BACKGROUND: Cutaneous neurofibromas (cNFs) are a major cause of disfigurement in patients with Neurofibromatosis Type 1 (NF1). However, clinical trials investigating cNF treatments lack standardised outcome measures to objectively evaluate changes in cNF size and appearance. 3D imaging has been proposed as an objective standardised outcome measure however various systems exist with different features that affect useability in clinical settings. The aim of this study was to compare the accuracy, precision, feasibility, reliability and accessibility of three imaging systems.
METHODS: We compared the Vectra-H1, LifeViz-Micro and Cherry-Imaging systems. A total of 58 cNFs from 13 participants with NF1 were selected for imaging and analysis. The primary endpoint was accuracy as measured by comparison of measurements between imaging systems. Secondary endpoints included reliability between two operators, precision as measured with the average coefficient of variation, feasibility as determined by time to capture and analyse an image and accessibility as determined by cost.
RESULTS: There was no significant difference in accuracy between the three devices for length or surface area measurements (p > 0.05), and reliability and precision were similar. Volume measurements demonstrated the most variability compared to other measurements; LifeViz-Micro demonstrated the least measurement variability for surface area and image capture and analysis were fastest with LifeViz-Micro. LifeViz-Micro was better for imaging smaller number of cNFs (1-3), Vectra-H1 better for larger areas and Cherry for uneven surfaces.
CONCLUSIONS: All systems demonstrated excellent reliability but possess distinct advantages and limitations. Surface area is the most consistent and reliable parameter for measuring cNF size in clinical trials.

Neurofibromatosis is a group of genetic disorders that primarily impact the growth of neural tissues, leading to multiple tumors on nerve tissues in the brain, spinal cord, and peripheral nerves. As an autosomal dominant condition, it involves mutations in the neurofibromatosis type 1 (NF1) tumor-suppressor gene, inherited in a recessive manner. Plexiform neurofibroma is a rare manifestation. It is a benign peripheral nerve sheath tumor that grows beneath the skin or deeper within tissues without clear boundaries. The diverse presentations of NF1 necessitate careful, personalized medical management to address the disorder\'s effects on various organs. Due to its progressive nature, early diagnosis is crucial to prevent complications. Comprehensive care, including psychological support and long-term monitoring, is essential for enhancing the quality of life of NF1 patients. By adopting a proactive and holistic approach, healthcare providers can better assist patients in managing this complex condition.

Neurofibroma are rare occurrences in the oral cavity with the tongue as the most common location in the oral cavity being affected by neurofibroma. Neurofibroma are usually asymptomatic, irregular tissue masses of benign nature with a small rate of malignant conversion. Recurrence rates are also low in the neurofibromas of the oral cavity. It is rare in India with only a few cases reported to date. Hence, we report this case of a 63-year-old female with a tissue mass present on the right side of her tongue for the last five years, with a progressive nature. The mass was associated with pain during chewing food for the last three months. She was managed by a wide local incision and was reported well recovering at a three-month follow-up.

Neurofibromas, rare benign tumors of the peripheral nerve sheath, present diagnostic challenges, particularly in diabetic patients with toe ulcers. This case involves a 55-year-old female with type 2 diabetes mellitus who developed an enlarging ulcer on her right second toe. The initial evaluation suggested a diabetic ulcer; however, advanced imaging revealed a mass-like lesion. Partial excision and biopsy confirmed a neurofibroma with spindle cells within the myxoid stroma and S100 protein expression. One month later, total excision and Z-plasty reconstruction were performed under general anesthesia. The patient\'s postoperative recovery was uneventful, and the patient was discharged without complications. Follow-up revealed successful healing with no recurrence or functional issues. This case highlights the importance of considering neurofibromas in the differential diagnosis of diabetic toe ulcers to avoid misdiagnosis and ensure appropriate management.

Nuclear Protein in Testis (NUT)-rearranged tumors comprise predominantly NUT carcinoma but also include certain lymphomas, leukemias, skin appendage tumors, and sarcomas. Although histologically diverse, all are genetically identified by oncogenic rearrangement in the NUTM1 gene. Many fusion partners occur, and NSD3 is NUT carcinoma\'s third most common partner. Herein, we present a case of a 26-year-old man with an NSD3::NUTM1 fusion sarcoma. The patient presented at the age of 13 months with a scalp nodule. Over the next 24 years, he experienced five local recurrences and ultimately expired of a rapidly progressive recurrence. His treatment included surgical resections, radiation, and various chemotherapies. Deceptively, the clinical presentation and histopathology aligned with a malignant peripheral nerve sheath tumor, a diagnosis rendered at initial resection with concurrence by a national soft tissue tumor expert. The patient\'s exceptionally long survival could be due to NSD3 as the fusion partner, aided by the initial small tumor size and young patient age. Thus, this case expands NUT fusion sarcomas\' histologic and immunohistochemical profile to include mimicking a malignant peripheral nerve sheath tumor (MPNST). Additionally, it indicates that the NSD3::NUTM1 fusion can drive sarcoma genesis.

