Maxillofacial Plastic and Reconstructive Surgery

Korean Association of Maxillofacial Plastic and Reconstructive Surgeons (대한악안면성형재건외과학회)
권호 표지

CASE REPORT OF MULTIPLE ODONTOGENIC KERATOCYSTS WITH BASAL CELL NEVUS SYNDROME

기저세포모반증후군과 연관된 다발성 치성각화낭종의 치험 2례

  • Park, Ji-Hyun (Department of Oral and Maxillofacial Surgery, College of Medicine, Inje University Sanggye Paik Hospital) ;
  • Yoon, Kyu-Ho (Department of Oral and Maxillofacial Surgery, College of Medicine, Inje University Sanggye Paik Hospital) ;
  • Park, Kwan-Soo (Department of Oral and Maxillofacial Surgery, College of Medicine, Inje University Sanggye Paik Hospital) ;
  • Cheong, Jeong-Kwon (Department of Oral and Maxillofacial Surgery, College of Medicine, Inje University Sanggye Paik Hospital) ;
  • Shin, Jae-Myung (Department of Oral and Maxillofacial Surgery, College of Medicine, Inje University Sanggye Paik Hospital) ;
  • Choi, Mun-Kyung (Department of Oral and Maxillofacial Surgery, College of Medicine, Inje University Sanggye Paik Hospital)
  • 박지현 (인제대학교 의과대학 상계백병원 구강악안면외과학교실) ;
  • 윤규호 (인제대학교 의과대학 상계백병원 구강악안면외과학교실) ;
  • 박관수 (인제대학교 의과대학 상계백병원 구강악안면외과학교실) ;
  • 정정권 (인제대학교 의과대학 상계백병원 구강악안면외과학교실) ;
  • 신재명 (인제대학교 의과대학 상계백병원 구강악안면외과학교실) ;
  • 최문경 (인제대학교 의과대학 상계백병원 구강악안면외과학교실)
  • Published : 2008.03.31
Download PDF
⟨ Previous Next ⟩

Abstract

Basal cell nevus syndrome, also known as Gorlin-Goltz syndrome, is a hereditary condition transmitted as an autosomal dominant trait that exhibits high penetrance and variable expressivity. It is an ecto-mesodermal polydysplasia with numerous manifestations that affect multiple organs. Odontogenic keratocysts, palmar and plantar pits, and hypertelorism are the most frequently observed anomalies. Currently there are new lines of investigation based on biomolecular studies, which aim at identifying the molecules responsible for these cysts and thus early allowing an early diagnosis of these patients. We report two cases of multiple odontogenic keratocysts associated with basal cell nevus syndrome.

