FCYL
MCID: CYL004
MIFTS: 37

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 58 54 26 76 30 13 56 6 41
Ancell-Spiegler Cylindromas 58 26 76 74
Familial Cylindromatosis 54 26 60 38
Turban Tumor Syndrome 54 26 60 76
Dermal Eccrine Cylindroma 54 26
Dermal Eccrine Cylindromatosis 76
Cylindromas, Dermal Eccrine 58
Eccrine Dermal Cylindroma 74
'turban Tumor' Syndrome 58
Turban Tumors 54
Cyld 54
Fcyl 76

Characteristics:

Orphanet epidemiological data:

60
familial cylindromatosis
Inheritance: Autosomal dominant;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
cylindromatosis, familial:
Onset and clinical course adult onset
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

OMIM 58 132700
KEGG 38 H00828
MESH via Orphanet 46 C536611
UMLS via Orphanet 75 C1704217 C1851526
Orphanet 60 ORPHA211

Summaries for Cylindromatosis, Familial

OMIM : 58 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 trichoepithelioma, multiple familial, 2 and brooke-spiegler syndrome. An important gene associated with Cylindromatosis, Familial is CYLD (CYLD Lysine 63 Deubiquitinase). The drugs Cyclophosphamide and Imatinib Mesylate have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and salivary gland, and related phenotypes are subcutaneous nodule and telangiectasia of the skin

Genetics Home Reference : 26 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.

NIH Rare Diseases : 54 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.

UniProtKB/Swiss-Prot : 76 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 68)
# Related Disease Score Top Affiliating Genes
1 trichoepithelioma, multiple familial, 2 30.8 CYLD LOC102724907 LOC105371251 MIR3181
2 brooke-spiegler syndrome 11.8
3 basal cell carcinoma 11.6
4 streptococcus pneumonia 11.5
5 anus basaloid carcinoma 11.5
6 salivary gland carcinoma 11.2
7 visual agnosia 11.1
8 salivary gland disease 11.1
9 regular astigmatism 11.1
10 sweat gland disease 11.1
11 epidermal appendage tumor 11.1
12 sweat gland neoplasm 11.1
13 apocrine sweat gland neoplasm 11.1
14 tonsil cancer 11.1
15 leukemia 10.3
16 hepatocellular carcinoma 10.3
17 lymphocytic leukemia 10.2
18 melanoma 10.2
19 trichoepithelioma, multiple familial, 1 10.2
20 adenoid cystic carcinoma 10.2
21 spiradenoma 10.2
22 multiple familial trichoepithelioma 10.2
23 breast cancer 10.1
24 basal cell carcinoma 1 10.1
25 leukemia, acute lymphoblastic 10.1
26 gastric cancer 10.1
27 listeriosis 10.1
28 nevus, epidermal 10.0
29 hidradenocarcinoma 10.0
30 leukemia, chronic lymphocytic 2 10.0
31 leukemia, chronic lymphocytic 10.0
32 lung cancer 10.0
33 myeloma, multiple 10.0
34 neuroblastoma 1 10.0
35 oral squamous cell carcinoma 10.0
36 lymphoma 10.0
37 colitis 10.0
38 squamous cell carcinoma 10.0
39 adenocarcinoma 10.0
40 skin carcinoma 10.0
41 pneumonia 10.0
42 acute t cell leukemia 10.0
43 t-cell leukemia 10.0
44 haemophilus influenzae 10.0
45 leukemia, b-cell, chronic 10.0
46 tuberous sclerosis 1 9.9
47 tuberous sclerosis 9.9
48 bladder cancer 9.9
49 colorectal cancer 9.9
50 esophageal cancer 9.9

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:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 subcutaneous nodule 60 33 hallmark (90%) Very frequent (99-80%) HP:0001482
2 telangiectasia of the skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0100585
3 neoplasm of the skin 33 HP:0008069

Symptoms via clinical synopsis from OMIM:

58
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

Drugs for Cylindromatosis, Familial (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
2 Imatinib Mesylate Phase 1 220127-57-1 123596
3 Antineoplastic Agents, Alkylating Phase 1
4 Immunosuppressive Agents Phase 1
5 Antirheumatic Agents Phase 1
6 Alkylating Agents Phase 1
7 Immunologic Factors Phase 1
8 Protein Kinase Inhibitors Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Imatinib Mesylate And Cyclophosphamide In Metronomic Administration: Dose Escalation Study Of Imatinib Mesylate Completed NCT01046487 Phase 1 Imatinib mesylate, Cyclophosphamide (Dosing level 1 );Imatinib mesylate, Cyclophosphamide (Dosing level 2);Imatinib mesylate, Cyclophosphamide (Dosing level 3)

Search NIH Clinical Center for Cylindromatosis, Familial

Genetic Tests for Cylindromatosis, Familial

Genetic tests related to Cylindromatosis, Familial:

# Genetic test Affiliating Genes
1 Cylindromatosis, Familial 30 CYLD

Anatomical Context for Cylindromatosis, Familial

MalaCards organs/tissues related to Cylindromatosis, Familial:

