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Spiegler-Brooke syndrome(BRSS)

MedGen UID:
346703
Concept ID:
C1857941
Disease or Syndrome
Synonyms: Ancell-Spiegler cylindromas; BRSS
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
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).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Brooke-Spiegler syndrome (703531009); Spiegler-Brooke syndrome (703531009)
 
Gene (location): CYLD (16q12.1)
OMIM®: 605041
Orphanet: ORPHA79493

Definition

Brooke-Spiegler syndrome is an autosomal dominant disorder classically characterized by the appearance of multiple skin appendage tumors such as cylindroma, trichoepithelioma, and spiradenoma. These tumors are typically located in the head and neck region, appear in early adulthood, and gradually increase in size and number throughout life (Scheinfeld et al., 2003). Because BRSS, familial cylindromatosis, and MFT1 are allelic, 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 (Gerretsen et al., 1995; Lee et al., 2005; Bowen et al., 2005; Young et al., 2006; Saggar et al., 2008). Blake and Toro (2009) provided a review of Brooke-Spiegler syndrome and pathogenic mutations in the CYLD gene. [from OMIM]

Additional description

From GHR
Brooke-Spiegler syndrome is a condition involving multiple skin tumors that develop from structures associated with the skin (skin appendages), such as sweat glands and hair follicles. People with Brooke-Spiegler syndrome may develop several types of tumors, including growths called spiradenomas, trichoepitheliomas, and cylindromas. Spiradenomas develop in sweat glands. Trichoepitheliomas arise from hair follicles. The origin of cylindromas has been unclear; while previously thought to derive from sweat glands, they are now generally believed to begin in hair follicles. The tumors associated with Brooke-Spiegler syndrome 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 Brooke-Spiegler syndrome typically begin developing tumors in early adulthood. The tumors are most often found on the head and neck. They grow larger and increase in number over time. In severe cases, the tumors may get in the way of the eyes, ears, nose, or mouth and affect vision, hearing, or other functions. The tumors can be disfiguring and may contribute to depression or other psychological problems. For reasons that are unclear, females with Brooke-Spiegler syndrome are often more severely affected than males.  https://ghr.nlm.nih.gov/condition/brooke-spiegler-syndrome

Clinical features

Neoplasm
MedGen UID:
10294
Concept ID:
C0027651
Neoplastic Process
A general term for autonomous tissue growth in which the malignancy status has not been established and for which the transformed cell type has not been specifically identified.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpiegler-Brooke syndrome
Follow this link to review classifications for Spiegler-Brooke syndrome in Orphanet.

Recent clinical studies

Etiology

du Toit JP, Schneider JW, Visser WI, Jordaan HF
Int J Dermatol 2016 Mar;55(3):270-7. Epub 2015 Jul 28 doi: 10.1111/ijd.12855. PMID: 26220252
Li ZL, Guan HH, Xiao XM, Hui Y, Jia WX, Yu RX, Chen H, Li CR
Genet Mol Res 2014 Nov 14;13(4):9650-5. doi: 10.4238/2014.November.14.10. PMID: 25501176
Wu JW, Xiao SX, Huo J, An JG, Ren JW
Arch Dermatol Res 2014 Nov;306(9):857-60. Epub 2014 Sep 19 doi: 10.1007/s00403-014-1499-x. PMID: 25234269
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. PMID: 22077640
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

Farkas K, Deák BK, Sánchez LC, Martínez AM, Corell JJ, Botella AM, Benito GM, López RR, Vanecek T, Kazakov DV, Kromosoeto JN, van den Ouweland AM, Varga J, Széll M, Nagy N
BMC Genet 2016 Feb 9;17:36. doi: 10.1186/s12863-016-0346-9. PMID: 26861065Free PMC Article
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
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

Hunstig F, Schulz S, Nieten I, Froster U, Boltze C, Schliemann S, Hochhaus A, La Rosée P
J Cancer Res Clin Oncol 2016 Apr;142(4):845-8. Epub 2015 Dec 11 doi: 10.1007/s00432-015-2079-y. PMID: 26660106
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. 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. 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

Hunstig F, Schulz S, Nieten I, Froster U, Boltze C, Schliemann S, Hochhaus A, La Rosée P
J Cancer Res Clin Oncol 2016 Apr;142(4):845-8. Epub 2015 Dec 11 doi: 10.1007/s00432-015-2079-y. PMID: 26660106
Reuven B, Margarita I, Dov H, Ziad K
Am J Dermatopathol 2013 Jun;35(4):445-7. doi: 10.1097/DAD.0b013e31827132af. PMID: 23694822
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

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
Reuven B, Margarita I, Dov H, Ziad K
Am J Dermatopathol 2013 Jun;35(4):445-7. doi: 10.1097/DAD.0b013e31827132af. PMID: 23694822
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

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
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
Kazakov DV, Vanecek T, Zelger B, Carlson JA, Spagnolo DV, Schaller J, Nemcova J, Kacerovska D, Vazmitel M, Sangüeza M, Emberger M, Belousova I, Fernandez-Figueras MT, Kempf W, Meyer DR, Rütten A, Baltaci M, Michal M
Am J Dermatopathol 2011 May;33(3):251-65. doi: 10.1097/DAD.0b013e3181f7d373. PMID: 21389835
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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