- Neurofibromatosis (NF) is a group of genetic disorders that affect neural tissues cell growth. Neurofibromatosis type 1, also known as von Recklinghausen’s disease is the most common type of NF.
- It accounts for approximately 90% of all the cases and is one of the most common human genetic diseases.
- The manifestation of NF1 ranges from mild lesions to several complications and functional impairment. Similarly, oral manifestations can be found in 72% of the cases of NF1.
This article will report Neurofibromatosis type 1 in a family with different manifestations.
Case 1
The first case is of the mother, who was 50 years old and had several neurofibromas on the body, head and neck and Café-au-lait pigmentation. She did not present with any systemic problems or any oral manifestation. All of her children also had skin neurofibroma and Café-au-lait pigmentations. Moreover, her first child died because of the severity of manifestations. She also mentioned that her mother and aunt had neurofibroma and Café-au-lait spots on their skin.
Case 2
The 25-year-old daughter and first offspring reported eight surgeries on her face because of left facial nerve involvement. Additionally, she also presented with a lowered left ear and facial asymmetry. She also had several Café-au-lait pigmentations and neurofibromas on her body, including oral manifestations of NF1. Moreover, oral examination revealed three new formations of neurofibromatic masses on the palate and sublingual mucosa.
Case 3
The second offspirng, 23-year-old female lost vision in her left eye because of an optic nerve tumour. She received radiotherapy for the tumour. She also had Café-au-lait pigmentations and neurofibroma on her body with no oral manifestations.
Case 4
The third offspring, 20-year-old male had a history of fever in his childhood and arteriovenous shunt because of brain surgery. He presented with headaches and lesions similar to those in other family members. He did not have any oral manifestations.
Case 5
The 17-year-old female offspring presented with scoliosis that resulted in a pathological fracture on the vertebral column. She had very limited pigmentations on her trunk and over the area of scoliosis. Similarly, she did not have any oral manifestations either.
References
Neurofibromatosis type I (von Recklinghausen’s disease): A family case report and literature review https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3491339/
