MCID: CYL004
MIFTS: 29

Cylindromatosis, Familial

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

Aliases & Classifications for Cylindromatosis, Familial

MalaCards integrated aliases for Cylindromatosis, Familial:

Name: Cylindromatosis, Familial 54 50 25 71 29 13 52
Familial Cylindromatosis 50 24 25 56
Turban Tumor Syndrome 50 25 56 71
Ancell-Spiegler Cylindromas 25 71 69
Dermal Eccrine Cylindroma 50 25
Dermal Eccrine Cylindromatosis 71
Eccrine Dermal Cylindroma 69
Turban Tumors 50
Cyld 50
Fcyl 71

Characteristics:

Orphanet epidemiological data:

56
familial cylindromatosis
Inheritance: Autosomal dominant;

OMIM:

54
Miscellaneous:
allelic disorder to multiple familial trichoepithelioma 1 (mft1, ) and brooke-spiegler syndrome (bss, )
onset in early adulthood

Inheritance:
autosomal dominant


HPO:

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


Classifications:



External Ids:

OMIM 54 132700
Orphanet 56 ORPHA211
MESH via Orphanet 43 C536611
UMLS via Orphanet 70 C1704217 C1851526

Summaries for Cylindromatosis, Familial

OMIM : 54
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 familial cylindromatosis, is related to brooke-spiegler syndrome and adenoiditis, and has symptoms including subcutaneous nodule, teleangiectasia of the skin and neoplasm of the skin. An important gene associated with Cylindromatosis, Familial is CYLD (CYLD Lysine 63 Deubiquitinase). The drugs Cyclophosphamide and Alkylating Agents have been mentioned in the context of this disorder. Affiliated tissues include skin and eye.

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.

NIH Rare Diseases : 50 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. last updated: 2/18/2015

UniProtKB/Swiss-Prot : 71 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.

Wikipedia : 72 1IXD, 1WHL, 1WHM,... more...

Related Diseases for Cylindromatosis, Familial

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

id Related Disease Score Top Affiliating Genes
1 brooke-spiegler syndrome 11.3
2 adenoiditis 10.1
3 spiradenoma 10.0
4 hidradenocarcinoma 9.8

Symptoms & Phenotypes for Cylindromatosis, Familial

Symptoms via clinical synopsis from OMIM:

54

Neoplasia:
cylindromas may show malignant transformation

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

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


Clinical features from OMIM:

132700

Human phenotypes related to Cylindromatosis, Familial:

56 32
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 subcutaneous nodule 56 32 hallmark (90%) Very frequent (99-80%) HP:0001482
2 teleangiectasia of the skin 56 Very frequent (99-80%)
3 neoplasm of the skin 32 HP:0008069
4 telangiectasia of the skin 32 hallmark (90%) HP:0100585

Drugs & Therapeutics for Cylindromatosis, Familial

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

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

Interventional clinical trials:


id 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:

id Genetic test Affiliating Genes
1 Cylindromatosis, Familial 29
2 Familial Cylindromatosis 24 CYLD

Anatomical Context for Cylindromatosis, Familial

MalaCards organs/tissues related to Cylindromatosis, Familial:

39
Skin, Eye

Publications for Cylindromatosis, Familial

Articles related to Cylindromatosis, Familial:

id Title Authors Year
1
A new hereditary cylindromatosis family associated with CYLD1 on chromosome 16. ( 10480375 )
1999

Variations for Cylindromatosis, Familial

ClinVar genetic disease variations for Cylindromatosis, Familial:

