FCYL
MCID: CYL004
MIFTS: 33

Cylindromatosis, Familial (FCYL)

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

Aliases & Classifications for Cylindromatosis, Familial

MalaCards integrated aliases for Cylindromatosis, Familial:

Name: Cylindromatosis, Familial 56 73 29 13 54 6 39
Ancell-Spiegler Cylindromas 56 73 71
Familial Cylindromatosis 58 36
Turban Tumor Syndrome 58 73
Dermal Eccrine Cylindromatosis 73
Cylindromas, Dermal Eccrine 56
Dermal Eccrine Cylindroma 52
Eccrine Dermal Cylindroma 71
'turban Tumor' Syndrome 56
Fcyl 73

Characteristics:

Orphanet epidemiological data:

58
familial cylindromatosis
Inheritance: Autosomal dominant;

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
cylindromatosis, familial:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM 56 132700
KEGG 36 H00828
MESH via Orphanet 44 C536611
UMLS via Orphanet 72 C1704217 C1851526
Orphanet 58 ORPHA211
UMLS 71 C1305968 C1851526

Summaries for Cylindromatosis, Familial

OMIM : 56 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)

MalaCards based summary : Cylindromatosis, Familial, also known as ancell-spiegler cylindromas, is related to brooke-spiegler syndrome and trichoepithelioma, multiple familial, 1. An important gene associated with Cylindromatosis, Familial is CYLD (CYLD Lysine 63 Deubiquitinase). Affiliated tissues include skin, colon and kidney, and related phenotypes are subcutaneous nodule and telangiectasia of the skin

NIH Rare Diseases : 52 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.

KEGG : 36 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 : 73 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:

# Related Disease Score Top Affiliating Genes
1 brooke-spiegler syndrome 11.7
2 trichoepithelioma, multiple familial, 1 10.6
3 adenoid cystic carcinoma 10.1
4 spiradenoma 10.1
5 tuberous sclerosis 1 10.0
6 tuberous sclerosis 10.0
7 skin disease 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:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 subcutaneous nodule 58 31 hallmark (90%) Very frequent (99-80%) HP:0001482
2 telangiectasia of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0100585
3 neoplasm of the skin 31 HP:0008069

Symptoms via clinical synopsis from OMIM:

56
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:

40
Skin, Colon, Kidney, Lung

Publications for Cylindromatosis, Familial

Articles related to Cylindromatosis, Familial:

(show all 37)
# Title Authors PMID Year
1
CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes. 6 56 54
16922728 2006
2
Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation. 54 56 6
15854031 2005
3
Phenotype diversity in familial cylindromatosis: a frameshift mutation in the tumor suppressor gene CYLD underlies different tumors of skin appendages. 56 6 54
12190880 2002
4
Identification of the familial cylindromatosis tumour-suppressor gene. 56 6
10835629 2000
5
Ancell-Spiegler cylindromas (turban tumours) and Brooke-Fordyce Trichoepitheliomas: evidence for a single genetic entity. 56 61
5653864 1968
6
CYLD Cutaneous Syndrome 6
32298062 2020
7
Five novel germline function-impairing mutations of CYLD in Italian patients with multiple cylindromas. 6
19807742 2009
8
Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling. 56
19462465 2009
9
CYLD mutations in familial skin appendage tumours. 56
18234730 2008
10
Genetics of skin appendage neoplasms and related syndromes. 56
16272260 2005
11
Familial cylindromatosis. 56
15287417 2004
12
Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12-q13. 56
10982183 2000
13
Familial cylindromatosis mimicking tuberous sclerosis complex and confirmation of the cylindromatosis locus, CYLD1, in a large family. 56
9783709 1998
14
The cylindromatosis gene (cyld1) on chromosome 16q may be the only tumour suppressor gene involved in the development of cylindromas. 56
8649842 1996
15
Familial cylindromatosis (turban tumour syndrome) gene localised to chromosome 16q12-q13: evidence for its role as a tumour suppressor gene. 56
7493027 1995
16
Familial cutaneous cylindromas: investigations in five generations of a family. 56
7622645 1995
17
Dermal eccrine cylindromatosis. 56
8071959 1994
18
Autosomal dominant multiple cylindromas associated with solitary lung cylindroma. 56
2842382 1988
19
The diagnosis of disease from ancient coins. 56
11620339 1973
20
Cylindroma. 56
4285059 1966
21
Cylindromatosis simulating neurofibromatosis. 56
13863824 1962
22
Turban tumours in brother and sister. 56
13869820 1961
23
[On the nosology of Spiegler-Brookes tumors]. 56
13709529 1961
24
History of a remarkable case of tumours, developed on the head and face; accompanied with a similar disease in the abdomen. 56
20895749 1842
25
Loss of the tumor suppressor CYLD enhances Wnt/beta-catenin signaling through K63-linked ubiquitination of Dvl. 54
20227366 2010
26
A novel splicing mutation of the CYLD gene in a Taiwanese family with multiple familial trichoepithelioma. 54
19076795 2009
27
Trichoepithelioma. 54
19061604 2008
28
Five new CYLD mutations in skin appendage tumors and evidence that aspartic acid 681 in CYLD is essential for deubiquitinase activity. 54
17851586 2008
29
Potential role of CYLD (Cylindromatosis) as a deubiquitinating enzyme in vascular cells. 54
18245814 2008
30
Reduced expression of CYLD in human colon and hepatocellular carcinomas. 54
16774947 2007
31
Diverse phenotype of Brooke-Spiegler syndrome associated with a nonsense mutation in the CYLD tumor suppressor gene. 54
17083363 2006
32
Mild phenotype of familial cylindromatosis associated with an R758X nonsense mutation in the CYLD tumour suppressor gene. 54
15541090 2004
33
CYLD mutation causes multiple familial trichoepithelioma in three Chinese families. 54
15024746 2004
34
Small RNA: can RNA interference be exploited for therapy? 54
14585643 2003
35
CYLD is a deubiquitinating enzyme that negatively regulates NF-kappaB activation by TNFR family members. 54
12917689 2003
36
Loss of the cylindromatosis tumour suppressor inhibits apoptosis by activating NF-kappaB. 54
12917690 2003
37
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. 54
11756779 2002

