Cutaneous neurofibromas

Ortonne, Nicolas; Wolkenstein, Pierre; Blakeley, Jaishri O.; Korf, Bruce R.; Plotkin, Scott R.; Riccardi, Vincent M.; Miller, Douglas C.; Huson, Susan M.; Peltonen, Juha; Rosenberg, Andrew E.; Carroll, Steven L.; Verma, Sharad K.; Mautner, Victor; Upadhyaya, Meena; Stemmer‐Rachamimov, Anat

doi:10.1212/wnl.0000000000005792

Cited by 89 publications

(38 citation statements)

References 41 publications

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“…A sub-concussive collision is defined as a direct or indirect impact to the head during which mechanical forces transferred to the brain may alter axonal integrity without the presence of acute clinical or behavioural symptoms. This is in accordance with evolving theories that long-term exposure to such impacts may be associated with neurocognitive impairments ( Hart et al , 2013 ; Stamm et al , 2015 ; McAllister and McCrea, 2017 ; Cookinham and Swank, 2018 ) and possible increased likelihood for early development of neurodegenerative pathologies ( Baugh et al , 2012 ). Although this remains a topic of debate ( Asken et al , 2017 ; Deshpande et al , 2017 ; Broglio et al , 2018 ; Caccese et al , 2019 ), such evidence has motivated the need to uncover mechanisms relating repeated exposure to head impacts and changes in brain structure in order to improve the brain health of athletes.…”

Section: Introductionsupporting

confidence: 91%

Novel strain analysis informs about injury susceptibility of the corpus callosum to repeated impacts

Champagne

Peponoulas

Terem

et al. 2019

Brain Communications

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Increasing evidence for the cumulative effects of head trauma on structural integrity of the brain has emphasized the need to understand the relationship between tissue mechanic properties and injury susceptibility. Here, diffusion tensor imaging, helmet accelerometers and amplified magnetic resonance imaging were combined to gather insight about the region-specific vulnerability of the corpus callosum to microstructural changes in white-matter integrity upon exposure to sub-concussive impacts. A total of 33 male Canadian football players (meanage = 20.3 ± 1.4 years) were assessed at three time points during a football season (baseline pre-season, mid-season and post-season). The athletes were split into a LOW (N = 16) and HIGH (N = 17) exposure group based on the frequency of sub-concussive impacts sustained on a per-session basis, measured using the helmet-mounted accelerometers. Longitudinal decreases in fractional anisotropy were observed in anterior and posterior regions of the corpus callosum (average cluster size = 40.0 ± 4.4 voxels; P < 0.05, corrected) for athletes from the HIGH exposure group. These results suggest that the white-matter tract may be vulnerable to repetitive sub-concussive collisions sustained over the course of a football season. Using these findings as a basis for further investigation, a novel exploratory analysis of strain derived from sub-voxel motion of brain tissues in response to cardiac impulses was developed using amplified magnetic resonance imaging. This approach revealed specific differences in strain (and thus possibly stiffness) along the white-matter tract (P < 0.0001) suggesting a possible signature relationship between changes in white-matter integrity and tissue mechanical properties. In light of these findings, additional information about the viscoelastic behaviour of white-matter tissues may be imperative in elucidating the mechanisms responsible for region-specific differences in injury susceptibility observed, for instance, through changes in microstructural integrity following exposure to sub-concussive head impacts.

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Section: Introductionsupporting

confidence: 91%

Novel strain analysis informs about injury susceptibility of the corpus callosum to repeated impacts

Champagne

Peponoulas

Terem

et al. 2019

Brain Communications

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“…Both cutaneous and subcutaneous neurofibromas may develop at any time of life, but their number and size are usually small before puberty and then increase after puberty and continue throughout adulthood [ 311 ]. Both types of neurofibromas generally do not transform into malignancy, but have a significant role in NF1 patients’ quality of life, causing both aesthetic and social problems due to their numbers and disfigurement [ 309 , 312 ].…”

Section: Neurofibromatosismentioning

confidence: 99%

Understanding the Biological Activities of Vitamin D in Type 1 Neurofibromatosis: New Insights into Disease Pathogenesis and Therapeutic Design

