Neurofibromatosis type1 (NF1) with the incidence of 1 in 3500 births, is the most common disorder which affects skin and peripheral nervous system. NF1 results from mutations in NF1 gene. The NF1 gene spans 350kbp and to date, nearly 2434 mutations in it were reported. The gene with 100 percent penetrance is located on chromosome 17 encoding neurofibromin protein. Recently, many challenges of its genetic analysis have been overcome through the application of new sequencing techniques. In present study patients with neurofibromatosis type 1 have been characterized from clinical symptoms such as presence of café au lait spot, plexiform neurofibroma, optic nerves involvement, presence of several patients in first degree relatives. These patients were in different ages including 73, 63, 44, 20 with different symptoms and severities of disease. In this communication, a NF1 family with 4 cases in 3 generations has been presented.

Neurofibromatosis (NF) is a heterogeneous group of tumor predisposition syndromes that lead to malignancy in the central and peripheral nervous systems. Neurofibromatosis type 1 (NF1), along with neurofibromatosis type 2 (NF2) and schwannomatosis (SCH), are the three main types of NF. As the most common form, NF1 is characterized by neurofibromas and Cafe-au-lait macules (CALMs) in early childhood. Neurofibromatosis type 1 is caused by mutations in the NF1 gene, which codes for neurofibromin, and mutations in NF2 and SMARCB1 gene lead to neurofibromatosis type 2 and schwannomatosis, respectively. In addition, most patients with neurofibromatosis type 2 have vestibular schwannoma, also associated with hearing problems and body imbalance. Recently, schwannomatosis has been proposed as a distinct genetic disorder because it shares many symptoms with neurofibromatosis types one and two, characterized by benign schwannoma around nerves. NF1 and NF2 may show symptoms in childhood, but schwannomatosis is often diagnosed in people in their thirties or older. This article reviews the latest scientific literature according to the keywords of neurofibromatosis, pathogenesis, treatment, NF1, and NF2 in Google Scholar, PubMed, and Web of Science online databases on the types of neurofibromatosis, molecular pathways, diagnostic criteria, clinical symptoms, condition management, treatments and drugs under development.

Background and Objective: The psychological experience of mental pain can lead to distress similar to that caused by actual injury or trauma. As such, it poses a life-threatening consequence for chronic patients, although it is rarely assessed and treated in clinical settings. One of the diseases associated with high levels of physical and mental pain is the rare disorder neurofibromatosis. This study aimed to evaluate mental pain in patients with neurofibromatosis and its association with disease severity.
Methods: This descriptive-analytical study was conducted on 207 patients with neurofibromatosis who were members of the Iranian Neurofibromatosis Support Association during 2023. Data collection tools included a demographic and clinical information registration form and the Orbach and Mikulincer Mental Pain Scale (OMMP), which comprises 44 items and 6 subscales, with a scoring range from 44 to 220.
Results: The total mental pain score was 121.15±42.41, with a range of 44 to 206. The total mental pain scores for men and women were 123.67±38.98 and 120.31±43.58, respectively. The "confusion" subscale had the highest average score, while the "fear of loneliness" subscale had the lowest average score. There was a statistically significant association between the total mental pain score and its subscales with the severity of the disease and the patient's educational level (P<0.05).
Conclusion: The mental pain scores of patients with neurofibromatosis were evaluated to be relatively unfavorable.