Journal of the korean academy of Pediatric Dentistry (대한소아치과학회지)

Korean Academy of Pediatric Dentistry (대한소아치과학회)
권호 표지
DOI QR코드

DOI QR Code

Nevoid Basal Cell Carcinoma Syndrome : A Case Report

기저세포모반증후군 : 증례 보고

  • Lee, Yoonjung (Department of Pediatric Dentistry, Kyung Hee University Dental Hospital at Gangdong) ;
  • Park, Jaehong (Department of Pediatric Dentistry, School of Dentistry, Kyung Hee University) ;
  • Choi, Sungchul (Department of Pediatric Dentistry, School of Dentistry, Kyung Hee University) ;
  • Lee, Sooeon (Department of Pediatric Dentistry, School of Dentistry, Kyung Hee University) ;
  • Kim, Kwangchul (Department of Pediatric Dentistry, Kyung Hee University Dental Hospital at Gangdong)
  • 이윤정 (강동경희대학교병원 치과병원 소아치과) ;
  • 박재홍 (경희대학교 치과대학 소아치과학교실) ;
  • 최성철 (경희대학교 치과대학 소아치과학교실) ;
  • 이수언 (경희대학교 치과대학 소아치과학교실) ;
  • 김광철 (강동경희대학교병원 치과병원 소아치과)
  • Received : 2013.07.10
  • Accepted : 2013.10.29
  • Published : 2014.02.28
Download PDF
⟨ Previous Next ⟩

Abstract

Nevoid basal cell carcinoma syndrome(NBCCS) is a autosomal dominant disorder, and its major manifestations are multiple basal cell carcinoma, keratocystic odontogenic tumor, rib anomalies, palmer and plantar pits, calcification of the falx cerebri. Keratocystic odontogenic tumor(KCOT) is defined as intraosseous tumor of odontogenic origin with a characteristic lining of parakeratinized stratified squamous epithelium and potential aggressive behavior. We report a case of a 3-year-old patient with nevoid basal cell carcinoma syndrome who initially presented with unilocular keratocystic odontogenic tumor in maxillary canine region. Keratocystic odontogenic tumor was treated by enucleation, and periodic follow-up check will be required for early diagnosis of additional diseases related with this syndrome.

기저세포모반증후군은 상염색체 우성의 유전 질환이며 주요소견으로는 다발성 기저세포암, 악골의 다발성 각화낭종, 늑골이상, 손과 발바닥의 소와, 대뇌겸의 석회화 등이 있다. 기저세포모반증후군에서 호발 하는 각화낭성 치성종양은 치성기원의 골내종양으로 착각화된 중층 편평상피에 의해 특징적으로 이장되어 있고 공격적이고 침습적인 성향을 갖는 것으로 정의된다. 본 증례는 감별진단이 필요한 상악 견치부위의 단방성의 낭종을 주소로 내원한 환아가 조직검사를 통해 각화낭성 치성종양으로 밝혀진 후 임상적, 방사선학적 검사를 통해 기저세포모반 증후군으로 진단된 경우이다. 종양은 적출술로 치료되었고 증후군과 연관된 추가적인 질환들의 조기진단을 위해 정기적인 검진이 필요할 것이다.

Keywords

References

  1. Jarish W : Zur lehre von den autgeschwulsten. Archiv Jur Dermatologic und Syphilogic, 28: 163-222, 1894.
  2. Gorlin RJ, Goltz RW : Multiple nevoid basal cell epithelioma, jaw cysts and bifid rib syndrome. New Engl J Med, 262:908-12, 1960. https://doi.org/10.1056/NEJM196005052621803
  3. Kimonis VE, Goldstein AM, Bale SJ, et al. : Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet, 69:299-308,1997. https://doi.org/10.1002/(SICI)1096-8628(19970331)69:3<299::AID-AJMG16>3.0.CO;2-M
  4. Cohen MM Jr : Nevoid basal cell carcinoma syndrome: molecular biology and new hypotheses. Int J of Oral Maxillofac Surg, 28:216-223, 1999. https://doi.org/10.1016/S0901-5027(99)80142-8
  5. Philipsen HP : Keratocysts in the jaw. Tandlaegeblader,60:963-80, 1956.
  6. Gupta A, Rai B, Nair NA, Bhut MK : Keratocystic odontogenic tumor with impacted maxillary third molar involving the right maxillary antrum: an unusual case report. Indian J Dent Res, 22:157-60,2011. https://doi.org/10.4103/0970-9290.79984
  7. Madras J, Lapointe H: Keratocystic odontogenic tumour: reclassification of the odontogenic keratocyst from cyst to tumour. J Can Dent Assoc, 74:165-165, 2008
  8. Ali M, Baughman RA : Maxillary odontogenic keratocyst: a common and serious clinical misdiagnosis. J Am Dent Assoc, 134:877-83, 2003. https://doi.org/10.14219/jada.archive.2003.0286
  9. Ahn SG, Lim YS, Yoon JH, et al. : Nevoid basal cell carcinoma syndrome: a retrospective analysis of 33 affected Korean individuals. Int J Oral Maxillofac Surg, 33:458-462, 2004 https://doi.org/10.1016/j.ijom.2003.11.001
  10. Evans DGR, Ladusans EJ, Farndon PA, et al. : Complication of nevoid basal cell carcinoma syndrome: results of a population based study. J Med Genet, 30:460-4, 1993. https://doi.org/10.1136/jmg.30.6.460
  11. Lo Muzio L. Nocini P, Procaccini M, et al. : Early diagnosis of nevoid basal cell carcinoma syndrome. J Am Dent Assoc, 130: 669-74, 1999 https://doi.org/10.14219/jada.archive.1999.0276
  12. Bolbaran V, Martinez B, Rojas R : Odontogenic keratocysts. A retrospective study of 285 cases. (II. Histopathological aspects.) Med Oral, 5:338-44,2000.
  13. Stoelinga PJ : Long-term follow-up on keratocysts treated according to a defined protocol. Int J Oral Maxillofac Surg, 30:14-25, 2001. https://doi.org/10.1054/ijom.2000.0027
  14. Blanas N, Freund B, Schwartz M, Furst IM : Systemic review of the treatment and prognosis of the odontogenic keratocyst. Oral Surg Oral Med Oral Pathol Oral Radiol Endod, 90:553-8, 2000. https://doi.org/10.1067/moe.2000.110814
  15. Lo Muzio L : Nevoid basal cell carcinoma syndrome (Gorlin syndrome). Orphanet J Rare Dis, 3:32,2008. https://doi.org/10.1186/1750-1172-3-32
  16. Manfredi M, Vescovi P, Bonanini M, Porter S : Nevoid basal cell carcinoma syndrome: a review of the literature. Int J Oral Maxillofac Surg, 33:117-24, 2004. https://doi.org/10.1054/ijom.2003.0435
  17. Gutierrez MM, Mora RG : Nevoid basal-cell carcinoma. J Am Acad Dermatol, 15:1023-30, 1986. https://doi.org/10.1016/S0190-9622(86)70266-1
  18. Woolgar JA, Rippin JW, Browne RM : The odontogenic keratocyst and its occurance in the nevoid basal cell carcinoma syndrome. Oral Surd Oral Med Oral Pathol, 64:727-730, 1987. https://doi.org/10.1016/0030-4220(87)90176-9
  19. Kim HM, Lee CH, Kim SK, Sung TJ : Basal cell nevus syndrome (Gorlin syndrome) confirmed by PTCH mutations and deletions. Korean J Pediatr,50:789-793, 2007. https://doi.org/10.3345/kjp.2007.50.8.789