Plexiform neurofibroma (PF) is a rare benign variant belonging to a subtype of neurofibromatosis type 1 that forms bulging or deforming masses arising from the peripheral nerve sheath. These masses involve surrounding connective tissue or dermal layers, leading to multiple cutaneous changes and certain characteristic appearances. It is these appearances that aid in the diagnosis of PF. We have encountered two distinct patients diagnosed with this disorder. While one patient was clinically and pathologically confirmed for PF, the other had no characteristic cutaneous changes. The diagnosis was made with postoperative histopathology and confirmed with an immunohistochemical examination. There are various modalities in the management of PFs, with surgery being a mainstay in the treatment of disfiguring large PFs, especially in resource-restrained settings. In view of high recurrence rates, postoperative clinical follow-up is a must. This paper describes these patients\' typical and atypical clinical presentation and subsequent management.

BACKGROUND: Neurofibromatosis type 1 is an autosomal-dominant disease characterized by café-au-lait spots and neurofibromas, as well as various other symptoms in the bones, eyes, and nervous system. Due to its connection with vascular fragility, neurofibromatosis type 1 has been reported to be associated with vascular lesions, such as aneurysms. However, there have been few reports of abdominal visceral aneurysms associated with neurofibromatosis type 1. Furthermore, there have been no reports of robotic treatment of aneurysms associated with neurofibromatosis type 1. In this report, we describe the case of a patient with neurofibromatosis type 1 with a splenic artery aneurysm who was successfully treated with robotic surgery.
METHODS: This report describes a 41-year-old Asian woman with a history of neurofibromatosis type 1 who was referred to our hospital for evaluation of a 28 mm splenic artery aneurysm observed on abdominal ultrasound. The aneurysm was in the splenic hilum, and transcatheter arterial embolization was attempted; however, this was difficult due to the tortuosity of the splenic artery. Thus, we suggested minimally invasive robotic surgery for treatment and resection of the splenic artery aneurysm with preservation of the spleen. The postoperative course was uneventful, and the patient was discharged on the eighth day after surgery. At 1 year of follow-up, the patient was doing well, with no evidence of recurrence.
CONCLUSIONS: We encountered a rare case of splenic artery aneurysm in a patient with neurofibromatosis type 1 who was successfully treated with robotic surgery. There is no consensus on treatment modalities for neurofibromatosis-related aneurysms, and endovascular treatment is considered safe and effective; however, surgery remains an important treatment modality. Especially in patients with stable hemodynamic status, robotic surgery may be considered as definitive treatment. To our knowledge, this is the first successfully treated case of a splenic artery aneurysm in a patient with neurofibromatosis type 1.

To clarify the possibilities and role of posterior segment imaging in patients with neurofibromatosis type I (NF1), and to show the prevalence of this disease in the pediatric population in Slovakia.
Until recently, ophthalmologic consultations in patients with NF1 were limited mainly to the observation of Lisch nodules of the iris and the presence of optic nerve glioma. However, advances in imaging capabilities have made it possible to investigate and describe new f indings concerning the ocular manifestations of this disease. Between October 2020 and November 2021, we examined the anterior and posterior segment of 76 eyes (38 children – 12 boys and 26 girls) with genetically confirmed NF1 gene mutation at our clinic. The age of the patients ranged from 4 to 18 years. The anterior segment was checked for the presence of Lisch nodules biomicroscopically with a slit lamp. On the posterior segment, the presence of choroidal nodules was checked by various imaging methods – fundus camera, infrared confocal selective laser ophthalmoscopy, MultiColor imaging, OCT, and OCT angiography. All the patients had magnetic resonance imaging performed in order to detect potential optic nerve gliomas for the purpose of diagnosis. We observed the correlation between the patients’ age, presence of Lisch nodules and the presence of choroidal nodules. Eight patients also had other manifestations of the disease – optic nerve gliomas or microvascular changes (so-called “corkscrew” vessels).
Out of 38 patients, Lisch iris nodules were present in 20 patients (53%) and choroidal nodules in 24 patients (63%). There was no positive correlation between the presence of these two manifestations within the same patient or eye, but there is a clear correlation between the presence of choroidal nodules and patient age.
The results suggest that a previously unknown ocular manifestation of neurofibromatosis type I, namely choroidal nodules, has a higher prevalence than Lisch nodules also in the pediatric population and can be easily visualized using various imaging modalities. It will be important to include follow-up observation of this finding among the standard controls for ocular findings in NF1, and it will be very interesting to correlate this f inding with the exact NF1 mutation

The objectives of this study were to retrospectively investigate the patient characteristics, treatment patterns, healthcare resource utilization (HCRU), and healthcare costs related to management of neurofibromatosis type 1 (NF1) in Japan.
Cohorts of NF1 patients with or without plexiform neurofibromas (PN) were identified from the Medical Data Vision database in 2008-2019. Baseline characteristics, NF1 medications, HCRU, and associated costs were assessed using descriptive statistics. All-cause HCRU and costs following the first confirmed NF1 diagnosis date were analyzed per patient per year (PPPY) in Japanese Yen (JPY) and United States Dollar (USD).
A total of 4394 NF1 patients without PN and 370 NF1 patients with PN were identified. The mean age was 35.0 and 36.9 years, respectively. The proportion of patients with PN treated with medications was higher than that in patients without PN (except for antirheumatic/immunologic agents). Analgesics/non-steroidal anti-inflammatory drugs were the most frequently prescribed NF1 medications (44.3% and 56.0% in patients without and with PN, respectively), followed by inpatient prescriptions of opioids/opioid-like agents (17.8% and 27.6%, respectively). Inpatient admissions accounted for the highest costs in both cohorts with the average cost PPPY being JPY 2,133,277 (USD 19,861) for patients without PN and JPY 1,052,868 (USD 9802) for patients with PN.
NF1 is treated primarily with supportive care with analgesics/non-steroidal anti-inflammatory drugs being the most frequently prescribed NF1 medications in Japan. Findings underscored the unmet need and substantial economic burden among patients with NF1 and highlighted the need for new treatment options for patients with this disease.

