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Objective: To investigate the risk and pattern of tumors in italian neurofibromatosis type 1 (NF1) patients., Materials and Methods: A retrospective single institution case review of 711 patients (seen between March 1992 and February 2018) with NF1 was conducted to identify individuals with diagnoses of both NF1 and neoplasm. NF1-associated tumors have been collected and analyzed., Results: We identified 221 tumors in 191 subjects with a percentage of 26.9%, diagnosed at a median age of 32.5 years (range, 0.6-70.1 years); 111 of these patients were females (58%) and all were fol-lowed up for a median of 5.3 years. The cumulative risks for tumor in patients with NF1 by the ages of 30 and 60 years were 10% and 42.5%, respectively. In our patients with tumor, overall survival at 70 years was significantly shorter than in those without it (50% vs 95%, P<0.0001). We found an unequivocally increased incidence for breast cancer in females (33 cases observed)., Conclusions: Tumors that develop in patients with NF1 are heterogeneous, our data are consistent with other reports suggesting an increase in some cancers risk among these individuals, therefore systematic medical follow-up in people with NF1 is important.

Objective: Neurofibromatosis 1 (NF1) is a chronic medical disease that often presents with psychiatric disorders. We investigated suicidal ideation in NF1 patients compared to healthy controls. We also evaluated whether hopelessness, depressive symptoms and perceived disability may mediate suicidal ideation in patients with NF1., Methods: We enrolled 60 patients with NF1 and 50 healthy controls with no history of NF1. Patients underwent a full psychiatric evaluation. Psychiatric diagnosis was made according to Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-5) criteria. Patients and controls underwent a series of psychometric measures, namely the Columbia Suicide Severity Rating Scale, the Beck Hopelessness Scale, the Italian Perceived Disability Scale and the Beck Depression Inventory., Results: Suicidal ideation was significantly higher in patients with NF1 (45%) than in controls (10%). Patients also presented more severe perceived disability and hopelessness and more frequent psychiatric disorders than controls. Multivariable logistic regression analysis showed that perceived disability was independently associated with the presence of suicidal ideation in patients with NF1., Conclusions: In conclusion, our results showed that suicidal ideation was present in almost half of patients with NF1, suggesting the importance of suicide assessment in these patients.Key pointsPatients with NF1 have an increased suicide ideation when compared to healthy controlsIncreased suicidal ideation correlates with perceived disability, but not with the presence of psychiatric disordersAssessment of suicidal ideation should be performed in patients with NF1.

Objective: To better understand the real prevalence of cutaneous manifestations, in Neurofibromatosis type 1., Materials and Methods: We reviewed all clinical charts of 1102 NF1 patients followed by February 1983 to February 2020 at the "Sapienza" University of Rome, Italy. NF1 patients are seen usually every year by a dermatologist., Result: Café-au-lait macules were shown in 1063 patients (96.5%), axillary and inguinal freckling in 991 (90%) and neurofibromas in 861 (78.1%). Other skin manifestations included: lipoma (6.2%), nevus anemicus (3.9%), psoriasis (3.4%), spilus nevus (3.2%), juvenile xanthogranuloma (3.2%), vitiligo (2.3%), Becker's nevus (1.9%), melanoma (0.7%) and poliosis (0.5%)., Conclusion: Neurofibromatosis type 1 is a multisystem disorder primarily involving the skin and nervous system. The clinical manifestations are extremely variable even within a family. This study was performed to delineate the prevalence of cutaneous manifestations in NF1.

Purpose: The aim of this study is to evaluate ocular surface morphological and functional changes in patients with neurofibromatosis type 1 (NF1)., Methods: Twenty-eight patients with NF1 and 14 healthy subjects were included in this study. All participants underwent a medical history collection, a complete ophthalmological examination including slit lamp exam and assessment of best-corrected visual acuity (BCVA), corneal sensitivity, and lacrimal function (Schirmer test and fluorescein tear break-up time test). Corneal nerves' morphology and endothelial cells density were evaluated by in vivo corneal confocal microscopy (IVCM). Tear and conjunctiva epithelium samples were collected to evaluate nerve growth factor (NGF) and brain-derived neurotrophic factor (BDNF) tear levels and conjunctival expression of their receptors TrkA and p75NTR., Results: Patients with NF1 showed a significant decrease of FTBUT when compared with healthy subjects (p < 0.001). Corneal sensitivity was ≤ 50 mm in 46% of NF1 patients. IVCM showed a significant increase of corneal nerve branching and of corneal endothelial cells density. No significant difference was observed between the two groups on NGF and BDNF tear levels and conjunctival expression of their receptors., Conclusion: This study demonstrated the presence of ocular surface changes in NF-1 patients including decrease of tear stability and of corneal sensitivity. Patients with NF1 also showed changes of corneal endothelial cells' density.

