; Welch et al., 1968; Gerretsen et al., 1995; Lee et al., 2005; Bowen et al., 2005; Young et al., 2006; Saggar et al., 2008). Van Balkom and Hennekam (1994), who preferred the designation 'dermal eccrine cylindromatosis' for familial cylindromatosis, provided a review. 'Eccrine' referred to histologic evidence that the tumors may originate from the eccrine sweat glands. Blake and Toro (2009) provided a detailed review of the spectrum of disorders associated with CYLD mutations. (132700)

KEGG : 37
Familial cylindromatosis is a rare, autosomal dominant disorder characterized by the development of multiple benign tumors originating from the skin appendages. It is linked to CYLD gene, whose loss of function impairs epidermal differentiation.

UniProtKB/Swiss-Prot : 74 Cylindromatosis, familial: A disorder characterized by multiple skin tumors that develop from skin appendages, such as hair follicles and sweat glands. Affected individuals typically develop large numbers of tumors called cylindromas that arise predominantly in hairy parts of the body with approximately 90% on the head and neck. In severely affected individuals, cylindromas may combine into a confluent mass which may ulcerate or become infected (turban tumor syndrome). Individuals with familial cylindromatosis occasionally develop other types of tumors including spiradenomas that begin in sweat glands, and trichoepitheliomas arising from hair follicles.

Related Diseases for Cylindromatosis, Familial

Diseases related to Cylindromatosis, Familial via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 128)
# Related Disease Score Top Affiliating Genes
1 trichoepithelioma, multiple familial, 2 29.9 MIR3181 LOC105371251 LOC102724907 CYLD
2 brooke-spiegler syndrome 11.9
3 basal cell carcinoma 11.7
4 streptococcus pneumonia 11.7
5 multiple familial trichoepithelioma 11.6
6 anus basaloid carcinoma 11.6
7 salivary gland carcinoma 11.3
8 visual agnosia 11.3
9 salivary gland disease 11.3
10 sweat gland disease 11.3
11 epidermal appendage tumor 11.3
12 sweat gland neoplasm 11.3
13 skin benign neoplasm 11.3
14 apocrine sweat gland neoplasm 11.3
15 oral cavity cancer 11.1
16 trichoepithelioma, multiple familial, 1 10.6
17 lymphocytic leukemia 10.3
18 hepatocellular carcinoma 10.3
19 leukemia, acute lymphoblastic 10.2
20 adenoid cystic carcinoma 10.2
21 spiradenoma 10.2
22 listeriosis 10.2
23 adenocarcinoma 10.2
24 skin carcinoma 10.2
25 adenoma 10.2
26 acute respiratory distress syndrome 10.2
27 haemophilus influenzae 10.2
28 precursor t-cell acute lymphoblastic leukemia 10.2
29 myeloma, multiple 10.1
30 proteasome-associated autoinflammatory syndrome 1 10.1
31 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
32 gastric cancer 10.1
33 colitis 10.1
34 melanoma 10.1
35 glioblastoma multiforme 10.1
36 acute t cell leukemia 10.1
37 t-cell leukemia 10.1
38 glioblastoma 10.1
39 leukemia, t-cell, chronic 10.1
40 nevus, epidermal 10.1
41 oligohydramnios 10.1
42 biliary atresia 10.1
43 hidradenoma 10.1
44 bowen's disease 10.1
45 hidradenocarcinoma 10.1
46 malignant cylindroma 10.1
47 posttransplant acute limbic encephalitis 10.1
48 overgrowth syndrome 10.1
49 leukemia, chronic lymphocytic 10.0
50 neuroblastoma 1 10.0

Graphical network of the top 20 diseases related to Cylindromatosis, Familial:



Diseases related to Cylindromatosis, Familial

Symptoms & Phenotypes for Cylindromatosis, Familial

Human phenotypes related to Cylindromatosis, Familial:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 subcutaneous nodule 59 32 hallmark (90%) Very frequent (99-80%) HP:0001482
2 telangiectasia of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0100585
3 neoplasm of the skin 32 HP:0008069

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
cylindromas, multiple (face, trunk and extremities)
cylindromas usually occur on the scalp may coalesce into large 'turban tumors'

Neoplasia:
cylindromas may show malignant transformation

Skin Nails Hair Skin Histology:
mosaic-like masses of epithelial cells surrounded by thin layers of pas-positive stroma
cells appear to be of glandular origin

Clinical features from OMIM:

132700

Drugs & Therapeutics for Cylindromatosis, Familial

Search Clinical Trials , NIH Clinical Center for Cylindromatosis, Familial

Genetic Tests for Cylindromatosis, Familial

Genetic tests related to Cylindromatosis, Familial:

