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Nevoid basal cell carcinoma syndrome: a case report and literature review

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Pages 27-35 | Received 28 Jun 2021, Accepted 06 Sep 2021, Published online: 05 Oct 2021

References

  • Gorlin RJ, Goltz RW. Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib: a syndrome. N Eng J Med. 1960 May 5;262(18):908–12. doi:10.1056/NEJM196005052621803. Cited in PubMed. PMID: 13851319.
  • Kimonis VE, Goldstein AM, Pastakia B, Yang ML, Kase R, DiGiovanna JJ, Bale AE, Bale SJ. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet. 1997 Mar 31;69(3):299–308. doi: 10.1002/(SICI)1096-8628(19970331)69:3<299::AID-AJMG16>3.0.CO;2-M.
  • Evans DG, Ladusans EJ, Rimmer S, Burnell LD, Thakker N, Farndon PA. Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. J Med Genet. 1993 Jun 1;30(6):460–64. doi:10.1136/jmg.30.6.460. Cited in PubMed. PMID: 8326488.
  • Lo Muzio L, Nocini PF, Savoia A, Consolo U, Procaccini M, Zelante L, Pannone G, Bucci P, Dolci M, Bambini F, et al. Nevoid basal cell carcinoma syndrome. Clinical findings in 37 Italian affected individuals. Clin Genet. 1999 Jan;55(1):34–40. doi:10.1034/j.1399-0004.1999.550106.x. Cited in Pubmed; PMID: 10066029.
  • Farndon PA, Del Mastro RG, Kilpatrick MW, Evans DR. Location of gene for Gorlin syndrome. The Lancet. 1992 Mar 7;339(8793):581–82. doi:10.1016/0140-6736(92)90868-4. Cited in PubMed. PMID: 1347096.
  • Shanley S, Ratcliffe J, Hockey A, Haan E, Oley C, Ravine D, Martin N, Wicking C, Chenevix‐Trench G. Nevoid basal cell carcinoma syndrome: review of 118 affected individuals. Am J Med Genet. 1994 Apr 15;50(3):282–90. doi:10.1002/ajmg.1320500312. Cited in Pubmed; PMID: 8042673.
  • Endo M, Fujii K, Sugita K, Saito K, Kohno Y, Miyashita T. Nationwide survey of nevoid basal cell carcinoma syndrome in Japan revealing the low frequency of basal cell carcinoma. Am J Med Genet A. 2012 Feb;158(2):351–57. doi:10.1002/ajmg.a.34421. Cited in PubMed. PMID: 22246785.
  • Bree AF, Shah MR, BCNS Colloquium Group. Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS). Am J Med Genet A. 2011 Sep:155(9):2091–97. doi:10.1002/ajmg.a.34128. Cited in PubMed. PMID: 21834049.
  • Bresler SC, Padwa BL, Granter SR. Nevoid basal cell carcinoma syndrome (Gorlin syndrome). Head Neck Pathol. 2016 Jun 1;10(2):119–24. doi:10.1007/s12105-016-0706-9. Cited in PubMed. PMID: 26971503.
  • Epstein EH. Basal cell carcinomas: attack of the hedgehog. Nat Rev Cancer. 2008 Oct 8;8(10):743–54. doi:10.1038/nrc2503. Cited in PubMed. PMID: 18813320.
  • Farley ND, Sassalos TM, Ober MD. Basal cell nevus syndrome presenting as epiretinal membrane and myelinated nerve fiber layer. Retin Cases Brief Rep. 2017 Jan 1;11:S151–4. doi:10.1097/ICB.0000000000000388. Cited in PubMed. PMID: 27533646.
  • Smith MJ, Beetz C, Williams SG, Bhaskar SS, O’Sullivan J, Anderson B, Daly SB, Urquhart JE, Bholah Z, Oudit D, et al. Germline mutations in SUFU cause gorlin syndrome–associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations. J Clin Oncol. 2014;32:4155–61. doi:10.1200/JCO.2014.58.2569. Cited in Pubmed; PMID: 25403219.
  • Evans DG, Oudit D, Smith MJ, Rutkowski D, Allan E, Newman WG, Lear JT. First evidence of genotype–phenotype correlations in Gorlin syndrome. J Med Genet. 2017 Aug 1;54(8):530–36. doi:10.1136/jmedgenet-2017-104669. Cited in PubMed. PMID: 28596197.
  • Kiwilsza M, Sporniak-Tutak K. Gorlin-Goltz syndrome–a medical condition requiring a multidisciplinary approach. Medi Sci monitor. 2012;18(9):RA145. doi:10.12659/msm.883341. Cited in Pubmed; PMID: 22936202.
  • Chen JJ, Sartori J, Aakalu VK, Setabutr P. Review of ocular manifestations of nevoid basal cell carcinoma syndrome: what an ophthalmologist needs to know. Middle East Afr J Ophthalmol. 2015 Oct;22(4):421. doi:10.4103/0974-9233.167815. Cited in PubMed. PMID: 26692711.
