Case Report
BibTex RIS Cite
Year 2023, Volume: 17 Issue: 2, 98 - 102, 31.08.2023

Abstract

References

  • Chandran D, Anupama IV, Balan A, Bose CT, Girija KL, Binisree S. Oral lesions in neurofibromatosis type 1: report of a case and clinical ımplications. International Journal of Medical Reviews and Case Reports 2016;2:24–8.
  • Riccardi VM. Von Recklinghausen neurofibromatosis. N Engl J Med 1981;305:1617–26.
  • George‐Abraham JK, Martin LJ, Kalkwarf HJ, Rieley MB, Stevenson DA, Viskochil DH, Schorry EK. Fractures in children with neurofibromatosis type 1 from two NF clinics. Am J Med Genet A 2013;161:921–6.
  • Kaymak Y, Yüksel N, Karbulut AN, Ekşlioglu M. Nörofibromatozis: olgu sunumu. Turkiye Klinikleri Journal of Medical Sciences 2004; 24:702–6.
  • DeClue JE, Cohen BD, Lowy DR. Identification and characterization of the neurofibromatosis type 1 protein product. Proc Natl Acad Sci USA 1991;88:9914–8.
  • Legius E, Marchuk DA, Collins FS, Glover TW. Somatic deletion of the neurofibromatosis type 1 gene in a neurofibro-sarcoma supports a tumor suppressor gene hypothesis. Nat Genet 1993;3:122–6.
  • Stevenson DA, Zhou H, Ashrafi S, Messiaen LM, Carey JC, D’Astous JL, Santora SD, Viskochil DH. Double inactivation of NF1 in tibial pseudarthrosis. Am J Hum Genet 2006;79:143–8.
  • Sigillo R, Rivera H, Nikitakis NG, Sauk JJ. Neurofibromatosis type 1: a clinicopathological study of the orofacial manifestations in 6 pediatric patients. Pediatr Dent 2002;24:575–80.
  • Odom RB, James WD, Berger TG. Andrews’ diseases of the skin: clinical dermatology. 9 th ed. Philadelphia (PA): WB Saunders; 2000. p. 1135.
  • Crowe FW, Schull WJ. Diagnostic importance of cafe-au-lait spots in neurofibromatosis. Arch Intern Med 1953;91:758–66.
  • Kopczyński P, Flieger R, & Matthews-Brzozowska T. Changes in the masticatory organ in patients with Recklinghausen’s disease–a case report. Contemp Oncol (Pozn) 2012;16:453–5.
  • Pinson S, Wolkenstein P. Neurofibromatosis type 1 or von Recklinghausen’s disease. [Article in France] Rev Med Interne 2005; 26:196–215.
  • Hunt JC, Pugh DG. Skeletal lesions in neurofibromatosis. Radiology 1961;76:1–20.
  • Klatte EC, Franken EA, Smith JA. The radiographic spectrum in neurofibromatosis. Semin Roentgenol 1976;11:17–33.
  • Elefteriou F, Kolanczyk M, Schindeler A, Viskochil DH, Hock JM, Schorry EK, Crawford AH, Friedman JM, Little D, Peltonen J, Carey JC, Feldman D, Yu X, Armstrong L, Birch P, Kendler DL, Mundlos S, Yang F-C, Agiostratidou G, Hunter-Schaedle K, Stevenson DA. Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options. Am J Med Genet Part A 2009; 149:2327–38.
  • Crawford AH. Neurofibromatosis. In: Weinstein SL, editor. The pediatric spine. New York: (NY) Raven Press; 1994. p. 619–49.
  • Macfarlane R, Levin AV, Weksberg R, Blaser S, Rutka JT. Absence of the greater sphenoid wing in neurofibromatosis type I: congenital or acquired: case report. Neurosurg 1995;37:129–33.
  • Ippolito E, Corsi A, Grill F, Wientroub S, Bianco P. Pathology of bone lesions associated with congenital pseudarthrosis of the leg. J Pediatr Orthop B 2000;9:3–10.
  • Friedrich RE, Giese M, Mautner VF, Schmelzle R, Scheuer HA. Abnormalities of the maxillary sinus in type 1 neurofibromatosis. Mund Kiefer Gesichtschir 2002;363–7.
  • Koblin I, Reil B. Changes of the facial skeleton in cases of neurofibromatosis. J Maxillofac Surg 1975;3:23–7.
  • Van Damme PA, Freihofer HP, De Wilde PC. Neurofibroma in the articular disc of the temporomandibular joint: a case report. J Craniomaxillofac Surg 1996;24:310–3.
  • Arendt DM, Schaberg SJ, Meadows JT. Multiple radiolucent areas of the jaws. J Am Dent Assoc 1987;115:597–9.
  • Lee L, Yan YH, Pharoah MJ. Radiographic features of the mandible in neurofibromatosis: a report of 10 cases and review of the literature. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 1996;81:361–7.
  • Sailer HF, Kunzler A, Makek MS. Neurofibrohemangiomatous soft tissue changes with pathognomonic mandibular deformity. Fortschr Kiefer Gesichtschir 1988;33:84–6.
  • Friedrich RE, Giese M, Schmelzle R, Mautner VF, Scheuer HA. Jaw malformations plus displacement and numerical aberrations of teeth in neurofibromatosis type 1: a descriptive analysis of 48 patients based on panoramic radiographs and oral findings. J Craniomaxillofac Surg 2003;31:1–9.
  • Andrade Munhoz E, Cardoso CL, de Souza Tolentino E. Von Recklinghausen’s disease - Diagnosis from oral lesion. Neurofibro-matosis I. International Journal of Odontostomatology 2010;4:179–83.

