Journal of Contemporary Dentistry

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VOLUME 9 , ISSUE 1 ( January-April, 2019 ) > List of Articles


Von Recklinghausen's Disease Type I—A Case Report

Priyanka V Patil, Amita Navalkar

Keywords : Café au lait spots, Cutaneous neurofibromas, Neurofibromatosis type I, Plexiform neurofibroma

Citation Information : Patil PV, Navalkar A. Von Recklinghausen's Disease Type I—A Case Report. J Contemp Dent 2019; 9 (1):32-36.

DOI: 10.5005/jp-journals-10031-1244

License: CC BY-NC 4.0

Published Online: 01-06-2019

Copyright Statement:  Copyright © 2019; The Author(s).


Neurofibromatosis type I (NFI), also called Von Recklinghausen's disease, is a rare genetic disorder characterized by the development of multiple benign tumors of nerves and the skin (neurofibromas) and areas of abnormally decreased or increased coloration (hypo- or hyperpigmentation) of the skin. Areas of abnormal pigmentation typically include pale tan or light brown discolorations (café au lait spots) on the skin of the trunk and other regions as well as freckling, particularly under the arms (axillary) and in the groin (inguinal) area. Such abnormalities of skin pigmentation are often evident by 1 year of age and tend to increase in size and number over time. At birth or early childhood, affected individuals may have relatively large benign tumors that consist of bundles of nerves (plexiform neurofibromas). Individuals with NFI may also develop benign tumor-like nodules of the colored regions of the eyes (Lisch nodules) or tumors of the optic nerves (second cranial nerves), which transmit nerve impulses from the innermost, nerve-rich membrane of the eyes (retina) to the brain. We present a case of a 33-year-old male patient who reported at the Department of Oral Medicine, Diagnosis, and Radiology with multiple cutaneous tumors since childhood, café au lait pigmentation in the axilla and back, and radiographic features such as fusiform enlargement of the mandibular canal suggestive of Von Recklinghausen's disease type I.

  1. Khan M, Ohri N. Oral manifestations of type I neurofibromatosis in a family. J Clin Exp Dent 2011;3(5):e483–e486. DOI: 10.4317/jced.3.e483.
  2. Suragimath A, Bijjargi SC, et al. Oral manifestations in neurofibromatosis type I: a case report. J Indian Acad Oral Med Radiol 2014;26:241–244. DOI: 10.4103/0972-1363.143717.
  3. Javed F, Ramalingam S, et al. Oral manifestations in patients with neurofibromatosis type I: a comprehensive literature review. Oncol Hematol 2014 Aug;91(2):123–129.
  4. Chandran D, Anupama IV, et al. Oral Lesions in Neurofibromatosis type I: Report of a Case and Clinical Implications. IJSS Case Reports and Reviews 2016;2(9):24–28.
  5. NF1 and NF2: Hoa M, Slattery III WH. Neurofibromatosis 2. Otolaryngol Clin North Am 2012;45(2):315.
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