Neurofibromatosis is normally a benign (non-cancerous) condition. NF is a range of genetic disorders which cause tumours to grow along various types of nerves and can also affect the bones and skin. The majority of cases are von Recklinghausen's Disease (NF type 1) often characterised by cafe-au-lait spots on the skin. Neurofibromatosis 2 (NF2) is much rarer, this is characterised by multiple tumours on the nerves of the brain and spine, and can affect hearing.
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MeSH term: Neurofibromatoses
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Neurofibromatosis type 1 with tarsal conjunctiva thickening: A case report.
Medicine (Baltimore). 2019; 98(31):e16699 [PubMed] Related Publications
PATIENT CONCERNS: A 46-year-old female patient was diagnosed with neurofibroma after biopsy and removal of 2 lumbar level intradural masses 15 years ago. She was being monitored without recurrence. When the patient visited our hospital, multiple iris Lisch nodules were found in both her eyes with ill-defined, diffuse thickening in the upper eyelid tarsal conjunctiva of the right eye.
DIAGNOSIS: Neurofibroma was diagnosed by incisional biopsy and immunohistochemistry of the tarsal conjunctiva.
INTERVENTIONS: The patient of the present case did not undergo any additional surgical treatment because tarsal conjunctiva thickening caused little functional problem.
OUTCOMES: The patient has only been regularly examined for changes in size of neurofibroma, and there was no change in size over a 12-month period.
LESSONS: Neurofibroma should be considered as a differential diagnosis if a patient diagnosed with NF1 shows tarsal conjunctiva thickening.
Neurofibromatosis Type 1 Associated with Hashimoto's Thyroiditis.
J Assoc Physicians India. 2018; 66(8):91-92 [PubMed] Related Publications
Neurofibromatosis Type 1: A Population-Based Study.
J Pediatr Ophthalmol Strabismus. 2019; 56(4):243-247 [PubMed] Related Publications
METHODS: The medical records of all patients diagnosed as having neurofibromatosis type 1 while residing in Olmsted County, Minnesota, from January 1, 1980, through December 31, 2009, were retrospectively reviewed.
RESULTS: Fifty patients were diagnosed as having neurofibromatosis type 1 during the 30-year period, yielding an incidence of 1.2 per 100,000 individuals. The mean age at diagnosis was 11.7 years (95% confidence interval [CI]: 0.2 to 47) and 26 (52%) were males. Twenty-eight patients were new mutations, yielding a de novo mutation rate of 56%. During a mean follow-up of 9.8 years (range: 3 weeks to 32 years), café-au-lait macules were diagnosed in 49 individuals (98%), neurofibromas in 26 (52%), and skeletal anomalies in 14 (28%). Three (5.9%) individuals were diagnosed as having glioma of the central nervous system (95% CI: 1.2 to 9.7%) at a mean age of 13 years (range: 5 to 26 years), including 1 patient with optic nerve glioma diagnosed at the age of 26 years. Only 1 (2%) patient was diagnosed as having malignant nerve sheath tumor.
CONCLUSIONS: Although the prevalence and de novo mutation rate of neurofibromatosis type 1 in this population-based study were similar to prior reports, the occurrence of optic nerve gliomas was much lower. [J Pediatr Ophthalmol Strabismus. 2019;56(4):243-247.].
Evaluation of QoL in neurofibromatosis patients: a systematic review and meta-analysis study.
BMC Neurol. 2019; 19(1):123 [PubMed] Free Access to Full Article Related Publications
METHODS: This article is written according to the PRISMA checklist. Different databases including PubMed, Scopus, Google scholar and Web of Science were searched to identify studies that examined QoL of patients with neurofibromatosis. The relevant data obtained from these papers were analyzed by a random-effects model. The heterogeneity of studies was calculated using the I
RESULTS: Twelve studies were selected as eligible for this research and were included in the final analysis. The number of participants in the study was 7314 individuals containing 910 NF patients (642 NF1 and 268 NF2) and 6404 healthy subjects. The mean scores of sub-scales of QoL were significantly lower in NF patients compared with control except for the scale of cohesion. Family and NF patients had lower quality of life in all aspects of QoL than controls. Also, this meta-analysis shows that NF negatively effects on physical function, bodily pain, mental health, social function and general health. Subgroup analysis showed that NF had negative effects on all sub-scales of QoL if the study was conducted in adults and used a SF-36 questionnaire.