# Genetic test Affiliating Genes
1 Cylindromatosis, Familial 29 CYLD

Anatomical Context for Cylindromatosis, Familial

MalaCards organs/tissues related to Cylindromatosis, Familial:

41
Skin, Salivary Gland, Eye, Colon, Lung, Kidney

Publications for Cylindromatosis, Familial

Articles related to Cylindromatosis, Familial:

(show all 42)
# Title Authors PMID Year
1
Phenotype diversity in familial cylindromatosis: a frameshift mutation in the tumor suppressor gene CYLD underlies different tumors of skin appendages. 9 38 8 71
12190880 2002
2
CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes. 9 8 71
16922728 2006
3
Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation. 9 8 71
15854031 2005
4
Identification of the familial cylindromatosis tumour-suppressor gene. 8 71
10835629 2000
5
Five novel germline function-impairing mutations of CYLD in Italian patients with multiple cylindromas. 71
19807742 2009
6
Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling. 8
19462465 2009
7
CYLD mutations in familial skin appendage tumours. 8
18234730 2008
8
Genetics of skin appendage neoplasms and related syndromes. 8
16272260 2005
9
Familial cylindromatosis. 8
15287417 2004
10
Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12-q13. 8
10982183 2000
11
Familial cylindromatosis mimicking tuberous sclerosis complex and confirmation of the cylindromatosis locus, CYLD1, in a large family. 8
9783709 1998
12
The cylindromatosis gene (cyld1) on chromosome 16q may be the only tumour suppressor gene involved in the development of cylindromas. 8
8649842 1996
13
Familial cylindromatosis (turban tumour syndrome) gene localised to chromosome 16q12-q13: evidence for its role as a tumour suppressor gene. 8
7493027 1995
14
Familial cutaneous cylindromas: investigations in five generations of a family. 8
7622645 1995
15
Dermal eccrine cylindromatosis. 8
8071959 1994
16
Autosomal dominant multiple cylindromas associated with solitary lung cylindroma. 8
2842382 1988
17
The diagnosis of disease from ancient coins. 8
11620339 1973
18
Ancell-Spiegler cylindromas (turban tumours) and Brooke-Fordyce Trichoepitheliomas: evidence for a single genetic entity. 8
5653864 1968
19
Cylindroma. 8
4285059 1966
20
Cylindromatosis simulating neurofibromatosis. 8
13863824 1962
21
Turban tumours in brother and sister. 8
13869820 1961
22
[On the nosology of Spiegler-Brookes tumors]. 8
13709529 1961
23
History of a remarkable case of tumours, developed on the head and face; accompanied with a similar disease in the abdomen. 8
20895749 1842
24
Identification of a new locus at 16q12 associated with time to asthma onset. 38
27130862 2016
25
Genetic evidence supporting the association of protease and protease inhibitor genes with inflammatory bowel disease: a systematic review. 38
21931648 2011
26
An unusual case of turban tumor syndrome treated with total scalp excision and advancement flap and skin graft reconstruction. 38
20548229 2010
27
Induction of autophagy-dependent necroptosis is required for childhood acute lymphoblastic leukemia cells to overcome glucocorticoid resistance. 38
20200450 2010
28
Loss of the tumor suppressor CYLD enhances Wnt/beta-catenin signaling through K63-linked ubiquitination of Dvl. 9
20227366 2010
29
A novel splicing mutation of the CYLD gene in a Taiwanese family with multiple familial trichoepithelioma. 9
19076795 2009
30
Trichoepithelioma. 9
19061604 2008
31
Five new CYLD mutations in skin appendage tumors and evidence that aspartic acid 681 in CYLD is essential for deubiquitinase activity. 9
17851586 2008
32
Potential role of CYLD (Cylindromatosis) as a deubiquitinating enzyme in vascular cells. 9
18245814 2008
33
Reduced expression of CYLD in human colon and hepatocellular carcinomas. 9
16774947 2007
34
Diverse phenotype of Brooke-Spiegler syndrome associated with a nonsense mutation in the CYLD tumor suppressor gene. 9
17083363 2006
35
Dissection of the inflammatory bowel disease transcriptome using genome-wide cDNA microarrays. 38
16107186 2005
36
Mild phenotype of familial cylindromatosis associated with an R758X nonsense mutation in the CYLD tumour suppressor gene. 9
15541090 2004
37
CYLD mutation causes multiple familial trichoepithelioma in three Chinese families. 9
15024746 2004
38
A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome. 38
14632188 2003
39
Small RNA: can RNA interference be exploited for therapy? 9
14585643 2003
40
CYLD is a deubiquitinating enzyme that negatively regulates NF-kappaB activation by TNFR family members. 9
12917689 2003
41
Loss of the cylindromatosis tumour suppressor inhibits apoptosis by activating NF-kappaB. 9
12917690 2003
42
Spiradenocylindroma of the kidney: clinical and genetic findings suggesting a role of somatic mutation of the CYLD1 gene in the oncogenesis of an unusual renal neoplasm. 9
11756779 2002

