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Cylindromatosis, familial

MedGen UID:
343593
Concept ID:
C1851526
Disease or Syndrome
Synonyms: ANCELL-SPIEGLER CYLINDROMAS; CYLINDROMAS, DERMAL ECCRINE; Turban tumor syndrome; Turban tumors
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
 
Gene: CYLD
Cytogenetic location: 16q12.1
OMIM: 132700

Definition

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. [from OMIM]

Additional description

From GHR
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.  http://ghr.nlm.nih.gov/condition/familial-cylindromatosis

Clinical features

Neoplasm of the skin
MedGen UID:
428780
Concept ID:
CN007095
Finding
A `neoplasm` (MPATH:218) of the `skin` (FMA:7163).
Neoplasm of the skin
MedGen UID:
428780
Concept ID:
CN007095
Finding
A `neoplasm` (MPATH:218) of the `skin` (FMA:7163).
Teleangiectasia of the skin
MedGen UID:
451896
Concept ID:
CN117478
Finding
Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.

Recent clinical studies

Etiology

Serracino HS, Kleinschmidt-Demasters BK
J Neuropathol Exp Neurol 2013 Jul;72(7):600-13. doi: 10.1097/NEN.0b013e318299c40f. PMID: 23771219
Kacerovska D, Vanecek T, Spagnolo DV, Bisceglia M, Zelger B, Michal M, Kazakov DV
Am J Dermatopathol 2013 Feb;35(1):19-24. doi: 10.1097/DAD.0b013e318255dd37. PMID: 22588548
Ponti G, Nasti S, Losi L, Pastorino L, Pollio A, Benassi L, Giudice S, Bertazzoni G, Veratti E, Azzoni P, Bianchi Scarrà G, Seidenari S
J Cutan Pathol 2012 Mar;39(3):366-71. Epub 2011 Nov 12 doi: 10.1111/j.1600-0560.2011.01813.x. [Epub ahead of print] PMID: 22077640
Humphreys T
Skinmed 2010 Sep-Oct;8(5):289-90. PMID: 21137639
Oosterkamp HM, Neering H, Nijman SM, Dirac AM, Mooi WJ, Bernards R, Brummelkamp TR
Br J Dermatol 2006 Jul;155(1):182-5. doi: 10.1111/j.1365-2133.2006.07224.x. PMID: 16792771

Diagnosis

Kim SR, Rees A, Mir MR, Rodriguez-Waitkins PM, Hsu S
J Am Acad Dermatol 2014 Feb;70(2):397-9. doi: 10.1016/j.jaad.2012.09.042. PMID: 24438968
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. [Epub ahead of print] PMID: 23260808
Wang N, Leeming R, Abdul-Karim FW
Acta Cytol 2004 Nov-Dec;48(6):853-8. PMID: 15581173
Poblete Gutiérrez P, Eggermann T, Höller D, Jugert FK, Beermann T, Grussendorf-Conen EI, Zerres K, Merk HF, Frank J
J Invest Dermatol 2002 Aug;119(2):527-31. doi: 10.1046/j.1523-1747.2002.01839.x. PMID: 12190880
Verhoef S, Schrander-Stumpel CT, Vuzevski VD, Tempelaars A, Jansen LA, Malfeyt GA, Ceelen TL, Lindhout D, Halley DJ, van den Ouweland AM
J Med Genet 1998 Oct;35(10):841-5. PMID: 9783709Free PMC Article

Therapy

Ponti G, Nasti S, Losi L, Pastorino L, Pollio A, Benassi L, Giudice S, Bertazzoni G, Veratti E, Azzoni P, Bianchi Scarrà G, Seidenari S
J Cutan Pathol 2012 Mar;39(3):366-71. Epub 2011 Nov 12 doi: 10.1111/j.1600-0560.2011.01813.x. [Epub ahead of print] PMID: 22077640
LoPiccolo MC, Sage RJ, Kouba DJ
Dermatol Surg 2011 Jul;37(7):1047-50. Epub 2011 Mar 9 doi: 10.1111/j.1524-4725.2011.01907.x. [Epub ahead of print] PMID: 21388481
Oosterkamp HM, Neering H, Nijman SM, Dirac AM, Mooi WJ, Bernards R, Brummelkamp TR
Br J Dermatol 2006 Jul;155(1):182-5. doi: 10.1111/j.1365-2133.2006.07224.x. PMID: 16792771

Prognosis

Kacerovska D, Vanecek T, Spagnolo DV, Bisceglia M, Zelger B, Michal M, Kazakov DV
Am J Dermatopathol 2013 Feb;35(1):19-24. doi: 10.1097/DAD.0b013e318255dd37. PMID: 22588548
Zaleski TA, Dabaghian L, Maghari A, Lambert WC
Skinmed 2011 Jul-Aug;9(4):252-4. PMID: 21980711
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
Oosterkamp HM, Neering H, Nijman SM, Dirac AM, Mooi WJ, Bernards R, Brummelkamp TR
Br J Dermatol 2006 Jul;155(1):182-5. doi: 10.1111/j.1365-2133.2006.07224.x. PMID: 16792771
Bignell GR, Warren W, Seal S, Takahashi M, Rapley E, Barfoot R, Green H, Brown C, Biggs PJ, Lakhani SR, Jones C, Hansen J, Blair E, Hofmann B, Siebert R, Turner G, Evans DG, Schrander-Stumpel C, Beemer FA, van Den Ouweland A, Halley D, Delpech B, Cleveland MG, Leigh I, Leisti J, Rasmussen S
Nat Genet 2000 Jun;25(2):160-5. doi: 10.1038/76006. PMID: 10835629

Clinical prediction guides

Kacerovska D, Vanecek T, Spagnolo DV, Bisceglia M, Zelger B, Michal M, Kazakov DV
Am J Dermatopathol 2013 Feb;35(1):19-24. doi: 10.1097/DAD.0b013e318255dd37. PMID: 22588548
Rajan N, Langtry JA, Ashworth A, Roberts C, Chapman P, Burn J, Trainer AH
Arch Dermatol 2009 Nov;145(11):1277-84. doi: 10.1001/archdermatol.2009.262. PMID: 19917957Free PMC Article
Bignell GR, Warren W, Seal S, Takahashi M, Rapley E, Barfoot R, Green H, Brown C, Biggs PJ, Lakhani SR, Jones C, Hansen J, Blair E, Hofmann B, Siebert R, Turner G, Evans DG, Schrander-Stumpel C, Beemer FA, van Den Ouweland A, Halley D, Delpech B, Cleveland MG, Leigh I, Leisti J, Rasmussen S
Nat Genet 2000 Jun;25(2):160-5. doi: 10.1038/76006. PMID: 10835629
Verhoef S, Schrander-Stumpel CT, Vuzevski VD, Tempelaars A, Jansen LA, Malfeyt GA, Ceelen TL, Lindhout D, Halley DJ, van den Ouweland AM
J Med Genet 1998 Oct;35(10):841-5. PMID: 9783709Free PMC Article
Biggs PJ, Wooster R, Ford D, Chapman P, Mangion J, Quirk Y, Easton DF, Burn J, Stratton MR
Nat Genet 1995 Dec;11(4):441-3. doi: 10.1038/ng1295-441. PMID: 7493027

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. [Epub ahead of print] PMID: 23260808
Verhoef S, Schrander-Stumpel CT, Vuzevski VD, Tempelaars A, Jansen LA, Malfeyt GA, Ceelen TL, Lindhout D, Halley DJ, van den Ouweland AM
J Med Genet 1998 Oct;35(10):841-5. PMID: 9783709Free PMC Article

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