Journal of the korean academy of Pediatric Dentistry (대한소아치과학회지)

Korean Academy of Pediatric Dentistry (대한소아치과학회)
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CLINICAL REPORT OF NEUROFIBROMATOSIS TYPE 1 PATIENT

제1형 신경섬유종증 환아의 임상적 치험례

  • Lee, Dae-Woo (Department of Pediatric Dentistry and Institute of Oral Bioscience, School of Dentistry, Chonbuk National University) ;
  • Yang, Yeon-Mi (Department of Pediatric Dentistry and Institute of Oral Bioscience, School of Dentistry, Chonbuk National University) ;
  • Kim, Jae-Gon (Department of Pediatric Dentistry and Institute of Oral Bioscience, School of Dentistry, Chonbuk National University) ;
  • Baik, Byeong-Ju (Department of Pediatric Dentistry and Institute of Oral Bioscience, School of Dentistry, Chonbuk National University) ;
  • So, Yu-Ryeo (Department of Pediatric Dentistry and Institute of Oral Bioscience, School of Dentistry, Chonbuk National University)
  • 이대우 (전북대학교 치과대학 소아치과학교실 및 구강생체과학연구소) ;
  • 양연미 (전북대학교 치과대학 소아치과학교실 및 구강생체과학연구소) ;
  • 김재곤 (전북대학교 치과대학 소아치과학교실 및 구강생체과학연구소) ;
  • 백병주 (전북대학교 치과대학 소아치과학교실 및 구강생체과학연구소) ;
  • 소유려 (전북대학교 치과대학 소아치과학교실 및 구강생체과학연구소)
  • Received : 2010.12.10
  • Accepted : 2011.03.21
  • Published : 2011.05.31
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Abstract

Neurofibromatosis is known as an autosomal dominant disorder caused by a mutation of a tumor suppressor gene on the long arm of chromosome 17 that affects the bone, nervous system, soft tissue, skin, and endocrine system. The most characteristic finding, which is helpful for clinical diagnosis as well, is the neurofibroma. Likewise brown macules called Cafe-au-lait spots with color of caffee latte, and Lisch nodules found around iris are useful to diagnose the disease. As known, the possibility of the neurofibromatosis occurred in oral cavity is relatively rare, and in most of cases it is related to soft tissue changes with single or multiple neurofibromatosis. The purpose of this report is to present characteristic dental findings which were found in a 4-year-old male and his father, both diagnosed as neurofibromatosis at Chonbuk National University Hospital before visiting our department, pediatric dentistry.

신경섬유종증(neurofibromatosis)은 골조직, 신경계, 연부조직, 피부 및 내분비계 장애를 수반하며 상염색체 우성을 보이는 유전질환으로 제17번 염색체의 장완에 위치한 종양 억제 유전자의 변성에 의해 발생한다. 임상적으로 진단에 도움을 주는 특정적인 소견들 중 가장 중요한 것은 신경섬유종(neurofibroma)이고 그 외에 밀크 커피색을 띠는 밀크 커피색 반점(cafe-au-lait spot)과, 홍채결절(Lisch nodule)이 있다. 신경섬유종증이 비교적 구강 내에서 발현하는 비율은 비교적 낮은 것으로 알려져 있고, 대부분의 경우 단독 혹은 다수의 신경섬유종이 존재하는 연조직 변화와 관련되어 있다. 최근 전북대학교 병원에서 제1 형 신경섬유종증으로 진단받고, 치아우식증 치료를 위해 본원 소아치과에 내원한 만 4세의 남아와 그의 아버지에게서 제1형 선경섬유종증의 특징적인 치과적 소견을 발견하였기에 치료 경과와 함께 보고하는 바이다.