Variations for Cylindromatosis, Familial

ClinVar genetic disease variations for Cylindromatosis, Familial:

6 (show top 50) (show all 109)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CYLD NM_015247.2(CYLD): c.831_834del (p.Asp277fs) deletion Pathogenic rs886040868 16:50788253-50788256 16:50754342-50754345
2 CYLD NM_015247.2(CYLD): c.911dup (p.Ala305fs) duplication Pathogenic rs886040869 16:50788333-50788333 16:50754422-50754422
3 CYLD NM_015247.2(CYLD): c.987_988dup (p.Gly330fs) duplication Pathogenic rs886040871 16:50810154-50810155 16:50776243-50776244
4 CYLD NM_015247.2(CYLD): c.1112C> A (p.Ser371Ter) single nucleotide variant Pathogenic rs886040872 16:50811826-50811826 16:50777915-50777915
5 CYLD NM_015247.2(CYLD): c.1327C> T (p.Gln443Ter) single nucleotide variant Pathogenic rs764952788 16:50813764-50813764 16:50779853-50779853
6 CYLD NM_015247.2(CYLD): c.1363C> T (p.Gln455Ter) single nucleotide variant Pathogenic rs886040873 16:50813800-50813800 16:50779889-50779889
7 CYLD NM_015247.2(CYLD): c.1658_1661del (p.Asn553fs) deletion Pathogenic rs886040876 16:50815296-50815299 16:50781385-50781388
8 CYLD CYLD, NT2469, G-A, +1 single nucleotide variant Pathogenic
9 CYLD NM_015247.2(CYLD): c.2272C> T (p.Arg758Ter) single nucleotide variant Pathogenic rs121908388 16:50826538-50826538 16:50792627-50792627
10 CYLD CYLD, 1-BP DEL, 2253G deletion Pathogenic
11 CYLD NM_015247.2(CYLD): c.2806C> T (p.Arg936Ter) single nucleotide variant Pathogenic rs121908390 16:50830354-50830354 16:50796443-50796443
12 CYLD CYLD, 1-BP DUP, 561T duplication Pathogenic
13 CYLD CYLD, 4-BP DEL, 1950-1GATA deletion Pathogenic
14 CYLD NM_015247.2(CYLD): c.1771A> T (p.Lys591Ter) single nucleotide variant Pathogenic rs886040879 16:50816322-50816322 16:50782411-50782411
15 CYLD NM_015247.2(CYLD): c.1950-2_1953delAGATAT deletion Pathogenic rs886040882 16:50820764-50820769 16:50786853-50786858
16 CYLD NM_015247.2(CYLD): c.2242-2A> G single nucleotide variant Pathogenic rs886040886 16:50826506-50826506 16:50792595-50792595
17 CYLD NM_015247.2(CYLD): c.2291_2295del (p.Lys764fs) deletion Pathogenic rs886040887 16:50826557-50826561 16:50792646-50792650
18 CYLD NM_015247.2(CYLD): c.2299A> T (p.Lys767Ter) single nucleotide variant Pathogenic rs886040888 16:50826565-50826565 16:50792654-50792654
19 CYLD NM_015247.2(CYLD): c.2350+1G> T single nucleotide variant Pathogenic rs886040890 16:50826617-50826617 16:50792706-50792706
20 CYLD NM_015247.2(CYLD): c.2390_2391del (p.Met796_Tyr797insTer) deletion Pathogenic rs886040891 16:50827496-50827497 16:50793585-50793586
21 CYLD NM_015247.2(CYLD): c.2406_2407del (p.Cys802_Tyr803delinsTer) deletion Pathogenic rs886040892 16:50827512-50827513 16:50793601-50793602
22 CYLD NM_015247.2(CYLD): c.2515del (p.Ser839fs) deletion Pathogenic rs886040893 16:50828168-50828168 16:50794257-50794257
23 CYLD NM_015247.2(CYLD): c.2569C> T (p.Gln857Ter) single nucleotide variant Pathogenic rs886040894 16:50828222-50828222 16:50794311-50794311
24 CYLD NM_015247.2(CYLD): c.-161A> G single nucleotide variant Uncertain significance rs886052051 16:50778740-50778740 16:50744829-50744829
25 CYLD NM_015247.2(CYLD): c.-23A> C single nucleotide variant Uncertain significance rs771486432 16:50783587-50783587 16:50749676-50749676
26 CYLD NM_015247.2(CYLD): c.*1667G> T single nucleotide variant Uncertain significance rs750022206 16:50832086-50832086 16:50798175-50798175
27 CYLD NM_015247.2(CYLD): c.*1746C> T single nucleotide variant Uncertain significance rs886052057 16:50832165-50832165 16:50798254-50798254
28 CYLD NM_015247.2(CYLD): c.*1810A> T single nucleotide variant Uncertain significance rs886052058 16:50832229-50832229 16:50798318-50798318