CONCLUSION: This meta-analysis suggests that NF is a broad spectrum disease, affecting physical function, bodily pain, mental health, social function and general health.
The mast cell - neurofibromatosis connection.
J Biol Regul Homeost Agents. 2019 May-Jun,; 33(3):657-659 [PubMed] Related Publications
Ocular alterations, molecular findings, and three novel pathological mutations in a series of NF2 patients.
Graefes Arch Clin Exp Ophthalmol. 2019; 257(7):1453-1458 [PubMed] Related Publications
METHODS: Eye examination was performed in eight NF2 patients, and it included the measurement of the visual acuity, biomicroscopy, dilated fundus examination, color fundus photography, infrared photography, and spectral domain optical coherence tomography (SD-OCT). Molecular analysis was performed with whole-exome sequencing using DNA derived from peripheral blood mononuclear cells from each individual.
RESULTS: Ophthalmological features were present in all patients, ranging from subtle retinal alterations identified only using SD-OCT to severe ocular damage present at birth. Six mutations were observed: two patients with stop codon mutation as shown on table 1 and result section, three patients with frameshift mutation as shown on table 1 and result section. Three novel mutations were found among them.
CONCLUSIONS: It is a descriptive study of a rare disease, with poor previous literature. Clinical and genetic data are shown, reviving the need to further studies to clarify the genotype-phenotype correlations in NF2.
Multiple Cerebral Aneurysms Associated With Neurofibromatosis Type 1.
J Stroke Cerebrovasc Dis. 2019; 28(7):e83-e91 [PubMed] Related Publications
Renal Autotransplant and Celiac Artery Bypass for Aneurysmal Degeneration Related to Neurofibromatosis Type 1.
Vasc Endovascular Surg. 2019; 53(6):497-500 [PubMed] Related Publications
A case report of revision occipital-cervical fusion after atlanto-axial instrumentation failure for neurofibromatosis type I.
BMC Surg. 2019; 19(1):44 [PubMed] Free Access to Full Article Related Publications
CASE PRESENTATION: We report a case of neurofibromatosis with atlanto-axial dislocation. The chief complaints were numbness of the upper limb and gait disturbance. We performed short fusion using the Brooks method. However, recurrence of the dislocation was found after 5 months recovery, and the patient underwent posterior fusion from the occipital bone to C4. Thereafter, she had a good postoperative course.
CONCLUSIONS: Neurofibromatosis patients often exhibit a low bone mineral density because of dystrophic changes, and are prone to fragile bones. In the present case, the use of long fusion at the first surgery may have helped to form a strong fusion of fragile bone.
Spontaneous rotational dislocation of the lumbar spine in type 1 neurofibromatosis: A case report and literature review.
Medicine (Baltimore). 2019; 98(16):e15258 [PubMed] Free Access to Full Article Related Publications
PATIENT CONCERNS: A 51-year-old lady presented with severe back pain and no history of trauma, fever, or loss of weight. On examination, she showed several café-au-lait spots on her body and no neurologic deficit.
DIAGNOSES: The imageology revealed a rotational dislocation of the L2 to L3. The diagnosis of neurofibroma was confirmed by biopsy.
INTERVENTIONS: The patient underwent posterior reduction, combined intervertebral-posterolateral fusion, and internal fixation with screws and rods.
OUTCOMES: The patient was satisfied with the back pain relief after surgery and able to live a normal life at follow-up. The imageology showed a good correction of the deformity with a solid bony fusion.
LESSONS: Special attention must be paid to patients who have neurofibromatosis and unexplained back pain for early diagnosis. Early circumferential fusion to reconstruct a stable spine is the key to treatment. Given the result of this case, the prognosis is promising following posterior surgery alone.
Pharmacoresistant seizures in neurofibromatosis type 1 related to hippocampal sclerosis: Three case presentation and review.
J Clin Neurosci. 2019; 64:14-17 [PubMed] Related Publications
Non-odontogenic Intraosseous Radiolucent Lesions of the Mandibular Body Are Rare Findings on Panoramic Views of Patients With Neurofibromatosis Type 1.