Unilateral mandibular atrophy in neurofibromatosis-1: case report

Year 2023, Volume: 17 Issue: 2, 98 - 102, 31.08.2023

Abstract

Neurofibromatosis is an autosomal dominant neurocutaneous syndrome characterized by skin lesions and central or peripheral nervous system tumors. Although neurofibromatosis is a neurocutaneous disease, it also involves multiple systems. For example, bone lesions have been reported in 40% of patients. As in this case, pathologies associated with the mandible and temporomandibular joint in neurofibromatosis are rarely reported in the literature. In our case, we aimed to emphasize that skeletal malformations may also be present in the rich clinical picture of neurofibromatosis. Maxillofacial computed tomography of a 24-year-old female patient who was followed up at Selçuk University Hospital with a diagnosis of neurofibromatosis revealed an appearance compatible with atrophy in the right half of the mandible. The mandibular ramus was 41.27 mm on the right and 53.44 mm on the left; the diameter of the condyloid process was 10.31 mm on the right and 15.71 mm on the left. The joint distance was increased on the right. Radiologic examinations in neurofibromatosis syndrome should be performed considering the possibility of bone lesions. These examinations are especially important for the prevention of pathologic fractures in bones.

References

  • Chandran D, Anupama IV, Balan A, Bose CT, Girija KL, Binisree S. Oral lesions in neurofibromatosis type 1: report of a case and clinical ımplications. International Journal of Medical Reviews and Case Reports 2016;2:24–8.
  • Riccardi VM. Von Recklinghausen neurofibromatosis. N Engl J Med 1981;305:1617–26.
  • George‐Abraham JK, Martin LJ, Kalkwarf HJ, Rieley MB, Stevenson DA, Viskochil DH, Schorry EK. Fractures in children with neurofibromatosis type 1 from two NF clinics. Am J Med Genet A 2013;161:921–6.
  • Kaymak Y, Yüksel N, Karbulut AN, Ekşlioglu M. Nörofibromatozis: olgu sunumu. Turkiye Klinikleri Journal of Medical Sciences 2004; 24:702–6.
  • DeClue JE, Cohen BD, Lowy DR. Identification and characterization of the neurofibromatosis type 1 protein product. Proc Natl Acad Sci USA 1991;88:9914–8.
  • Legius E, Marchuk DA, Collins FS, Glover TW. Somatic deletion of the neurofibromatosis type 1 gene in a neurofibro-sarcoma supports a tumor suppressor gene hypothesis. Nat Genet 1993;3:122–6.
  • Stevenson DA, Zhou H, Ashrafi S, Messiaen LM, Carey JC, D’Astous JL, Santora SD, Viskochil DH. Double inactivation of NF1 in tibial pseudarthrosis. Am J Hum Genet 2006;79:143–8.
  • Sigillo R, Rivera H, Nikitakis NG, Sauk JJ. Neurofibromatosis type 1: a clinicopathological study of the orofacial manifestations in 6 pediatric patients. Pediatr Dent 2002;24:575–80.
  • Odom RB, James WD, Berger TG. Andrews’ diseases of the skin: clinical dermatology. 9 th ed. Philadelphia (PA): WB Saunders; 2000. p. 1135.
  • Crowe FW, Schull WJ. Diagnostic importance of cafe-au-lait spots in neurofibromatosis. Arch Intern Med 1953;91:758–66.
  • Kopczyński P, Flieger R, & Matthews-Brzozowska T. Changes in the masticatory organ in patients with Recklinghausen’s disease–a case report. Contemp Oncol (Pozn) 2012;16:453–5.
  • Pinson S, Wolkenstein P. Neurofibromatosis type 1 or von Recklinghausen’s disease. [Article in France] Rev Med Interne 2005; 26:196–215.
  • Hunt JC, Pugh DG. Skeletal lesions in neurofibromatosis. Radiology 1961;76:1–20.
  • Klatte EC, Franken EA, Smith JA. The radiographic spectrum in neurofibromatosis. Semin Roentgenol 1976;11:17–33.
  • Elefteriou F, Kolanczyk M, Schindeler A, Viskochil DH, Hock JM, Schorry EK, Crawford AH, Friedman JM, Little D, Peltonen J, Carey JC, Feldman D, Yu X, Armstrong L, Birch P, Kendler DL, Mundlos S, Yang F-C, Agiostratidou G, Hunter-Schaedle K, Stevenson DA. Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options. Am J Med Genet Part A 2009; 149:2327–38.
  • Crawford AH. Neurofibromatosis. In: Weinstein SL, editor. The pediatric spine. New York: (NY) Raven Press; 1994. p. 619–49.
  • Macfarlane R, Levin AV, Weksberg R, Blaser S, Rutka JT. Absence of the greater sphenoid wing in neurofibromatosis type I: congenital or acquired: case report. Neurosurg 1995;37:129–33.
  • Ippolito E, Corsi A, Grill F, Wientroub S, Bianco P. Pathology of bone lesions associated with congenital pseudarthrosis of the leg. J Pediatr Orthop B 2000;9:3–10.
  • Friedrich RE, Giese M, Mautner VF, Schmelzle R, Scheuer HA. Abnormalities of the maxillary sinus in type 1 neurofibromatosis. Mund Kiefer Gesichtschir 2002;363–7.
  • Koblin I, Reil B. Changes of the facial skeleton in cases of neurofibromatosis. J Maxillofac Surg 1975;3:23–7.
  • Van Damme PA, Freihofer HP, De Wilde PC. Neurofibroma in the articular disc of the temporomandibular joint: a case report. J Craniomaxillofac Surg 1996;24:310–3.
  • Arendt DM, Schaberg SJ, Meadows JT. Multiple radiolucent areas of the jaws. J Am Dent Assoc 1987;115:597–9.
  • Lee L, Yan YH, Pharoah MJ. Radiographic features of the mandible in neurofibromatosis: a report of 10 cases and review of the literature. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 1996;81:361–7.
  • Sailer HF, Kunzler A, Makek MS. Neurofibrohemangiomatous soft tissue changes with pathognomonic mandibular deformity. Fortschr Kiefer Gesichtschir 1988;33:84–6.
  • Friedrich RE, Giese M, Schmelzle R, Mautner VF, Scheuer HA. Jaw malformations plus displacement and numerical aberrations of teeth in neurofibromatosis type 1: a descriptive analysis of 48 patients based on panoramic radiographs and oral findings. J Craniomaxillofac Surg 2003;31:1–9.
  • Andrade Munhoz E, Cardoso CL, de Souza Tolentino E. Von Recklinghausen’s disease - Diagnosis from oral lesion. Neurofibro-matosis I. International Journal of Odontostomatology 2010;4:179–83.
There are 26 citations in total.