29 CYLD NM_015247.2(CYLD): c.*2556A> G single nucleotide variant Uncertain significance rs747682326 16:50832975-50832975 16:50799064-50799064
30 CYLD NM_015247.2(CYLD): c.*2975C> T single nucleotide variant Uncertain significance rs886052062 16:50833394-50833394 16:50799483-50799483
31 CYLD NM_015247.2(CYLD): c.*3305A> G single nucleotide variant Uncertain significance rs886052065 16:50833724-50833724 16:50799813-50799813
32 CYLD NM_015247.2(CYLD): c.2041G> C (p.Asp681His) single nucleotide variant Uncertain significance rs886040883 16:50820857-50820857 16:50786946-50786946
33 CYLD NM_015247.2(CYLD): c.1778G> A (p.Gly593Asp) single nucleotide variant Uncertain significance rs886040880 16:50816329-50816329 16:50782418-50782418
34 CYLD NM_015247.2(CYLD): c.1684G> C (p.Ala562Pro) single nucleotide variant Uncertain significance rs886040877 16:50815322-50815322 16:50781411-50781411
35 CYLD NM_015247.2(CYLD): c.1684+3A> C single nucleotide variant Uncertain significance rs886040878 16:50815325-50815325 16:50781414-50781414
36 CYLD NM_015247.2(CYLD): c.1503C> T (p.Leu501=) single nucleotide variant Uncertain significance rs752471076 16:50813940-50813940 16:50780029-50780029
37 CYLD NM_015247.2(CYLD): c.*1308A> G single nucleotide variant Uncertain significance rs886052054 16:50831727-50831727 16:50797816-50797816
38 CYLD NM_015247.2(CYLD): c.*4494G> A single nucleotide variant Uncertain significance rs546313281 16:50834913-50834913 16:50801002-50801002
39 CYLD NM_015247.2(CYLD): c.*4702C> T single nucleotide variant Uncertain significance rs886052070 16:50835121-50835121 16:50801210-50801210
40 CYLD NM_015247.2(CYLD): c.*4841G> A single nucleotide variant Uncertain significance rs886052071 16:50835260-50835260 16:50801349-50801349
41 CYLD NM_015247.2(CYLD): c.*5384A> G single nucleotide variant Uncertain significance rs886052072 16:50835803-50835803 16:50801892-50801892
42 CYLD NM_015247.2(CYLD): c.-366G> C single nucleotide variant Uncertain significance rs886052050 16:50776010-50776010 16:50742099-50742099
43 CYLD NM_015247.2(CYLD): c.*403T> C single nucleotide variant Uncertain significance rs886052052 16:50830822-50830822 16:50796911-50796911
44 CYLD NM_015247.2(CYLD): c.*1727T> C single nucleotide variant Uncertain significance rs886052056 16:50832146-50832146 16:50798235-50798235
45 CYLD NM_015247.2(CYLD): c.*2438G> A single nucleotide variant Uncertain significance rs886052061 16:50832857-50832857 16:50798946-50798946
46 CYLD NM_015247.2(CYLD): c.*3722T> G single nucleotide variant Uncertain significance rs886052067 16:50834141-50834141 16:50800230-50800230
47 CYLD NM_015247.2(CYLD): c.59T> G (p.Ile20Ser) single nucleotide variant Uncertain significance rs764097337 16:50783668-50783668 16:50749757-50749757
48 CYLD NM_015247.2(CYLD): c.2145T> C (p.Tyr715=) single nucleotide variant Uncertain significance rs200905032 16:50825505-50825505 16:50791594-50791594
49 CYLD NM_015247.2(CYLD): c.*468A> C single nucleotide variant Uncertain significance rs886052053 16:50830887-50830887 16:50796976-50796976
50 CYLD NM_015247.2(CYLD): c.*831C> T single nucleotide variant Uncertain significance rs144877731 16:50831250-50831250 16:50797339-50797339

Cosmic variations for Cylindromatosis, Familial:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM36934 CYLD skin,scalp,adnexal tumour,cylindroma c.2032G>T p.E678* 16:50786937-50786937 20

Expression for Cylindromatosis, Familial

Search GEO for disease gene expression data for Cylindromatosis, Familial.

Pathways for Cylindromatosis, Familial

GO Terms for Cylindromatosis, Familial

Sources for Cylindromatosis, Familial

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