Riccardi

Perrone

Napolitano

et al. 2020

Cancers

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Vitamin D is a fat-soluble steroid hormone playing a pivotal role in calcium and phosphate homeostasis as well as in bone health. Vitamin D levels are not exclusively dependent on food intake. Indeed, the endogenous production—occurring in the skin and dependent on sun exposure—contributes to the majority amount of vitamin D present in the body. Since vitamin D receptors (VDRs) are ubiquitous and drive the expression of hundreds of genes, the interest in vitamin D has tremendously grown and its role in different diseases has been extensively studied. Several investigations indicated that vitamin D action extends far beyond bone health and calcium metabolism, showing broad effects on a variety of critical illnesses, including cancer, infections, cardiovascular and autoimmune diseases. Epidemiological studies indicated that low circulating vitamin D levels inversely correlate with cutaneous manifestations and bone abnormalities, clinical hallmarks of neurofibromatosis type 1 (NF1). NF1 is an autosomal dominant tumour predisposition syndrome causing significant pain and morbidity, for which limited treatment options are available. In this context, vitamin D or its analogues have been used to treat both skin and bone lesions in NF1 patients, alone or combined with other therapeutic agents. Here we provide an overview of vitamin D, its characteristic nutritional properties relevant for health benefits and its role in NF1 disorder. We focus on preclinical and clinical studies that demonstrated the clinical correlation between vitamin D status and NF1 disease, thus providing important insights into disease pathogenesis and new opportunities for targeted therapy.

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“…Plexiform neurofibromas are congenital deep tumours involving nerve plexus below the dermis with a risk of sarcomatous transformation; intraneural neurofibromas grow in the peripheral nerves; subcutaneous neurofibromas occur along the peripheral nerves beneath the skin; and cutaneous neurofibromas ([cNF] also called dermal neurofibromas) are benign tumours that grow from small nerves present in and/or just under the skin. Clinically they look like well-defined cutaneous lesions, small bumps typically beginning around the time of puberty [6, 7]. cNF affect 99% of NF1 patients, starting from puberty and increasing in size and number with age [1, 8].…”

Section: Introductionmentioning

confidence: 99%

Cutaneous neurofibromas: patients’ medical burden, current management and therapeutic expectations: results from an online European patient community survey

Guiraud

Bouroubi

Beauchamp

et al. 2019

Orphanet J Rare Dis

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BackgroundNeurofibromatosis type 1 is an inherited condition with variable phenotypic expression and a high medical and social burden.The objectives of this patient survey were to better understand the real-world experiences of patients living with cutaneous neurofibromas (cNF), to perceive their satisfaction and feelings about cNF current management (only laser and surgery are currently available), and to highlight their expectations of new therapeutic modalities.ResultsOne hundred seventy patients from 4 European countries took part in the study, 65% (n = 110) were women and mean age was 39 years old. 96% (n = 164) of respondents have cNF on visible parts of the body and the survey confirmed that total number of cNF and visibility increase with age.Patients reported that cNF mainly impacts everyday mood, general daily life and social life. The visibility of cNF had a higher impact than their number.92% (n = 156) of patients have a regular and multidisciplinary medical follow-up. The dermatologist is one of the most consulted healthcare professionals.76% (n = 130) of respondents have treated their cNF: 65% (n = 111) had surgery and 38% (n = 64) had multiple laser sessions. Frequency of operations and regrowth of cNF were the two most unsatisfactory aspects with both treatments for patients. Indeed, after removal, new cNF appear in more than 75% (n = 128) of cases.As a future treatment, patients expected a topical (30%, n = 51) or oral medication (29%, n = 50). Around 2 out of 3 patients would agree to take it at least once a day or more for life but they would like a well-tolerated treatment.According to patients, the most important effectiveness criteria of a new treatment are to block cNF growth and reduce their number. 70% (n = 119) of patients would consider a future treatment moderately effective to very effective if it could clear 30% of cNF.ConclusionsThis first cNF European patient community survey confirmed that the visible stigma and unaesthetic aspect of cNF have an important impact on patients’ quality of life. The survey highlighted that patients were not entirely satisfied with the actual surgery and laser treatments and revealed their clear and realistic expectations for future treatment of cNF.

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Cutaneous neurofibromas

Cited by 89 publications

References 41 publications

Novel strain analysis informs about injury susceptibility of the corpus callosum to repeated impacts

Novel strain analysis informs about injury susceptibility of the corpus callosum to repeated impacts

Understanding the Biological Activities of Vitamin D in Type 1 Neurofibromatosis: New Insights into Disease Pathogenesis and Therapeutic Design

Cutaneous neurofibromas: patients’ medical burden, current management and therapeutic expectations: results from an online European patient community survey

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