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References

  1. Hudson SM, Compston DA, Clark P, et al. : A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission in severity. J Med Genet, 26:704-711, 1989. https://doi.org/10.1136/jmg.26.11.704
  2. Benjamin CM, Colley A, Dnnai, et al. : Neruofibromatosis type 1 (NF1) : Knowledge, experience, and reproductivie decisions of affected patients and families. J Med Genet, 30:567-574, 1993. https://doi.org/10.1136/jmg.30.7.567
  3. Scott, JC : Scollosis and neurofibromatosis. J Bone Joint Surg Br, 47:240-246, 1965.
  4. Vellskakis KP, Wlison PD, Levine DB : Neurofibromatosis and scollosis. Significance of the short angular spinal curve. In preceedings of the American Academy of Orthopedic Surgeons. J Bone Joint Surg Br, 52:833, 1970.
  5. Yohay K : Neurofibromatosis types 1 and 2. Neurologist, 12: 86-93, 2006. https://doi.org/10.1097/01.nrl.0000195830.22432.a5
  6. Costa RM, Silva AJ : Mouse models of neurofibromatosis type 1 : bridging the GAP. Trends Mol Med, 9:19-23, 2003. https://doi.org/10.1016/S1471-4914(02)00008-4
  7. Ferner RE : Neurofibromatosis 1. Eur J Hum Genet, 15:131-8, 2007. https://doi.org/10.1038/sj.ejhg.5201676
  8. National Institute of Health Consensus Development Conference. Neurofibromatosis: conference statement. Arch Neurol, 45:578-8, 1988.
  9. Baden E. Fisher R : Multiple neurofibromatosis and neurofibroma of the palate. Oral Surg, 16:1356, 1963. https://doi.org/10.1016/0030-4220(63)90412-2
  10. Baden E, Pierce HF, Jackson WF. Multiple neurofibromatosis with oral lesions. Oral Surg, 8 263-280, 1955. https://doi.org/10.1016/0030-4220(55)90349-2
  11. Linda Lee, Yat-Hang Yan, Michael J pharoah, et al. : Radiographic features of the mandible in neurofibromatosis. Surg oral Med Pathol Oral Radiol Endod, 81:361-367, 1996. https://doi.org/10.1016/S1079-2104(96)80338-6
  12. 권순연 김태완 김영진 등 : 제1형 신경섬유종증 환아의 구강내 병소의 치험례. 대한소아치과학회지, 35:556-561, 2008.
  13. George Iaskans : Color Atlas of oral disease, 1st ed New York, Thieme Medical Publishers, p24, 1988.
  14. Lewis R Eversole : Clinical outline of oral pathology Diagnosis and Treatment, 2nd ed, Philadelphia, LEA & FEBIGER, p51, 1984.
  15. Neville WB, Hann J, Narang R, et al. : Oral neurofibromas associated with neurofibromatosis type 1. Oral Surg Med Oral Pathol, 72:456-461, 1991. https://doi.org/10.1016/0030-4220(91)90560-Y
  16. Muraki Y, Tateishi A, Tominaga K, et al. : Malignant peripheral nerve sheath tumour in the maxilla associated with Von Recklinghausen's disease. Oral Dis, 5:250-252, 1999.
  17. Barton B, North K : The self-concept of children and adolescents with neurofibromatosis type 1. Neurogenetics Research. Child Care Health Dev, 33:401-8, 2007. https://doi.org/10.1111/j.1365-2214.2006.00717.x
  18. 박승효, 이난영, 이상호 : 치은에 발생한 신경섬유종의 외과적 치험례. 대한소아치과학회지, 37:240-245, 2010.
  19. Nussbaum :의학유전학. 7판. E.public, 292-293, 2008.
  20. Manuel J Freeman, S Miles Standish : Facial and Oral manifestations of familial disseminated neurofibromatosis. Oral Surg, Oral Med, oral Path, 19:52-59, 1965. https://doi.org/10.1016/0030-4220(65)90218-5
  21. Grabb WC : Facial hamartomas in children Neurofibroma, lymphangioma, and hemangioma. Plast Reconstr Surg, 66:509, 1980. https://doi.org/10.1097/00006534-198010000-00003
  22. Adkins J C : The operative management of Neurofibromatosis in children. with special reference to lesions of the head and neck Surgery, 82:342, 1977.
  23. Anzinger FP, Springfield : Congenital plexiform neurofibromas and elephantiasis neurofibromatosa of the right arm. Ohio State M J, 15:424-5, 1919.
  24. Anzinger FP : Congenital plexiform neurofibromas and elephantiasis neurofibromatosa of the right arm and neck. JAMA, 96:1381-1382, 1931. https://doi.org/10.1001/jama.1931.27220430002009a
  25. Niimura M : Aspects in Neurofibromatosis from the viewpoint of dermatology. J Dermatol, 19:868-872, 1992. https://doi.org/10.1111/j.1346-8138.1992.tb03797.x
  26. Evans DG, Baster ME, McGaughran JM, et al. : Malignant peripheral nerve sheath tumors in neurofibromatosis 1. J Med Genet, 39:311-314, 2002. https://doi.org/10.1136/jmg.39.5.311
  27. Rasmussen SA, Yang Q, Friedman JM : Mortility in neurofibromatosis 1: analysing using U.S. death certificates. Am J Hum Genet, 68:1110-1118, 2001. https://doi.org/10.1086/320121