Variations for Cylindromatosis, Familial

ClinVar genetic disease variations for Cylindromatosis, Familial:

6 (show top 50) (show all 142) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CYLD NM_015247.2(CYLD):c.2242-2A>GSNV Pathogenic 267247 rs886040886 16:50826506-50826506 16:50792595-50792595
2 CYLD NM_015247.2(CYLD):c.2291_2295del (p.Lys764fs)deletion Pathogenic 267248 rs886040887 16:50826555-50826559 16:50792644-50792648
3 CYLD NM_015247.2(CYLD):c.2299A>T (p.Lys767Ter)SNV Pathogenic 267249 rs886040888 16:50826565-50826565 16:50792654-50792654
4 CYLD NM_015247.2(CYLD):c.2350+1G>TSNV Pathogenic 267251 rs886040890 16:50826617-50826617 16:50792706-50792706
5 CYLD NM_015247.2(CYLD):c.2390_2391del (p.Met796_Tyr797insTer)deletion Pathogenic 267252 rs886040891 16:50827495-50827496 16:50793584-50793585
6 CYLD NM_015247.2(CYLD):c.2406_2407del (p.Cys802_Tyr803delinsTer)deletion Pathogenic 267253 rs886040892 16:50827512-50827513 16:50793601-50793602
7 CYLD NM_015247.2(CYLD):c.2515del (p.Ser839fs)deletion Pathogenic 267254 rs886040893 16:50828168-50828168 16:50794257-50794257
8 CYLD NM_015247.2(CYLD):c.2569C>T (p.Gln857Ter)SNV Pathogenic 267255 rs886040894 16:50828222-50828222 16:50794311-50794311
9 CYLD NM_015247.2(CYLD):c.2469+1G>ASNV Pathogenic 5252 16:50827576-50827576 16:50793665-50793665
10 CYLD NM_015247.2(CYLD):c.2272C>T (p.Arg758Ter)SNV Pathogenic 5253 rs121908388 16:50826538-50826538 16:50792627-50792627
11 CYLD NM_015247.2(CYLD):c.2252del (p.Cys751fs)deletion Pathogenic 5254 16:50826518-50826518 16:50792607-50792607
12 CYLD NM_015247.2(CYLD):c.2806C>T (p.Arg936Ter)SNV Pathogenic 5259 rs121908390 16:50830354-50830354 16:50796443-50796443
13 CYLD NM_015247.2(CYLD):c.561dup (p.Gln188fs)duplication Pathogenic 5260 16:50785566-50785567 16:50751655-50751656
14 CYLD CYLD, 4-BP DEL, 1950-1GATAdeletion Pathogenic 5262
15 CYLD NM_015247.2(CYLD):c.987_988dup (p.Gly330fs)duplication Pathogenic 267231 rs886040871 16:50810153-50810154 16:50776242-50776243
16 CYLD NM_015247.2(CYLD):c.831_834del (p.Asp277fs)deletion Pathogenic 267228 rs886040868 16:50788250-50788253 16:50754339-50754342
17 CYLD NM_015247.2(CYLD):c.911dup (p.Ala305fs)duplication Pathogenic 267229 rs886040869 16:50788330-50788331 16:50754419-50754420
18 CYLD NM_015247.2(CYLD):c.1112C>A (p.Ser371Ter)SNV Pathogenic 267232 rs886040872 16:50811826-50811826 16:50777915-50777915
19 CYLD NM_015247.2(CYLD):c.1327C>T (p.Gln443Ter)SNV Pathogenic 267233 rs764952788 16:50813764-50813764 16:50779853-50779853
20 CYLD NM_015247.2(CYLD):c.1363C>T (p.Gln455Ter)SNV Pathogenic 267234 rs886040873 16:50813800-50813800 16:50779889-50779889
21 CYLD NM_015247.2(CYLD):c.1658_1661del (p.Asn553fs)deletion Pathogenic 267237 rs886040876 16:50815294-50815297 16:50781383-50781386
22 CYLD NM_015247.2(CYLD):c.1771A>T (p.Lys591Ter)SNV Pathogenic 267240 rs886040879 16:50816322-50816322 16:50782411-50782411
23 CYLD NM_015247.2(CYLD):c.1950-2_1953deldeletion Pathogenic 267243 rs886040882 16:50820763-50820768 16:50786852-50786857
24 CYLD NM_015247.2(CYLD):c.2041G>C (p.Asp681His)SNV Uncertain significance 267244 rs886040883 16:50820857-50820857 16:50786946-50786946
25 CYLD NM_015247.2(CYLD):c.1503C>T (p.Leu501=)SNV Uncertain significance 319504 rs752471076 16:50813940-50813940 16:50780029-50780029