42
Skin, T Cells, Salivary Gland, Lung, Breast, B Cells, Tonsil

Publications for Cylindromatosis, Familial

Articles related to Cylindromatosis, Familial:

# Title Authors Year
1
Five novel germline function-impairing mutations of CYLD in Italian patients with multiple cylindromas. ( 19807742 )
2009
2
CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes. ( 16922728 )
2006
3
Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation. ( 15854031 )
2005
4
Phenotype diversity in familial cylindromatosis: a frameshift mutation in the tumor suppressor gene CYLD underlies different tumors of skin appendages. ( 12190880 )
2002
5
Identification of the familial cylindromatosis tumour-suppressor gene. ( 10835629 )
2000
6
Ancell-Spiegler cylindromas (turban tumours) and Brooke-Fordyce Trichoepitheliomas: evidence for a single genetic entity. ( 5653864 )
1968

Variations for Cylindromatosis, Familial

ClinVar genetic disease variations for Cylindromatosis, Familial:

6 (show top 50) (show all 214)
# Gene Variation Type Significance SNP ID Assembly Location
1 CYLD CYLD, NT2469, G-A, +1 single nucleotide variant Pathogenic
2 CYLD NM_015247.2(CYLD): c.2272C> T (p.Arg758Ter) single nucleotide variant Pathogenic rs121908388 GRCh37 Chromosome 16, 50826538: 50826538
3 CYLD NM_015247.2(CYLD): c.2272C> T (p.Arg758Ter) single nucleotide variant Pathogenic rs121908388 GRCh38 Chromosome 16, 50792627: 50792627
4 CYLD CYLD, 1-BP DEL, 2253G deletion Pathogenic
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 CYLD, 1-BP DUP, 561T duplication Pathogenic
8 CYLD CYLD, 4-BP DEL, 1950-1GATA deletion Pathogenic
9 CYLD NM_015247.2(CYLD): c.1292G> A (p.Gly431Glu) single nucleotide variant Likely benign rs200494719 GRCh37 Chromosome 16, 50813729: 50813729
10 CYLD NM_015247.2(CYLD): c.1292G> A (p.Gly431Glu) single nucleotide variant Likely benign rs200494719 GRCh38 Chromosome 16, 50779818: 50779818
11 CYLD NM_015247.2(CYLD): c.831_834delTGGA (p.Asp277Glufs) deletion Pathogenic rs886040868 GRCh38 Chromosome 16, 50754342: 50754345
12 CYLD NM_015247.2(CYLD): c.831_834delTGGA (p.Asp277Glufs) deletion Pathogenic rs886040868 GRCh37 Chromosome 16, 50788253: 50788256
13 CYLD NM_015247.2(CYLD): c.911dupC (p.Ala305Serfs) duplication Pathogenic rs886040869 GRCh38 Chromosome 16, 50754422: 50754422
14 CYLD NM_015247.2(CYLD): c.911dupC (p.Ala305Serfs) duplication Pathogenic rs886040869 GRCh37 Chromosome 16, 50788333: 50788333
15 CYLD NM_015247.2(CYLD): c.987_988dupAG (p.Gly330Glufs) duplication Pathogenic rs886040871 GRCh38 Chromosome 16, 50776243: 50776244
16 CYLD NM_015247.2(CYLD): c.987_988dupAG (p.Gly330Glufs) duplication Pathogenic rs886040871 GRCh37 Chromosome 16, 50810154: 50810155
17 CYLD NM_015247.2(CYLD): c.1112C> A (p.Ser371Ter) single nucleotide variant Pathogenic rs886040872 GRCh38 Chromosome 16, 50777915: 50777915
18 CYLD NM_015247.2(CYLD): c.1112C> A (p.Ser371Ter) single nucleotide variant Pathogenic rs886040872 GRCh37 Chromosome 16, 50811826: 50811826
19 CYLD NM_015247.2(CYLD): c.1327C> T (p.Gln443Ter) single nucleotide variant Pathogenic rs764952788 GRCh38 Chromosome 16, 50779853: 50779853
20 CYLD NM_015247.2(CYLD): c.1327C> T (p.Gln443Ter) single nucleotide variant Pathogenic rs764952788 GRCh37 Chromosome 16, 50813764: 50813764
21 CYLD NM_015247.2(CYLD): c.1363C> T (p.Gln455Ter) single nucleotide variant Pathogenic rs886040873 GRCh38 Chromosome 16, 50779889: 50779889
22 CYLD NM_015247.2(CYLD): c.1363C> T (p.Gln455Ter) single nucleotide variant Pathogenic rs886040873 GRCh37 Chromosome 16, 50813800: 50813800
23 CYLD NM_015247.2(CYLD): c.1658_1661delATCA (p.Asn553Argfs) deletion Pathogenic rs886040876 GRCh38 Chromosome 16, 50781385: 50781388
24 CYLD NM_015247.2(CYLD): c.1658_1661delATCA (p.Asn553Argfs) deletion Pathogenic rs886040876 GRCh37 Chromosome 16, 50815296: 50815299