Anticancer Res. 2019; 39(4):1971-1985 [PubMed] Related Publications
MATERIALS AND METHODS: The panoramic radiographs of 179 NF1 patients were analysed for translucent lesions of the mandibular body that were of intraosseous, non-odontogenic origin. The results were compared to findings obtained in panoramic radiographs of age- and sex-matched controls.
RESULTS: Only three patients showed intraosseous translucent lesions. These were always unilocular findings. There were no statistically significant differences between the groups (p=0.248).
CONCLUSION: Intraosseous neurofibroma of the jaw is a very rare finding in NF1 patients compared to oral neurofibromas. Accurate and exact diagnosis should be made in the case of such findings because malignant tumours in the jaw area can arise in rare cases in NF1 patients. Plain radiology findings cannot clearly indicate the type and biology of the lesion.
Neurofibromatosis type I with malignant peripheral nerve sheath tumors in the upper arm: A case report.
Medicine (Baltimore). 2019; 98(13):e15017 [PubMed] Free Access to Full Article Related Publications
PATIENT CONCERNS: A 24-year-old man presented with a mass in the medial part of the left upper arm that had been present for more than 20 years. In the previous 1 year prior to admission, the mass had grown significantly. Physical examination showed cafe-au-lait spots of variable sizes throughout the body and multiple masses in the medial part of the left upper arm. Three months later after the resection of the masses, the patient was readmitted to our department due to tumor recurrence. Two months after the extended resection, in situ recurrence of the tumor was noted again. Four months after the operation and the administration of radiotherapy, a mass was found in the outside of the left upper arm.
DIAGNOSIS: Immunohistochemical staining showed the masses were positivity for vimentin, CD34, and S100; the tumor cells were negative for PGP9.5, CD57, EMA, and SMA. The Ki-67 labeling index was approximately 40%. A diagnosis of malignant peripheral nerve sheath tumor was made.
INTERVENTIONS: Surgical resection was performed for both the primary tumors and the 2 subsequent recurrence tumors. The patient underwent radiotherapy with 60 Gy in 30 fractions after the third operation. Four months after the administration of radiotherapy, the patient underwent tumorectomy of a mass in the outside of the left upper arm.
OUTCOMES: During the 4-month follow-up after the fourth operation, the patient's condition was stable.
LESSONS: Malignant peripheral nerve sheath tumor in NF1 is an exceedingly rare entity that poses a great diagnostic challenge. High-frequency ultrasound can support the diagnosis.
Treatment of early-onset scoliosis with growing rods in patients with neurofibromatosis-1.
J Pediatr Orthop B. 2019; 28(3):278-287 [PubMed] Related Publications
The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas.
Mol Genet Genomic Med. 2019; 7(5):e616 [PubMed] Free Access to Full Article Related Publications
METHODS: Sequencing of NF1 in patients with cafè-au-lait spots identified the c.3112A>G variant. RNA analysis and a minigene assay were employed to investigate splicing.
RESULTS: Here we report a novel genotype-phenotype correlation in NF1: the identification of the missense variant NM_000267.3:c.3112A>G p.(Arg1038Gly) in seven individuals from two unrelated families with a mild phenotype. All the patients manifest cafè-au-lait spots without neurofibromas or other NF1-associated complications, and Noonan syndrome features in most cases. The missense variant was not previously reported in available databases, segregates with the phenotype and involves a highly conserved residue. Both a minigene assay and patient's RNA analysis excluded an effect on splicing.
CONCLUSION: Our data support the correlation of the p.Arg1038Gly missense substitution with the cutaneous phenotype without neurofibromas or other complications. This finding may have relevant implications for patients and genetic counseling, but also to get insights into the function of neurofibromin.
Caring for children with neurofibromatosis type 1.
Nursing. 2019; 49(4):30-36 [PubMed] Related Publications
A characteristic type of retinal microvascular abnormalities in a patient with Neurofibromatosis type 1.
Clin Ter. 2019 Jan-Feb; 170(1):e4-e9 [PubMed] Related Publications
NF1 Somatic Mutation in Dystrophic Scoliosis.
J Mol Neurosci. 2019; 68(1):11-18 [PubMed] Related Publications
Visuoperceptual Impairment in Children with NF1: From Early Visual Processing to Procedural Strategies.