Neurocutaneous syndromes (also known as phakomatoses) are heterogenous group of disorders that involve derivatives of the neuroectoderm. Each disease has diagnostic and pathognomonic criteria, once identified, thorough clinical examination to the patient and the family members should be done. Magnetic resonance imaging (MRI) is used to study the pathognomonic findings withing the CNS (Evans et al. in Am J Med Genet A 152A:327-332, 2010). This chapter includes the 4 most common syndromes faced by neurosurgeons and neurologists; neurofibromatosis types 1 and 2, tuberous sclerosis and Von Hippel-Lindau disease. Each syndrome has specific genetic anomaly that involves a tumor suppressor gene and the loss of inhibition of specific pathways. The result is a spectrum of cutaneous manifestations and neoplasms.

BACKGROUND: The notion of \"burden\" has taken a key place in the evaluation of care, particularly in the case of rare diseases. The aim of this study was to evaluate the psychometric properties of the burden of neurofibromatosis 1 questionnaire (BoN) and to determine the perceived disease burden.
RESULTS: The 15-item BoN was translated into Persian, and no items were removed based on content validity. The adequacy of the sample was acceptable (KMO = 0.902), and Bartlett\'s test of sphericity revealed statistically significant results (P < 0.001). Exploratory factor analysis revealed three factors. The reliability of the scale was good (Cronbach\'s alpha: 0.90), and the intraclass coefficient was 0.85. The severity of the burden of neurofibromatosis was moderate, and the total mean burden score was 33.12 ± 16.12.
CONCLUSIONS: The Persian version of the BoN is an acceptable tool in terms of structure and content, and it specifically assesses the practical aspects of daily activities for patients with neurofibromatosis.

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As oncology practice is rapidly shifting away from toxic chemotherapy, gene therapy provides a highly specific therapeutic approach for brain tumors. In this systematic review, we investigate gene therapy\'s status in pediatric brain tumors and future recommendations. The search was conducted systematically using PubMed, Cochrane, Google Scholar, and ClinicalTrials.gov databases. The field search used in the process was selected based on the keywords and Medical Subject Headings (MeSH), depending on the database used. We included cases of neurofibromatosis type 1 (NF1) brain tumors in all age groups with the additional inclusion of English language, free full text, articles published within the last 20 years, randomized controlled trials (RCTs), observational studies, systematic reviews, and meta-analyses. We excluded case reports, case studies, and editorials. The search identified a total of 1,213 articles from the databases. We included 19 studies with 16 narrative reviews, one systematic review, and two randomized clinical trials with 43 patients. After reviewing all data in the articles, we found that gene therapy can improve standard treatment efficacy when used as adjuvant therapy. It can be used to overcome barriers such as chemotherapy resistance by downregulating resistance genes. It is associated with mild toxicity when compared with other available treatment options, but given the overall poor prognosis in pediatric brain tumors, further studies are warranted.

To report radiographic characteristics of a case of a patient with neurofibromatosis involving the maxillomandibular complex and to point out other dental radiographic characteristics that are found in the scientific literature to help the dentist when faced with a case of neurofibromatosis.
Male, 31 years old, referred for radiographic examination. During anamnesis and physical examination, lesions were noted, which were papules and café-au-lait patches larger than 1 cm on the trunk and upper limbs, further to Lisch nodules (brown spots on the iris) and axillary and inguinal ephelides. When investigating the history of the disease, the patient reported the presence of such skin atlterations since birth and mentioned that his mother had been diagnosed with neurofibromatosis. During radiographic evaluation, a significant increase in the caliber of the mandibular canal and mental foramen was observed, bilaterally.
Completing the combination of skin characteristics present in the patient, anamnesis data and current history of the disease with interpretation of radiographic alterations, it was possible to arrive at the diagnostic hypothesis of Neurofibromatosis type 1 and correct clinical management. Therefore, it is extremely important for the dentist to be aware of the clinical, physical and radiographic characteristics that this condition presents for the correct management and success of dental treatment.

A neurofibroma is a benign, non-encapsulated neoplasm of the peripheral nerve sheath. These tumors are a notorious manifestation of the autosomal dominant condition known as neurofibromatosis type 1, where they present as multiple, cutaneous masses with high malignant potential. On the contrary, benign solitary retroperitoneal neurofibromas (SRN) occur without any associated conditions and have rarely been documented. Our case is of a 40-year-old male who presented with a three-month history of painful calf swelling, refractory to over-the-counter painkillers which was later diagnosed as deep vein thrombosis (DVT). A computed tomography (CT) angiogram was done which revealed a mass in the retroperitoneum impinging on the inferior vena cava (IVC). Approximately one month later, the whole mass was surgically excised and histopathology confirmed the diagnosis of a neurofibroma. This case presentation proved to be novel as it highlights the evaluation and management of a rare SRN which resulted in extensive DVT.