  • Witmanowski H, Szychta P, Błochowiak K, Jundziłł A, Czajkowski R. Basal cell nevus syndrome (Gorlin-Goltz syndrome): genetic predisposition, clinical picture and treatment. Adv Dermatol Allergology/Post?py Dermatologii I Alergologii. 2017 Aug;34(4):381. doi:10.5114/ada.2017.69323. Cited in Pubmed; PMID: 28951717.
  • Belliveau MJ, Coupal DJ, Brownstein S, Jordan DR, Prokopetz R. Infundibulocystic basal cell carcinoma of the eyelid in basal cell nevus syndrome. Ophthal Plast Reconstr Surg. 2010 May 1;26(3):147–52. doi:10.1097/IOP.0b013e3181b80b65. Cited in PubMed. PMID: 20489535.
  • Honavar SG, Shields JA, Shields CL, Eagle JRC, Demirci H, Mahmood EZ. Basal cell carcinoma of the eyelid associated with Gorlin-Goltz syndrome. Ophthalmology. 2001 Jun 1;108(6):1115–23. doi:10.1016/s0161-6420(01)00560-7. Cited in Pubmed; PMID: 11382639.
  • Sun MT, Rajak S, James C, Huilgol SC, Selva D. Infundibulocystic basal cell carcinoma of the eyelid. Australas J Dermatol. 2017 Jun 28;58(3):e158–9. doi:10.1111/ajd.12539. Cited in Pubmed; PMID: 28660686.
  • MacDonald DS. A systematic review of the literature of nevoid basal cell carcinoma syndrome affecting East Asians and North Europeans. Oral Surg Oral Med Oral Pathol Oral Radiol. 2015 Sep 1;120(3):396–407. doi:10.1016/j.oooo.2015.05.024. Cited in Pubmed; PMID: 26297395.
  • Moramarco A, Himmelblau E, Miraglia E, Mallone F, Roberti V, Franzone F, Iacovino C, Giustini S, Lambiase A. Ocular manifestations in Gorlin-Goltz syndrome. Orphanet J Rare Dis. 2019 Dec;14(1):1–7. doi:10.1186/s13023-019-1190-6. Cited in Pubmed; PMID: 31533758.
  • Taylor SF, Cook AE, Leatherbarrow B. Review of patients with basal cell nevus syndrome. Ophthal Plast Reconstr Surg. 2006 Jul 1;22(4):259–65. doi:10.1097/01.iop.0000225421.60264.68. Cited in Pubmed; PMID: 16855496.
  • Ahn SG, Lim YS, Kim DK, Kim SG, Lee SH, Yoon JH. Nevoid basal cell carcinoma syndrome: a retrospective analysis of 33 affected Korean individuals. Int J Oral Maxillofac Surg. 2004 Jul 1;33(5):458–62. doi:10.1016/j.ijom.2003.11.001. Cited in PubMed. PMID: 15183409.
  • Kodama T, Hayasaka S, Setogawa T. Myelinated retinal nerve fibers: prevalence, location and effect on visual acuity. Ophthalmologica. 1990;200(2):77–83. doi:10.1159/000310082. Cited in Pubmed; PMID: 2338989.
  • Ramkumar HL, Verma R, Ferreyra HA, Robbins SL. Myelinated retinal nerve fiber layer (RNFL): a comprehensive review. Int Ophthalmol Clin. 2018 Oct 1;58(4):147–56. doi:10.1097/IIO.0000000000000239. Cited in Pubmed; PMID: 30239369.
  • De Jong PT, Bistervels B, Cosgrove J, De Grip G, Leys A, Goffin M. Medullated nerve fibers: a sign of multiple basal cell nevi (Gorlin’s) syndrome. Arch Ophthalmol. 1985 Dec 1;103(12):1833–36. doi:10.1001/archopht.1985.01050120067022. Cited in PubMed. PMID: 4074174.
  • Black GC, Mazerolle CJ, Wang Y, Campsall KD, Petrin D, Leonard BC, Damji KF, Evans DG, McLeod D, Wallace VA. Abnormalities of the vitreoretinal interface caused by dysregulated Hedgehog signaling during retinal development. Hum Mol Genet. 2003 Dec 15;12(24):3269–76. doi:10.1093/hmg/ddg356. Cited in PubMed. PMID: 14570707.
  • Scott A, Strouthidis NG, Robson AG, Forsyth J, Maher ER, Schlottmann PG, Michaelides M. Bilateral epiretinal membranes in Gorlin syndrome associated with a novel PTCH mutation. Am J Ophthalmol. 2007 Feb 1;143(2):346–48. doi:10.1016/j.ajo.2006.09.022. Cited in Pubmed; PMID: 17258529.
  • Titinchi F, Nortje CJ, Parker ME, van Rensburg LJ. Nevoid basal cell carcinoma syndrome: a 40‐year study in the South African population. J Oral Pathol Med. 2013 Feb;42(2):162–65. doi:10.1111/j.1600-0714.2012.01188.x. Cited in Pubmed; PMID: 22742575.