25 CYLD NM_015247.2(CYLD): c.1684G> C (p.Ala562Pro) single nucleotide variant Uncertain significance rs886040877 GRCh38 Chromosome 16, 50781411: 50781411
26 CYLD NM_015247.2(CYLD): c.1684G> C (p.Ala562Pro) single nucleotide variant Uncertain significance rs886040877 GRCh37 Chromosome 16, 50815322: 50815322
27 CYLD NM_015247.2(CYLD): c.1684+3A> C single nucleotide variant Uncertain significance rs886040878 GRCh38 Chromosome 16, 50781414: 50781414
28 CYLD NM_015247.2(CYLD): c.1684+3A> C single nucleotide variant Uncertain significance rs886040878 GRCh37 Chromosome 16, 50815325: 50815325
29 CYLD NM_015247.2(CYLD): c.1771A> T (p.Lys591Ter) single nucleotide variant Pathogenic rs886040879 GRCh38 Chromosome 16, 50782411: 50782411
30 CYLD NM_015247.2(CYLD): c.1771A> T (p.Lys591Ter) single nucleotide variant Pathogenic rs886040879 GRCh37 Chromosome 16, 50816322: 50816322
31 CYLD NM_015247.2(CYLD): c.1778G> A (p.Gly593Asp) single nucleotide variant Uncertain significance rs886040880 GRCh38 Chromosome 16, 50782418: 50782418
32 CYLD NM_015247.2(CYLD): c.1778G> A (p.Gly593Asp) single nucleotide variant Uncertain significance rs886040880 GRCh37 Chromosome 16, 50816329: 50816329
33 CYLD NM_015247.2(CYLD): c.1950-2_1953delAGATAT deletion Pathogenic rs886040882 GRCh38 Chromosome 16, 50786853: 50786858
34 CYLD NM_015247.2(CYLD): c.1950-2_1953delAGATAT deletion Pathogenic rs886040882 GRCh37 Chromosome 16, 50820764: 50820769
35 CYLD NM_015247.2(CYLD): c.2041G> C (p.Asp681His) single nucleotide variant Uncertain significance rs886040883 GRCh38 Chromosome 16, 50786946: 50786946
36 CYLD NM_015247.2(CYLD): c.2041G> C (p.Asp681His) single nucleotide variant Uncertain significance rs886040883 GRCh37 Chromosome 16, 50820857: 50820857
37 CYLD NM_015247.2(CYLD): c.2242-2A> G single nucleotide variant Pathogenic rs886040886 GRCh38 Chromosome 16, 50792595: 50792595
38 CYLD NM_015247.2(CYLD): c.2242-2A> G single nucleotide variant Pathogenic rs886040886 GRCh37 Chromosome 16, 50826506: 50826506
39 CYLD NM_015247.2(CYLD): c.2291_2295delAACTA (p.Lys764Ilefs) deletion Pathogenic rs886040887 GRCh38 Chromosome 16, 50792646: 50792650
40 CYLD NM_015247.2(CYLD): c.2291_2295delAACTA (p.Lys764Ilefs) deletion Pathogenic rs886040887 GRCh37 Chromosome 16, 50826557: 50826561
41 CYLD NM_015247.2(CYLD): c.2299A> T (p.Lys767Ter) single nucleotide variant Pathogenic rs886040888 GRCh38 Chromosome 16, 50792654: 50792654
42 CYLD NM_015247.2(CYLD): c.2299A> T (p.Lys767Ter) single nucleotide variant Pathogenic rs886040888 GRCh37 Chromosome 16, 50826565: 50826565
43 CYLD NM_015247.2(CYLD): c.2350+1G> T single nucleotide variant Pathogenic rs886040890 GRCh38 Chromosome 16, 50792706: 50792706
44 CYLD NM_015247.2(CYLD): c.2350+1G> T single nucleotide variant Pathogenic rs886040890 GRCh37 Chromosome 16, 50826617: 50826617
45 CYLD NM_015247.2(CYLD): c.2390_2391delAT (p.Tyr797Terfs) deletion Pathogenic rs886040891 GRCh38 Chromosome 16, 50793585: 50793586
46 CYLD NM_015247.2(CYLD): c.2390_2391delAT (p.Tyr797Terfs) deletion Pathogenic rs886040891 GRCh37 Chromosome 16, 50827496: 50827497
47 CYLD NM_015247.2(CYLD): c.2406_2407delCT (p.Cys802Terfs) deletion Pathogenic rs886040892 GRCh38 Chromosome 16, 50793601: 50793602
48 CYLD NM_015247.2(CYLD): c.2406_2407delCT (p.Cys802Terfs) deletion Pathogenic rs886040892 GRCh37 Chromosome 16, 50827512: 50827513
49 CYLD NM_015247.2(CYLD): c.2515delT (p.Ser839Hisfs) deletion Pathogenic rs886040893 GRCh38 Chromosome 16, 50794257: 50794257
50 CYLD NM_015247.2(CYLD): c.2515delT (p.Ser839Hisfs) deletion Pathogenic rs886040893 GRCh37 Chromosome 16, 50828168: 50828168

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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75 UMLS via Orphanet
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