Association between Neurofibromatosis Type I and Central Giant Cell Lesion: Case Report

Monyque Cunha Trindade

doi:10.4172/2376-0427.1000161

Abstract

Neurofibromatosis type I (NF1), or Von Recklinghausen disease, is characterized by cafe-au-lait spots and neurofibromas of the skin, bone defects, iris hamartomas (Lisch nodules) and tumors in the central nervous system. The central giant cell lesion (CGCL) is a non-neoplastic entity, intra-osseous, radiolucent, uni or multilocular, well-defined edges, and it can change the position of the teeth, but rarely causes resorption of them. The association between CGCL and NF1 has been described in the literature. Patient C.R.P, 42 years old, female, who has NF1 attended the service presenting asymptomatic swelling in the anterior maxilla and discrete painless intraoral bulge in the anterior mandible with approximate evolution of one year. Incisional biopsy was performed, and the result was CGCL. The patient didn’t have hyperparathyroidism. Treatment consisted of curettage of the lesion and bone regularization performed three years ago, without signs of recurrence. The occurrence of CGCL in multiple locations is uncommon and it is usually associated with hyperparathyroidism, cherubism, and can be also found in syndromes such as: Ramon Jaffe Campanacci, Noonan-like and NF1. The patient presented four features of NF1 (multiple skin neurofibromas, cafeau- lait spots, Lisch nodules and freckles in the armpits) and CGCL in two locations, which corroborate the existence of this association in the literature. The apparent relationship between NF1 and an increased incidence of CGCL s in the jaws could represent a coincidental association, genetic relationship, or susceptibility to developing CGCL in abnormal bone quality. In cases of multiple CGCL, the presence of hyperparathyroidism, cherubism and syndromes such as NF1, should be considered. One realizes the importance of investigation of systemic factors and clinical signs for performing differential diagnosis. The differentiation of these lesions in aggressive and nonaggressive should be done to improve individual treatment plan. Surgical curettage is acceptable for the treatment of non-aggressive CGCL.

Highlights

Neurofibromatosis type I (NF1), known as Von Recklinghausen’s neurofibromatosis is a common genetic autosomal dominant hereditary disorder that affects multiple body systems [16]
Chrcanovic et al reported that the occurrence of multiple central giant cell lesion (CGCL) has been described in association with NF1 and a genetic mutation was found in a family affected by both disorders
Few cases of multiple CGCL of the jaw in patients without hyperparathyroidism have been reported in the literature

Summary

Introduction

Neurofibromatosis type I (NF1), known as Von Recklinghausen’s neurofibromatosis is a common genetic autosomal dominant hereditary disorder that affects multiple body systems [16]. Edwards et al believe that the increased incidence of CGCL of the jaws in NF1 patients represents a susceptibility inherent to intraosseous trauma or hemorrhage in previously altered bone for dysplasia. This abnormal bone quality can be more likely to develop CGCL, like lesions in response to yet undefined factors such as excessive mechanical stress or vascular fragility [4]. Physical exam revealed café-au-lait spots (Figure 4), armpits freckles (Figure 5), skin neurofibromas (Figure 6) and Lisch nodules (Figure 7) She presented facial asymmetry with increased left cheek (Figure 1). Curettage and marginal ostectomy of both lesions were done, without relapse after 36 months of follow-up

Findings

Discussion

Conclusion