Details

Primary Language English
Subjects Radiology and Organ Imaging
Journal Section Case Reports
Authors

Betül Sevindik

Nadire Ünver Doğan

Abdussamet Batur

Büşra Pirinç

Zeliha Fazlıoğulları

Publication Date August 31, 2023
Published in Issue Year 2023 Volume: 17 Issue: 2

Cite

APA Sevindik, B., Ünver Doğan, N., Batur, A., Pirinç, B., et al. (2023). Unilateral mandibular atrophy in neurofibromatosis-1: case report. Anatomy, 17(2), 98-102.
AMA Sevindik B, Ünver Doğan N, Batur A, Pirinç B, Fazlıoğulları Z. Unilateral mandibular atrophy in neurofibromatosis-1: case report. Anatomy. August 2023;17(2):98-102.
Chicago Sevindik, Betül, Nadire Ünver Doğan, Abdussamet Batur, Büşra Pirinç, and Zeliha Fazlıoğulları. “Unilateral Mandibular Atrophy in Neurofibromatosis-1: Case Report”. Anatomy 17, no. 2 (August 2023): 98-102.
EndNote Sevindik B, Ünver Doğan N, Batur A, Pirinç B, Fazlıoğulları Z (August 1, 2023) Unilateral mandibular atrophy in neurofibromatosis-1: case report. Anatomy 17 2 98–102.
IEEE B. Sevindik, N. Ünver Doğan, A. Batur, B. Pirinç, and Z. Fazlıoğulları, “Unilateral mandibular atrophy in neurofibromatosis-1: case report”, Anatomy, vol. 17, no. 2, pp. 98–102, 2023.
ISNAD Sevindik, Betül et al. “Unilateral Mandibular Atrophy in Neurofibromatosis-1: Case Report”. Anatomy 17/2 (August 2023), 98-102.
JAMA Sevindik B, Ünver Doğan N, Batur A, Pirinç B, Fazlıoğulları Z. Unilateral mandibular atrophy in neurofibromatosis-1: case report. Anatomy. 2023;17:98–102.
MLA Sevindik, Betül et al. “Unilateral Mandibular Atrophy in Neurofibromatosis-1: Case Report”. Anatomy, vol. 17, no. 2, 2023, pp. 98-102.
Vancouver Sevindik B, Ünver Doğan N, Batur A, Pirinç B, Fazlıoğulları Z. Unilateral mandibular atrophy in neurofibromatosis-1: case report. Anatomy. 2023;17(2):98-102.

Anatomy is the official journal of Turkish Society of Anatomy and Clinical Anatomy (TSACA).