Neurofibromatosis type I (von Recklinghausen's disease): A family case report and literature review

Abstract

The term neurofibromatosis (NF) is used for a group of genetic disorders that primarily affect the cell growth of neural tissues. Neurofibromatosis type 1 (NF1), also known as von Recklinghausen's disease, is the most common type of NF, and accounts for about 90% of all cases. It is one of the most frequent human genetic diseases, with a prevalence of one case in 3,000 births. The expressivity of NF1 is extremely variable, with manifestations ranging from mild lesions to several complications and functional impairment. Oral manifestations can be found in almost 72% of the NF1 patients. The aim of this article is to report the NF1 in a family with different manifestations and to review the literature.

Keywords: Genetic diseases; neurofibromatosis type 1; von Recklinghausen's disease.

Figure 1

Pelexiform neurofibroma and café-au-lait spots in the mother

Figure 2

Café-au-lait spots and small neurofibromas in the third offspring

Figure 3

Lateral view of the face in the first offspring. Facial asymmetry and ear involvement are present

Figure 4

First offspring — sublingual neurofibroma

Figure 5

First offspring — palatal neurofibroma

Figure 6

Scoliosis in the last offspring

Figure 7

Panoramic view of the first offspring

Figure 8

Immunohistochemical feature of the oral neurofibroma in the first offspring