26 CYLD NM_015247.2(CYLD):c.1778G>A (p.Gly593Asp)SNV Uncertain significance 267241 rs886040880 16:50816329-50816329 16:50782418-50782418
27 CYLD NM_001042355.2(CYLD):c.*59T>CSNV Uncertain significance 884715 16:50830478-50830478 16:50796567-50796567
28 CYLD NM_001042355.2(CYLD):c.*29T>CSNV Uncertain significance 887868 16:50830448-50830448 16:50796537-50796537
29 CYLD NM_001042355.2(CYLD):c.2580T>C (p.Ala860=)SNV Uncertain significance 886616 16:50828242-50828242 16:50794331-50794331
30 CYLD NM_001042355.2(CYLD):c.1285A>C (p.Ser429Arg)SNV Uncertain significance 884650 16:50813731-50813731 16:50779820-50779820
31 CYLD NM_001042355.2(CYLD):c.1262C>A (p.Thr421Asn)SNV Uncertain significance 887795 16:50813708-50813708 16:50779797-50779797
32 CYLD NM_001042355.2(CYLD):c.-215C>GSNV Uncertain significance 886479 16:50776024-50776024 16:50742113-50742113
33 CYLD NC_000016.10:g.50742051T>CSNV Uncertain significance 886478 16:50775962-50775962 16:50742051-50742051
34 CYLD NM_015247.2(CYLD):c.1684G>C (p.Ala562Pro)SNV Uncertain significance 267238 rs886040877 16:50815322-50815322 16:50781411-50781411
35 CYLD NM_015247.2(CYLD):c.1684+3A>CSNV Uncertain significance 267239 rs886040878 16:50815325-50815325 16:50781414-50781414
36 CYLD NM_015247.2(CYLD):c.665C>A (p.Thr222Lys)SNV Uncertain significance 133957 rs587778225 16:50785675-50785675 16:50751764-50751764
37 CYLD NM_015247.2(CYLD):c.-161A>GSNV Uncertain significance 319495 rs886052051 16:50778740-50778740 16:50744829-50744829
38 CYLD NM_015247.2(CYLD):c.-23A>CSNV Uncertain significance 319496 rs771486432 16:50783587-50783587 16:50749676-50749676
39 CYLD NM_001042355.2(CYLD):c.*5327C>ASNV Uncertain significance 887102 16:50835746-50835746 16:50801835-50801835
40 CYLD NM_001042355.2(CYLD):c.*5060G>TSNV Uncertain significance 886098 16:50835479-50835479 16:50801568-50801568
41 CYLD NM_001042355.2(CYLD):c.*4530G>TSNV Uncertain significance 887035 16:50834949-50834949 16:50801038-50801038
42 CYLD NM_001042355.2(CYLD):c.*4514C>GSNV Uncertain significance 886040 16:50834933-50834933 16:50801022-50801022
43 CYLD NM_001042355.2(CYLD):c.*3865C>TSNV Uncertain significance 885133 16:50834284-50834284 16:50800373-50800373
44 CYLD NM_001042355.2(CYLD):c.*3851T>CSNV Uncertain significance 888241 16:50834270-50834270 16:50800359-50800359
45 CYLD NM_001042355.2(CYLD):c.*3589C>TSNV Uncertain significance 885051 16:50834008-50834008 16:50800097-50800097
46 CYLD NM_001042355.2(CYLD):c.*3462A>GSNV Uncertain significance 885050 16:50833881-50833881 16:50799970-50799970
47 CYLD NM_001042355.2(CYLD):c.*3151T>GSNV Uncertain significance 886903 16:50833570-50833570 16:50799659-50799659
48 CYLD NM_001042355.2(CYLD):c.*2848A>GSNV Uncertain significance 884989 16:50833267-50833267 16:50799356-50799356
49 CYLD NM_001042355.2(CYLD):c.*2521G>ASNV Uncertain significance 886839 16:50832940-50832940 16:50799029-50799029
50 CYLD NM_001042355.2(CYLD):c.*2424C>TSNV Uncertain significance 885845 16:50832843-50832843 16:50798932-50798932

Expression for Cylindromatosis, Familial

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Pathways for Cylindromatosis, Familial

GO Terms for Cylindromatosis, Familial

Sources for Cylindromatosis, Familial

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