6 (show all 23)
id Gene Variation Type Significance SNP ID Assembly Location
1 CYLD CYLD, 1-BP DUP, 561T duplication Pathogenic
2 CYLD CYLD, 4-BP DEL, 1950-1GATA deletion Pathogenic
3 CYLD CYLD, NT2469, G-A, +1 single nucleotide variant Pathogenic
4 CYLD NM_015247.2(CYLD): c.2272C> T (p.Arg758Ter) single nucleotide variant Pathogenic rs121908388 GRCh37 Chromosome 16, 50826538: 50826538
5 CYLD CYLD, 1-BP DEL, 2253G deletion Pathogenic
6 CYLD NM_015247.2(CYLD): c.2806C> T (p.Arg936Ter) single nucleotide variant Pathogenic rs121908390 GRCh37 Chromosome 16, 50830354: 50830354
7 CYLD NM_015247.2(CYLD): c.831_834delTGGA (p.Asp277Glufs) deletion Pathogenic rs886040868 GRCh37 Chromosome 16, 50788253: 50788256
8 CYLD NM_015247.2(CYLD): c.911dupC (p.Ala305Serfs) duplication Pathogenic rs886040869 GRCh37 Chromosome 16, 50788333: 50788333
9 CYLD NM_015247.2(CYLD): c.987_988dupAG (p.Gly330Glufs) duplication Pathogenic rs886040871 GRCh38 Chromosome 16, 50776243: 50776244
10 CYLD NM_015247.2(CYLD): c.1112C> A (p.Ser371Ter) single nucleotide variant Pathogenic rs886040872 GRCh38 Chromosome 16, 50777915: 50777915
11 CYLD NM_015247.2(CYLD): c.1327C> T (p.Gln443Ter) single nucleotide variant Pathogenic rs764952788 GRCh38 Chromosome 16, 50779853: 50779853
12 CYLD NM_015247.2(CYLD): c.1363C> T (p.Gln455Ter) single nucleotide variant Pathogenic rs886040873 GRCh37 Chromosome 16, 50813800: 50813800
13 CYLD NM_015247.2(CYLD): c.1658_1661delATCA (p.Asn553Argfs) deletion Pathogenic rs886040876 GRCh38 Chromosome 16, 50781385: 50781388
14 CYLD NM_015247.2(CYLD): c.1771A> T (p.Lys591Ter) single nucleotide variant Pathogenic rs886040879 GRCh38 Chromosome 16, 50782411: 50782411
15 CYLD NM_015247.2(CYLD): c.1950-2_1953delAGATAT deletion Pathogenic rs886040882 GRCh38 Chromosome 16, 50786853: 50786858
16 CYLD NM_015247.2(CYLD): c.2242-2A> G single nucleotide variant Pathogenic rs886040886 GRCh37 Chromosome 16, 50826506: 50826506
17 CYLD NM_015247.2(CYLD): c.2291_2295delAACTA (p.Lys764Ilefs) deletion Pathogenic rs886040887 GRCh37 Chromosome 16, 50826557: 50826561
18 CYLD NM_015247.2(CYLD): c.2299A> T (p.Lys767Ter) single nucleotide variant Pathogenic rs886040888 GRCh37 Chromosome 16, 50826565: 50826565
19 CYLD NM_015247.2(CYLD): c.2350+1G> T single nucleotide variant Pathogenic rs886040890 GRCh37 Chromosome 16, 50826617: 50826617
20 CYLD NM_015247.2(CYLD): c.2390_2391delAT (p.Tyr797Terfs) deletion Pathogenic rs886040891 GRCh37 Chromosome 16, 50827496: 50827497
21 CYLD NM_015247.2(CYLD): c.2406_2407delCT (p.Cys802Terfs) deletion Pathogenic rs886040892 GRCh37 Chromosome 16, 50827512: 50827513
22 CYLD NM_015247.2(CYLD): c.2515delT (p.Ser839Hisfs) deletion Pathogenic rs886040893 GRCh38 Chromosome 16, 50794257: 50794257
23 CYLD NM_015247.2(CYLD): c.2569C> T (p.Gln857Ter) single nucleotide variant Pathogenic rs886040894 GRCh37 Chromosome 16, 50828222: 50828222

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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11 DGIdb
16 ExPASy
18 FMA
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30 HGMD
31 HMDB
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33 ICD10
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67 TGDB
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70 UMLS via Orphanet
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