Neurofibromatosis 1 (NF1) is a rare genetic syndrome that leads to the development of neurofibromas and increases the risk of malignancy, including malignant peripheral nerve sheath tumors. Patients with NF1 often have other orthopaedic manifestations, including short stature, osteopenia, and dysplasia. A 47-year-old patient with a history of NF1 and multiple neurofibromas of the right lower extremity presented with a severe valgus deformity, instability, and osteoarthritis of the right knee that was debilitating to daily life. Over time, the patient lost proprioception and potentially some sensation to the right knee with neurofibroma formation, leading to the development of Charcot arthropathy of the right knee with secondary osteoarthritis. The preoperative workup consisted of a magnetic resonance imaging of the knee to confirm no malignancy was present and templating to ensure the standard implant size was amenable for the patient. A primary total knee arthroplasty was performed with a cemented-stemmed hinged knee implant. At 6 months post-surgery, the patient had a dramatic improvement in her pain and quality of life.

UNASSIGNED: Neurofibroma, a rare benign tumor of the peripheral nervous system, can manifest anywhere along a nerve from the dorsal ganglion to its terminal branches. Myxoid neurofibroma can present as a solitary non-tender nodule and is often confirmed by positive immunohistochemical staining for S-100 protein. However, in 50% of cases, neurofibromas are associated with neurofibromatosis.
UNASSIGNED: We present a case of a 34-year-old male with mild pain in the posterior part of his left thigh, accompanied by a slowly-growing swelling particularly noticeable when flexing his knee. It had gradually increased in size over several months, which the patient observed as a decrease in the degree of knee extension. Initial biopsy indicated schwannoma with no evidence of malignancy. Four years later, the swelling increased in size and necessitated resection surgery, revealing an irregular giant tumor measuring 8 *6 *4.5 cm, adherent to adjacent structures, including the femur, muscles, popliteal artery and vein, and a branch of the sciatic nerve. Pathological analysis reclassified the diagnosis to low-grade myxoid neurofibroma. Follow-up MRI three months later showed gross total resection without residual or recurrence of the tumor.
UNASSIGNED: Solitary neurofibromas are often small in size, ranging from 1 to 2 cm in the greatest dimension. Alternatively, tumors that occur as a part of genetic neurofibromatosis tend to be multiple and often grow to large sizes. In our case, the patient didn\'t have neurofibromatosis as he didn\'t meet its diagnostic criteria despite having a giant tumor measuring approximately 8*6*4.5 cm. To our knowledge, this is the first report of giant myxoid solitary neurofibroma of the thigh apart from neurofibromatosis. Thus, this type of tumor should be considered in the differential diagnosis of tumors at this location.

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: Although musculoskeletal involvement of Neurofibromatosis type 1 (NF1) has been well documented, bone formation, or ossification, within neurofibroma, has been scarcely documented in literature. Here, we report a rare case of ossified neurofibroma in a patient with long history of NF1.
METHODS: 73-Year-old female with childhood-onset NF1 and surgical history of resection for multiple neurofibromas, presented with right ptosis and eyebrow ptosis. A growing tumor on the right eyebrow was surgically resected. Microscopically, the dermal tumor consists of bland spindle cells with thin, wavy nuclei, without atypia, showing S100 immunoreactivity, consistent with neurofibroma. Multiple metaplastic bone formation composed of mature bone trabeculae surrounding adipose tissue were apparent.
CONCLUSIONS: Up to date, ossification of neurofibroma has been scarcely reported in literature. The etiology is unclear but might involve the response to chronic stress and tissue damage over the years, and/or might indicate the potential differentiation plasticity of mesenchymal stem cell-like population.
CONCLUSIONS: The unusual presentation of ossification provides insights on the pathogenesis and differentiation plasticity of neurofibroma.

To evaluate the efficacy and safety of minimally invasive tubular removal of spinal schwannoma and neurofibroma. In this single-centre study, we retrospectively analysed 49 consecutive patients who underwent minimally invasive removal of a total of 51 benign spinal nerve sheath tumors using a non-expandable (n = 18) or expandable tubular retractor (n = 33) retractor system between June 2007 and December 2019. The extent of resection, surgical complications, neurological outcome, operative time, and estimated blood loss were recorded. Histopathology revealed 41 schwannomas and 10 neurofibromas. After a mean follow-up of 30.8 months, postoperative MRI showed gross total resection in 93.7%, and subtotal resection in 6.3% of the tumors. Three patients were lost to follow up. Of the subtotal resections, one was a schwannoma (2.4% subtotal resections in schwannomas) and two were neurofibromas (20.0% subtotal resections in neurofibromas). Intraspinal and paraspinal tumor localizations were equally accessible by minimally invasive tubular surgery. Conversion to open surgery was not required in any case. The mean operative time was 167 ± 68 min, and estimated blood loss was 138 ± 145 ml. We observed no major surgical complications. Spinal schwannoma and neurofibroma can be removed effectively and safely using a minimally invasive tubular approach, with satisfying extent of tumor resection comparable to the conventional open surgical technique and no increased risk for neurological deterioration.