  • Rehefeldt-Erne S, Nägeli MC, Winterton N, Felderer L, Weibel L, Hafner J, Dummer R. Nevoid basal cell carcinoma syndrome: report from the Zurich nevoid basal cell carcinoma syndrome cohort. Dermatology. 2016;232(3):285–92. doi:10.1159/000444792. Cited in Pubmed; PMID: 27054559.
  • Shimada Y, Morita KI, Kabasawa Y, Taguchi T, Omura K. Clinical manifestations and treatment for keratocystic odontogenic tumors associated with nevoid basal cell carcinoma syndrome: a study in 25 J apanese patients. J Oral Pathol Med. 2013 Mar;42(3):275–80. doi:10.1111/j.1600-0714.2012.01202.x. Cited in Pubmed; PMID: 22882291.
  • Kimonis VE, Singh KE, Zhong R, Pastakia B, DiGiovanna JJ, Bale SJ. Clinical and radiological features in young individuals with nevoid basal cell carcinoma syndrome. Genet Med. 2013 Jan;15(1):79–83. doi:10.1038/gim.2012.96. Cited in Pubmed; PMID: 22918513.
  • Wright JM, Vered M. Update from the 4th edition of the World Health Organization classification of head and neck tumours: odontogenic and maxillofacial bone tumors. Head Neck Pathol. 2017 Mar 1;11(1):68–77. doi:10.1007/s12105-017-0794-1. Cited in PubMed. PMID: 28247226.
  • Telfer NR, Colver GB, Bowers PW. Guidelines for the management of basal cell carcinoma. Br J Dermatol. 1999 Sep 1;141(3):415–23. doi:10.1046/j.1365-2133.1999.03033.x. Cited in Pubmed; PMID: 10583044.
  • Basset‐Seguin N, Bissonnette R, Girard C, Haedersdal M, Lear JT, Paul C, Piaserico S. Consensus recommendations for the treatment of basal cell carcinomas in G orlin syndrome with topical methylaminolaevulinate‐photodynamic therapy. J Eur Acad Dermatol Venereology. 2014 May;28(5):626–32. doi:10.1111/jdv.12150. Cited in PubMed. PMID: 23581795.
  • Cirrone F, Harris CS. Vismodegib and the hedgehog pathway: a new treatment for basal cell carcinoma. Clin Ther. 2012 Oct 1;34(10):2039–50. doi:10.1016/j.clinthera.2012.08.011. Cited in PubMed. PMID: 23036338.
  • Ojevwe FO, Ojevwe CD, Zacny JP, Dudek AZ, Lin A, Kohlitz P. Treatment of multiple unresectable basal cell carcinomas from Gorlin-Goltz syndrome: a case report. Anticancer Res. 2015 Mar 1;35(3):1777–81. Cited in Pubmed; PMID: 25750342.
  • Tang JY, Mackay-Wiggan JM, Aszterbaum M, Yauch RL, Lindgren J, Chang K, Coppola C, Chanana AM, Marji J, Bickers DR, et al. Inhibiting the hedgehog pathway in patients with the basal-cell nevus syndrome. N Eng J Med. 2012 Jun 7;366(23):2180–88. doi:10.1056/NEJMoa1113538. Cited in PubMed. PMID: 22670904.
  • Neville BW, Damm DD, Allen CM, Chi AC. Oral and maxillofacial pathology. 4th ed. Elsevier Health Sci 2015 May 13;636–43.
  • Carlson ER, Oreadi D, McCoy JM. Nevoid basal cell carcinoma syndrome and the keratocystic odontogenic tumor. J Oral Maxillofacial Surg. 2015 Dec 1;73(12):S77–86. doi:10.1016/j.joms.2015.04.037. Cited in PubMed. PMID: 26608157.
  • Antonoglou GN, Sándor GK, Koidou VP, Papageorgiou SN. Non-syndromic and syndromic keratocystic odontogenic tumors: systematic review and meta-analysis of recurrences. J Cranio-Maxillofacial Surg. 2014 Oct 1;42(7):e364–71. doi:10.1016/j.jcms.2014.03.020. Cited in PubMed. PMID: 24815763.
  • Al-Moraissi EA, Dahan AA, Alwadeai MS, Oginni FO, Al-Jamali JM, Alkhutari AS, Al-Tairi NH, Almaweri AA, Al-Sanabani JS. What surgical treatment has the lowest recurrence rate following the management of keratocystic odontogenic tumor?: a large systematic review and meta-analysis. J Cranio-Maxillofacial Surg. 2017 Jan 1;45(1):131–44. doi:10.1016/j.jcms.2016.10.013. Cited in PubMed. PMID: 27955959.
  • Pogrel MA. The keratocystic odontogenic tumour (KCOT)—an odyssey. Int J Oral Maxillofac Surg. 2015 Dec 1;44(12):1565–68. doi:10.1016/j.ijom.2015.03.008. Cited in Pubmed; PMID: 26003518.

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