Behav Neurol. 2019; 2019:7146168 [PubMed] Free Access to Full Article Related Publications
Manifestations and Treatment of Adult-onset Symptomatic Optic Pathway Glioma in Neurofibromatosis Type 1.
Anticancer Res. 2019; 39(2):827-831 [PubMed] Related Publications
Atypical teratoid rhabdoid tumor mimicking type II neurofibromatosis: A case report.
Medicine (Baltimore). 2019; 98(5):e14308 [PubMed] Free Access to Full Article Related Publications
PATIENT CONCERNS: A 1-year-and-7-month-old boy admitted to our department with a 7-day history of drowsiness and 2-day history of emesis, and his presenting complaint was repeated vomit. On physical examination, he had drowsiness, positive sun set sign, slow light reflection, high muscular tension of limbs and 55 cm head circumference. MRI presented masses of bilateral auditory nerve distribution area, the fourth ventricle and right frontal lobe, obstructive hydrocephalus, and amplified cisterna magna. Particularly, dumbbell shape tumor in left cerebellopontine angle area and the fourth ventricle showed iso- or hypo-intensity on T1-weighted image and mix-intensity on T2-weighted image with irregular frontier, obvious mutual high and low signal on T2-weighted image, and growing along cerebrospinal fluid pathway.
DIAGNOSIS: The diagnosis of type II neurofibromatosis (NF-II) was considered pre-operatively. After surgery, postoperative histopathology confirmed the diagnosis of ATRT.
INTERVENTIONS: After ventriculo-peritoneal (VP) shunt, no evidence of tumor was inspected in cerebrospinal fluid, and enhancement MRI showed heterogeneous contrast signal on dumbbell shape tumor. We executed an incomplete microsurgery for dumbbell shape lesion in left auditory nerve distribution area and the fourth ventricle for differential diagnosis and facilitating further treatment.
OUTCOMES: The patient did not recover well postoperatively and suffered from severe pulmonary infection. Refusing further intervention in view of poor prognosis of ATRT, the patient was transferred to another hospital for rehabilitation care. The patient died from progressive tumor and respiratory failure after 2 months.
LESSONS: The diagnosis of ATRT can be challenging, in our case due to the disturbance of bilateral auditory nerve distribution area tumors. Under MRI, Irregular frontier, obvious mutual high and low signal on T2-weighted image, growing along cerebrospinal fluid pathway, and heterogeneous contrast enhancement should lead the clinician to strongly consider ATRT.
Isolated giant ileal neurofibroma sans neurofibromatosis.
Indian J Cancer. 2018 Jul-Sep; 55(3):301-303 [PubMed] Related Publications
Comparison of multi-shot and single shot echo-planar diffusion tensor techniques for the optic pathway in patients with neurofibromatosis type 1.
Neuroradiology. 2019; 61(4):431-441 [PubMed] Related Publications
METHODS: Healthy controls, children with NF1 without OG, and NF1 with OG ± visual symptoms were included. All subjects were scanned with both rsDTI and ssDTI sequences sequentially. Diffusion metrics and deterministic fiber tracking were calculated. Tract count, volume, and length were also compared by a two-factor mixed ANOVA.
RESULTS: Five healthy controls, 7 NF1 children without OG, and 12 NF1 children with OG were imaged. Six OG patients had visual symptoms. Four subjects had no detectable optic pathway fibers on ssDTI due to susceptibility, for which rsDTI was able to delineate. Tract count (p < 0.001), tract volume (p < 0.001), and FA (P < 0.001) were significantly higher for rsDTI versus ssDTI for all subjects. MD (p < 0.001) and RD (p < 0.001) were significantly lower for rsDTI vs ssDTI. Finally, MD, AD, and RD had a significantly lower difference in NF1 children with visual symptoms compared to NF1 children without visual symptoms only on ssDTI scans.
CONCLUSION: DTI with readout-segmented multi-shot EPI technique can better visualize the optic pathway and allow more confident measurements of anisotropy in NF1 patients. This is shown by a significant increase in FA, tract count, and volume with rsDTI versus ssDTI.
Home practice and quality of life among patients with neurofibromatosis randomized to a mind-body intervention.