Purpose: The aim of this study was to provide a classification of the different retinal vascular arrangements in neurofibromatosis 1 (NF1), with appropriate qualitative and quantitative information., Methods: This study was conducted on 334 consecutive patients with NF1 and 106 sex-matched and age-matched healthy control subjects. Each patient underwent a comprehensive ophthalmological examination inclusive of near-infrared reflectance retinography by using the spectral domain Optical coherence tomography (OCT), a complete dermatological examination and 1.5 T MRI scan of the brain to assess the presence of optic nerve gliomas. To evaluate the predictability and the diagnostic accuracy of our identified retinal microvascular arrangements, we calculated the diagnostic indicators for each pattern of pathology, with corresponding 95% CI. In addition, we evaluated the association between the microvascular arrangements and each National Institutes of Health diagnostic criteria., Results: Microvascular abnormalities were detected in 105 of 334 NF1 patients (31.4%), the simple vascular tortuosity was recognised in 78 of 105 cases (74.3%) and whether the corkscrew pattern and the moyamoya-like type showed a frequency of 42.8% (45 of 105 cases) and 15.2% (16 of 105 cases), respectively. We found a statistically significant correlation between the presence of retinal microvascular abnormalities and the patient age (p=0.02) and between the simple vascular tortuosity, the patient age and the presence of neurofibromas (p=0.002 and p=0.05, respectively)., Conclusions: We identified microvascular alterations in 31.4% of patients and a statistically significant association with patient age. Moreover, the most frequent type of microvascular alterations, the simple vascular tortuosity, resulted positively associated with age and with the presence of neurofibromas., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.)

Purpose: Only a few reports in the literature have investigated the presence of ocular abnormalities in neurofibromatosis type 1 (NF-1) patients. The aim of this study was to evaluate the prevalence of ocular abnormalities in a large population of NF1 patients, focusing on the choroidal changes., Methods: This study was conducted on 160 consecutive patients with NF1 and 106 sex- and age-matched healthy subjects (control). Each patient underwent a complete ophthalmological examination inclusive of best-corrected visual acuity, intraocular pressure measurement, slit-lamp biomicroscopy, indirect fundus biomicroscopy, and near-infrared reflectance (NIR) retinography by using the spectral domain OCT. Moreover, all patients underwent complete dermatological exam and 1.5-Tesla MRI scan of the brain to assess the presence of optic nerve gliomas., Results: Choroidal abnormalities were detected in 97% of patients, with a positive predictive value of 100% and a negative predictive value of 96.4%. Interestingly, a small number of patients (4/160; 2.5%) showed Lisch nodules without choroidal abnormalities, whereas a larger number of patents (22/160; 13.75%) presented choroidal lesions in absence of Lisch nodules. None of the patients showed the absence of both choroidal lesions and Lisch nodules. The number of choroidal lesions increased with age (r = 0.364, p = 0.0001) and with the severity of pathology (r = 0.23, p = 0.003). Any statistically significant correlation between choroidal lesions, visual acuity, and intraocular pressure was observed., Conclusions: NIR imaging represents an in vivo, non-invasive, sensitive and reproducible exam to detect choroidal nodules in NF-1 patients, suggesting that choroidal changes may represent an additional diagnostic criteria for NF1.

Objective: To evaluate the possible correlation and the true incidence between Neurofibromatosis type 1 and Arnold-Chiari malformation type I., Materials and Methods: We reviewed all clinical charts, neurological consultations and MRI scans of 428 NF1 patients followed by 1994 to 2014 in our Department. NF1 patients in our clinic are seen usually every year by both the dermatologist and the neurologist. All patients also undergo a brain and spinal cord with the same 1.5 Tesla MRI scan., Results: We found a diagnosis of Arnold Chiari malformation type I in 9 of the 428 NF1 cases (2%)., Conclusion: This frequency is higher than that expected on the basis of a chance association. Therefore we underline the importance of serial MRI studies in patients with NF1 to assess the presence of cranio-cervical anomalies. Future studies should try to better understand what are the pathogenetic mechanisms underlying this close association.

