U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Familial cylindromatosis

MedGen UID:
343593
Concept ID:
C1851526
Pathologic Function
Synonyms: ANCELL-SPIEGLER CYLINDROMAS; Turban tumor syndrome
SNOMED CT: Turban tumor (211710004)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): CYLD (16q12.1)
 
Monarch Initiative: MONDO:0007565
OMIM®: 132700
Orphanet: ORPHA211

Disease characteristics

Excerpted from the GeneReview: CYLD Cutaneous Syndrome
CYLD cutaneous syndrome (CCS) typically manifests in the second or third decade with the appearance of multiple skin tumors including cylindromas, spiradenomas, trichoepitheliomas, and rarely, membranous basal cell adenoma of the salivary gland. The first tumor typically develops at puberty and tumors progressively accumulate through adulthood. Females often have more tumors than males. Tumors typically arise on the scalp and face but can also arise on the torso and sun-protected sites, such as the genital and axillary skin. A minority of individuals develop salivary gland tumors. Rarely, pulmonary cylindromas can develop in large airways and compromise breathing. Although the tumors are usually benign, malignant transformation is recognized. [from GeneReviews]
Authors:
Anna Dubois  |  Neil Rajan   view full author information

Additional description

From OMIM
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.  http://www.omim.org/entry/132700

Clinical features

From HPO
Neoplasm of the skin
MedGen UID:
19993
Concept ID:
C0037286
Neoplastic Process
A tumor (abnormal growth of tissue) of the skin.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial cylindromatosis

Professional guidelines

PubMed

Nagy N, Farkas K, Kemény L, Széll M
Eur J Med Genet 2015 May;58(5):271-8. Epub 2015 Mar 14 doi: 10.1016/j.ejmg.2015.02.010. PMID: 25782638
Bowen S, Gill M, Lee DA, Fisher G, Geronemus RG, Vazquez ME, Celebi JT
J Invest Dermatol 2005 May;124(5):919-20. doi: 10.1111/j.0022-202X.2005.23688.x. PMID: 15854031

Suggested Reading

Recent clinical studies

Etiology

Srikantharajah T, Skovby F, Behrendt N, Jemec GBE, Saunte DM
Acta Dermatovenerol Alp Pannonica Adriat 2020 Sep;29(3):133-140. PMID: 32975300
Arefi M, Wilson V, Muthiah S, Zwolinski S, Bajwa D, Brennan P, Blasdale K, Bourn D, Burn J, Santibanez-Koref M, Rajan N
J Am Acad Dermatol 2019 Dec;81(6):1300-1307. Epub 2019 May 11 doi: 10.1016/j.jaad.2019.05.021. PMID: 31085270Free PMC Article
Brown SM, Arefi M, Stones R, Loo PS, Barnard S, Bloxham C, Stefanos N, Langtry JAA, Worthy S, Calonje E, Husain A, Rajan N
Br J Dermatol 2018 Sep;179(3):662-668. Epub 2018 May 29 doi: 10.1111/bjd.16573. PMID: 29569226Free PMC Article
Tolkachjov SN, Drage LA, Gibson LE, Camilleri MJ, Wetter DA
Am J Dermatopathol 2017 Dec;39(12):943-944. doi: 10.1097/DAD.0000000000000626. PMID: 29189319
Wall NR, Shi Y
Lancet 2003 Oct 25;362(9393):1401-3. doi: 10.1016/S0140-6736(03)14637-5. PMID: 14585643

Diagnosis

Arandia JOA, Magalhães TC, Gomes de Sá GM, Carneiro LH, Ramos-E-Silva M
Skinmed 2023;21(1):47-50. Epub 2023 Mar 29 PMID: 36987829
Riche M, Mathon B, Mokhtari K, Carpentier A, Amelot A
Neurochirurgie 2020 Feb;66(1):45-49. Epub 2019 Oct 18 doi: 10.1016/j.neuchi.2019.09.024. PMID: 31634508
Zaballos P, Gómez-Martín I, Martin JM, Bañuls J
Dermatol Clin 2018 Oct;36(4):397-412. Epub 2018 Aug 16 doi: 10.1016/j.det.2018.05.007. PMID: 30201149
Karimzadeh I, Namazi MR, Karimzadeh A
Acta Dermatovenerol Croat 2018 Jun;26(2):162-165. PMID: 29989874
Jordão C, de Magalhães TC, Cuzzi T, Ramos-e-Silva M
Int J Dermatol 2015 Mar;54(3):275-8. Epub 2014 Dec 16 doi: 10.1111/ijd.12600. PMID: 25515269