Keywords

References

  1. Shafer, Hine, Levy : A Textbook of Oral Pathology, 4th ed. Saunders, 1983 p.273
  2. Gorlin RJ, and Goltz RW : Multiple nevoid basal-cell epithelioma, Jaw cysts and bifid rib. N eng J Med 262 : 908, 1960 https://doi.org/10.1056/NEJM196005052621803
  3. Howell JB, Anderson DE : "The basal-cell nevus"by Howell and Caro, January 1959. Commentary: The nevoid basal cell carcinoma syndrome. Arch Dermatol 188 : 824, 1982
  4. Gailani MR, Bale SJ, Leffell DJ et al : Development defects in Gorlin syndrome related a putative tumor suppressor gene on chromosome 9. Cell 69 : 111, 1992 https://doi.org/10.1016/0092-8674(92)90122-S
  5. Johnson RL, Rothman AL, Xie J et al : Human homolog of patched, a candidate gene for the basal cell nevus syndrome Science 272 : 1668, 1996 https://doi.org/10.1126/science.272.5268.1668
  6. Gorlin RJ : Nevoid basal cell carcinoma (Gorlin) syndrome: unanswered issues. J Lab Clin Med 134 : 551, 1999. https://doi.org/10.1016/S0022-2143(99)90092-6
  7. Soekarman D, Fryns JP, Casaer P et al : Increased head circumference and facial cleft as presenting signs of the nevoid basal-cell carcinoma syndrome. Genetic Counseling 2 : 153, 1991
  8. Lo Muzio L, Nocini P, Bucci P et al : Early diagnosis of nevoid basal cell carcinoma syndrome. J Am Dent Assoc 130 : 669, 1999 https://doi.org/10.14219/jada.archive.1999.0276
  9. Johnson RL, Rothman AL, Xie J et al : Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science 272 : 1668, 1996 https://doi.org/10.1126/science.272.5268.1668
  10. Wicking C, Bale AE : Molecular basis of the nevoid basal cell carcinoma syndrome. Current Opinion in Pediatrics 9 : 630, 1997 https://doi.org/10.1097/00008480-199712000-00013
  11. Zedan W, Robinson PA, Markham AF et al : Expression of the Sonic Hedgehog receptor "PATHCED"in Basal cell carcinomas and odontogenic keratocysts. J Pathol 194 : 473, 2001 https://doi.org/10.1002/path.940
  12. Woolgar JA, Rippini JW, Browne RM : A comparative histological study of odontogenic keratocyst in basal cell nevus syndrome and control patients. J Oral Pathol 16 : 75, 1987 https://doi.org/10.1111/j.1600-0714.1987.tb00691.x
  13. Pogrel MA, Smichdt BL, eds. Oral and maxillofacial surgery clinics of North America. Philadelphia: WBS Saunders Company, 2003, p.383
  14. Addessi G, Del Vecchio A, Maggiore C et al : Gorlin's syndrome. Case report. Minerva Stomatol 51 : 145, 2002
  15. Totten JR : The multiple nevoid basal cell carcinoma syndrome. Report of its occurrence in four generations of a family. Cancer 46 : 1456, 1980 https://doi.org/10.1002/1097-0142(19800915)46:6<1456::AID-CNCR2820460627>3.0.CO;2-L
  16. Evans DG, Ladusans EJ, Rimmer S et al : Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. J Med Genet 30 : 460, 1993 https://doi.org/10.1136/jmg.30.6.460
  17. Kimonis VE, Goldstein AM, Pastakia B et al : Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet 69 : 299, 1997 https://doi.org/10.1002/(SICI)1096-8628(19970331)69:3<299::AID-AJMG16>3.0.CO;2-M
  18. Reisner KR, Riva RD, Cobb RJ et al : Treating nevoid basal cell carcinoma syndrome. J Am Den Assoc 125 : 1007, 1994 https://doi.org/10.14219/jada.archive.1994.0202
  19. Bale AE : The nevoid basal cell carcinoma syndrome: genetics and mechanism of carcinogenesis. Cancer Invest 15 : 180, 1997 https://doi.org/10.3109/07357909709115772
  20. Zerin JM, Ainge G : Facial deformity and rash. Investigative Radiology 24 : 159, 1989 https://doi.org/10.1097/00004424-198902000-00015
  21. Hogan RE, Tress B, Gonzales MF et al : Epilepsy in the nevoid basal- cell carcinoma syndrome (Gorlin syndrome): report of a case due to a focal neuronal heterotopia. Neurology 46 : 574, 1996 https://doi.org/10.1212/WNL.46.2.574
  22. Schoenberg BS : Multiple primary neoplasm and nervous system. Cancer 40 : 1961, 1977 https://doi.org/10.1002/1097-0142(197710)40:4+<1961::AID-CNCR2820400831>3.0.CO;2-G
  23. O'Malley S, Weitman D, Olding M et al : Multiple neoplasms following craniospinal irradiation for medulloblastoma in a patient with nevoid basal cell carcinoma syndrome. Case report. Journal of Neurosurgery 86 : 286, 1997 https://doi.org/10.3171/jns.1997.86.2.0286