Journal of the Korean Association of Oral and Maxillofacial Surgeons

  • 제42권5호
  • /
  • Pages.284-287
  • /
  • 2016
  • /
  • 2234-7550(pISSN)
  • /
  • 2234-5930(eISSN)
대한구강악안면외과학회 (The Korean Association of Oral and Maxillofacial Surgeons)
권호 표지
DOI QR코드

DOI QR Code

Treatment of nevoid basal cell carcinoma syndrome: a case report

  • Seo, Dong-Uk (Department of Oral and Maxillofacial Surgery, School of Dentistry, Chosun University) ;
  • Kim, Su-Gwan (Department of Oral and Maxillofacial Surgery, School of Dentistry, Chosun University) ;
  • Oh, Ji-Su (Department of Oral and Maxillofacial Surgery, School of Dentistry, Chosun University) ;
  • You, Jae-Seek (Department of Oral and Maxillofacial Surgery, School of Dentistry, Chosun University)
  • 투고 : 2015.11.04
  • 심사 : 2015.12.29
  • 발행 : 2016.10.31
PDF 다운로드
⟨ 이전 논문 다음 논문 ⟩

초록

Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is characterized by various embryological deformities and carcinoma formation. It is caused by PTCHI gene mutations and is autosomal dominantly inherited. Some of the main symptoms of NBCCS are multiple basal cell carcinomas, multiple keratocystic odontogenic tumors (KCOTs) of the mandible, hyperkeratosis of the palmar and plantar, skeletal deformity, calcification of the falx cerebri, and facial defomity. Recurrent KCOT is the main symptom of NBCCS and is present in approximately 90% of patients. In NBCCS, KCOTs typically occur in multiples. KCOTs can be detected in patients under the age of 10, and new and recurring cysts develop until approximately the age of 30. The postoperation recurrence rate is approximately 60%. This case report presents a 14-year-old female patient with a chief complaint of a cyst found in the maxilla and mandible. The patient was diagnosed with NBCCS, and following treatment of marsupialization and enucleation, the clinical results were satisfactory.

키워드

참고문헌

  1. Gorlin RJ. Nevoid basal cell carcinoma syndrome. Dermatol Clin 1995;13:113-25.
  2. Manfredi M, Vescovi P, Bonanini M, Porter S. Nevoid basal cell carcinoma syndrome: a review of the literature. Int J Oral Maxillofac Surg 2004;33:117-24. https://doi.org/10.1054/ijom.2003.0435
  3. Bakaeen G, Rajab LD, Sawair FA, Hamdan MA, Dallal ND. Nevoid basal cell carcinoma syndrome: a review of the literature and a report of a case. Int J Paediatr Dent 2004;14:279-87. https://doi.org/10.1111/j.1365-263X.2004.00560.x
  4. 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;30:460-4. https://doi.org/10.1136/jmg.30.6.460
  5. Gorlin RJ, Goltz RW. Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib. A syndrome. N Engl J Med 1960;262:908-12. https://doi.org/10.1056/NEJM196005052621803
  6. Gorlin RJ. Nevoid basal cell carcinoma (Gorlin) syndrome: unanswered issues. J Lab Clin Med 1999;134:551-2. https://doi.org/10.1016/S0022-2143(99)90092-6
  7. Kakarantza-Angelopoulou E, Nicolatou O. Odontogenic keratocysts: clinicopathologic study of 87 cases. J Oral Maxillofac Surg 1990;48:593-9; discussion 599-600. https://doi.org/10.1016/S0278-2391(10)80472-0
  8. Kimonis VE, Goldstein AM, Pastakia B, Yang ML, Kase R, DiGiovanna JJ, et al. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet 1997;69:299-308. https://doi.org/10.1002/(SICI)1096-8628(19970331)69:3<299::AID-AJMG16>3.0.CO;2-M
  9. Goldstein AM, Pastakia B, DiGiovanna JJ, Poliak S, Santucci S, Kase R, et al. Clinical findings in two African-American families with the nevoid basal cell carcinoma syndrome (NBCC). Am J Med Genet 1994;50:272-81. https://doi.org/10.1002/ajmg.1320500311
  10. 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;33:458-62. https://doi.org/10.1016/j.ijom.2003.11.001
  11. Gorlin RJ. Nevoid basal-cell carcinoma syndrome. Medicine (Baltimore) 1987;66:98-113. https://doi.org/10.1097/00005792-198703000-00002
  12. Lo Muzio L. Nevoid basal cell carcinoma syndrome (Gorlin syndrome). Orphanet J Rare Dis 2008;3:32. https://doi.org/10.1186/1750-1172-3-32
  13. Littler BO. Gorlin's syndrome and the heart. Br J Oral Surg 1979;17:135-46. https://doi.org/10.1016/S0007-117X(79)80041-4
  14. Ozkan L, Aksoy S, Orhan K, Cetiner S, Uyanik LO, Buhara O, et al. Case report: multiple keratocystic odontogenic tumour in a non-syndromal pediatric patient. Eur J Paediatr Dent 2014;15(2 Suppl):241-4.
  15. Vedtofte P, Praetorius F. Recurrence of the odontogenic keratocyst in relation to clinical and histological features. A 20-year follow-up study of 72 patients. Int J Oral Surg 1979;8:412-20. https://doi.org/10.1016/S0300-9785(79)80079-4
  16. Donatsky O, Hjorting-Hansen E. Recurrence of the odontogenic keratocyst in 13 patients with the nevoid basal cell carcinoma syndrome. A 6-year follow-up. Int J Oral Surg 1980;9:173-9. https://doi.org/10.1016/S0300-9785(80)80016-0
  17. Kulkarni GH, Khaji SI, Metkari S, Kulkarni HS, Kulkarni R. Multiple keratocysts of the mandible in association with Gorlin-Goltz syndrome: a rare case report. Contemp Clin Dent 2014;5:419-21. https://doi.org/10.4103/0976-237X.137980

피인용 문헌

  1. Novel PTCH1 Gene Mutation in Nevoid Basal Cell Carcinoma Syndrome vol.29, pp.3, 2016, https://doi.org/10.1097/scs.0000000000004274