Therapy

Botsali A, Caliskan E
An Bras Dermatol 2022 Jul-Aug;97(4):541-543. Epub 2022 May 30 doi: 10.1016/j.abd.2020.12.014. PMID: 35654650Free PMC Article
Dreyfus I, Onnis G, Tournier E, Dereure O, Mazereeuw-Hautier J
Acta Derm Venereol 2019 Apr 1;99(4):454-455. doi: 10.2340/00015555-3116. PMID: 30653239
Baur V, Papadopoulos T, Kazakov DV, Agaimy A, Hartmann A, Isbary G, Wirtz RM, Schultz ES
Virchows Arch 2018 Aug;473(2):241-246. Epub 2018 Jun 22 doi: 10.1007/s00428-018-2397-y. PMID: 29934657
Tu JH, Teng JM
Dermatol Ther 2017 Mar;30(2) Epub 2017 Jan 30 doi: 10.1111/dth.12458. PMID: 28133868
McGee JS, Suchter MF, Milgraum SS
Skinmed 2016;14(6):467-468. Epub 2016 Dec 1 PMID: 28031139

Prognosis

Danis J, Kelemen E, Rajan N, Nagy N, Széll M, Ádám É
Exp Dermatol 2021 Nov;30(11):1705-1710. Epub 2021 May 17 doi: 10.1111/exd.14365. PMID: 33999445
Srikantharajah T, Skovby F, Behrendt N, Jemec GBE, Saunte DM
Acta Dermatovenerol Alp Pannonica Adriat 2020 Sep;29(3):133-140. PMID: 32975300
Arefi M, Wilson V, Muthiah S, Zwolinski S, Bajwa D, Brennan P, Blasdale K, Bourn D, Burn J, Santibanez-Koref M, Rajan N
J Am Acad Dermatol 2019 Dec;81(6):1300-1307. Epub 2019 May 11 doi: 10.1016/j.jaad.2019.05.021. PMID: 31085270Free PMC Article
van den Ouweland AM, Elfferich P, Lamping R, van de Graaf R, van Veghel-Plandsoen MM, Franken SM, Houweling AC
Fam Cancer 2011 Mar;10(1):127-32. doi: 10.1007/s10689-010-9393-y. PMID: 20972631Free PMC Article
Humphreys T
Skinmed 2010 Sep-Oct;8(5):289-90. PMID: 21137639

Clinical prediction guides

Srikantharajah T, Skovby F, Behrendt N, Jemec GBE, Saunte DM
Acta Dermatovenerol Alp Pannonica Adriat 2020 Sep;29(3):133-140. PMID: 32975300
Zaballos P, Gómez-Martín I, Martin JM, Bañuls J
Dermatol Clin 2018 Oct;36(4):397-412. Epub 2018 Aug 16 doi: 10.1016/j.det.2018.05.007. PMID: 30201149
Cüre K, Kocatürk E, Koku Aksu AE, Yüksel T, Leblebici C, Özekinci S, Özkaya Ö, Değirmentepe E
Clin Exp Dermatol 2017 Dec;42(8):906-909. Epub 2017 Oct 4 doi: 10.1111/ced.13223. PMID: 28976013
Reuter S, Maxeiner J, Meyer-Martin H, Michel A, Baars P, Bopp T, Waisman A, Reissig S, Wehler TC, Schild H, Taube C, Stassen M, Becker M
Cell Immunol 2016 Oct;308:27-34. Epub 2016 Jun 25 doi: 10.1016/j.cellimm.2016.06.003. PMID: 27372382
Nagy N, Farkas K, Kemény L, Széll M
Eur J Med Genet 2015 May;58(5):271-8. Epub 2015 Mar 14 doi: 10.1016/j.ejmg.2015.02.010. PMID: 25782638

Recent systematic reviews

Singh DD, Naujoks C, Depprich R, Schulte KW, Jankowiak F, Kübler NR, Handschel J
J Craniomaxillofac Surg 2013 Sep;41(6):516-21. Epub 2012 Dec 21 doi: 10.1016/j.jcms.2012.11.016. PMID: 23260808

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...