Objective. To investigate the risk and pattern of tumors in italian neurofibromatosis type 1 (NF1) patients. Materials and Methods. A retrospective single institution case review of 711 patients (seen between March 1992 and February 2018) with NF1 was conducted to identify individuals with diagnoses of both NF1 and neoplasm. NF1-associated tumors have been collected and analyzed. Results. We identified 221 tumors in 191 subjects with a percentage of 26.9%, diagnosed at a median age of 32.5 years (range, 0.6-70.1 years); 111 of these patients were females (58%) and all were followed up for a median of 5.3 years. The cumulative risks for tumor in patients with NF1 by the ages of 30 and 60 years were 10% and 42.5%, respectively. In our patients with tumor, overall survival at 70 years was significantly shorter than in those without it (50% vs 95%, P<0.0001). We found an unequivocally increased incidence for breast cancer in females (33 cases observed). Conclusions. Tumors that develop in patients with NF1 are heterogeneous, our data are consistent with other reports suggesting an increase in some cancers risk among these individuals, therefore systematic medical follow-up in people with NF1 is important. [ABSTRACT FROM AUTHOR]

Neurofibromatosis type 1 (NF1), is a rare genetic disorder that may involve almost every organ system in the body such as cutaneous, ophthalmologic and central and peripheral nervous system. Cutaneous findings are usually the first sign of the disease. In this study, we investigate the real prevalence of xanthogranulomas juvenile (JXG) and possible correlation with lymphoproliferative diseases. This is a retrospective study conducted on a population with NF1 followed by February 1983 to February 2022 at the “Sapienza” University of Rome, Italy. We investigate the real prevalence of juvenile xanthogranuloma in NF1 and possible correlation with lymphoproliferative diseases. JXG was present in 39 cases (3.1%). JXG is more frequent in NF1 than in the general population while the possible association with lymphoproliferative diseases in NF1 remains controversial. [ABSTRACT FROM AUTHOR]

Objective. To better understand the real prevalence of cutaneous manifestations, in Neurofibromatosis type 1. Materials and Methods. We reviewed all clinical charts of 1102 NF1 patients followed by February 1983 to February 2020 at the “Sapienza” University of Rome, Italy. NF1 patients are seen usually every year by a dermatologist. Results. Café-au-lait macules were shown in 1063 patients (96.5%), axillary and inguinal freckling in 991 (90%) and neurofibromas in 861 (78.1%). Other skin manifestations included: lipoma (6.2%), nevus anemicus (3.9%), psoriasis (3.4%), spilus nevus (3.2%), juvenile xanthogranuloma (3.2%), vitiligo (2.3%), Becker’s nevus (1.9%), melanoma (0.7%) and poliosis (0.5%). Conclusions. Neurofibromatosis type 1 is a multisystem disorder primarily involving the skin and nervous system. The clinical manifestations are extremely variable even within a family. This study was performed to delineate the prevalence of cutaneous manifestations in NF1. [ABSTRACT FROM AUTHOR]

Purpose: The aim of this study is to evaluate ocular surface morphological and functional changes in patients with neurofibromatosis type 1 (NF1). Methods: Twenty-eight patients with NF1 and 14 healthy subjects were included in this study. All participants underwent a medical history collection, a complete ophthalmological examination including slit lamp exam and assessment of best-corrected visual acuity (BCVA), corneal sensitivity, and lacrimal function (Schirmer test and fluorescein tear break-up time test). Corneal nerves' morphology and endothelial cells density were evaluated by in vivo corneal confocal microscopy (IVCM). Tear and conjunctiva epithelium samples were collected to evaluate nerve growth factor (NGF) and brain-derived neurotrophic factor (BDNF) tear levels and conjunctival expression of their receptors TrkA and p75NTR. Results: Patients with NF1 showed a significant decrease of FTBUT when compared with healthy subjects (p < 0.001). Corneal sensitivity was ≤ 50 mm in 46% of NF1 patients. IVCM showed a significant increase of corneal nerve branching and of corneal endothelial cells density. No significant difference was observed between the two groups on NGF and BDNF tear levels and conjunctival expression of their receptors. Conclusion: This study demonstrated the presence of ocular surface changes in NF-1 patients including decrease of tear stability and of corneal sensitivity. Patients with NF1 also showed changes of corneal endothelial cells' density. [ABSTRACT FROM AUTHOR]