Complement Ther Med. 2019; 42:114-118 [PubMed] Related Publications
METHODS: Data are derived from a single-blind RCT of the 3RP-NF (N = 31) delivered via videoconferencing versus an attention placebo control. 3RP-NF participants submitted weekly home practice logs to the group leader prior to each weekly session, which included information regarding their engagement of relaxation response (RR)-eliciting skills and appreciation skills. Physical, psychological, social and environmental QoL were measured at baseline, post-intervention and at a 6-months follow up.
RESULTS: Participants reported engaging in home practice of RR-eliciting skills on average 28.55 days (SD = 10.79) and appreciation skills on average 24.39 days (SD = 13.48) over the 49-day treatment period. Participants reported an average of 383.42 (SD = 274.38) minutes of RR-eliciting skills home practice and an average of 49.13 (SD = 41.90) appreciations skills home practice. A significant association was observed between frequency of RR-eliciting skills home practice and physical QoL at the 6-month follow-up (r = .383, p = .034).
CONCLUSIONS: Participants with NF are able and willing to practice RR-eliciting skills and appreciation skills outside of treatment sessions. Frequency of RR-eliciting skills home practice may be associated with improvement in physical QoL. Future research should replicate these efforts with larger samples, and attempt to identify additional factors that predict optimal response to mind-body interventions other than home practice.
Recurrent vulvar melanoma in a patient with neurofibromatosis and gastrointestinal stromal tumour.
BMJ Case Rep. 2019; 12(1) [PubMed] Related Publications
Novel Three-Dimensional Morphometry to Reassess Orbit Deformities Associated With Orbital-Periorbital Plexiform Neurofibroma.
J Craniofac Surg. 2019 Mar/Apr; 30(2):e147-e151 [PubMed] Related Publications
METHODS: We retrospectively reviewed 29 patients with OPPN, and another 29 disseminated cutaneous neurofibroma patients served as controls. All patients had undergone craniofacial computed tomography and 3D reconstruction. New morphometry was used to measure the area of the orbital rim (OR) and superior orbital fissure (SOF).
RESULTS: For the 29 patients with OPPN, the area of the OR at the affected side was 14.18 ± 3.50 cm, while the OR at the nonaffected side was 12.32 ± 1.38 cm. In addition, the area of the SOF at the affected side was 5.37 ± 5.75 cm, while that at the nonaffected side was 1.27 ± 1.03 cm. The OR and SOF at the affected side are more likely to become enlarged compared with those at the nonaffected side. Among the 29 patients with OPPN, the novel morphometry could be performed in 19 cases (65.5%) that cannot be measured by previous morphometry.
CONCLUSION: The novel morphometry is convenient and reproducible, which optimizes its application in pathologic cases, especially those involving deformed orbits.
Duodenal somatostatinoma presenting as obstructive jaundice with the coexistence of a gastrointestinal stromal tumour in neurofibromatosis type 1: a case with review of the literature.
BMJ Case Rep. 2019; 12(1) [PubMed] Related Publications
A cerebellopontine angle mouse model for the investigation of tumor biology, hearing, and neurological function in NF2-related vestibular schwannoma.
Nat Protoc. 2019; 14(2):541-555 [PubMed] Free Access to Full Article Related Publications
Identification of myeloid-derived suppressor cells that have an immunosuppressive function in NF2 patients.
J Cancer Res Clin Oncol. 2019; 145(2):523-533 [PubMed] Related Publications
METHODS: We analyzed the expression of cytokines in the serum of NF2 patients and determined the percentage of HLA-DR
RESULTS: NF2 patients are in an immunosuppressed state with elevated IL-10 and TGF-β expression in plasma and the lymphocytes from NF2 patients secrete less IFN-γ and CD3
Arteriovenous Fistula Inside Cervical Spinal Canal Associated with Neurofibromatosis Type 1.
World Neurosurg. 2019; 123:283-285 [PubMed] Related Publications
CASE DESCRIPTION: We report a case of a 33-year-old woman with NF-1 with cervical spine AVF inside the cervical spinal canal who presented with progressive spinal cord compression which was abnormal. After sufficient preparation, the patient underwent vascular embolization, and then symptoms of spinal cord compression significantly improved.
CONCLUSIONS: This report reminds readers of the possibility of AVF if there is a space-occupying lesion inside the cervical spinal canal and to do computed tomography angiography examination when necessary.