Mosaic Neurofibromatosis Type 1 in Children: A Single-Institution Experience

2017 ◽  
Vol 21 (5) ◽  
pp. 379-382 ◽  
Author(s):  
Irene Lara-Corrales ◽  
Mitra Moazzami ◽  
Maria Teresa García-Romero ◽  
Elena Pope ◽  
Patricia Parkin ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Cross Sectional Study ◽  
Clinical Findings ◽  
Loss Of Function ◽  
Cross Sectional ◽  
Uncommon Presentation ◽  
Sick Children

Background: Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder caused by loss-of-function mutation in the NF1 gene. Segmental or mosaic NF1 (MNF) is an uncommon presentation of the NF1 result of postzygotic mutations that present with subtle localised clinical findings. Objectives: Our study’s objectives were to describe the clinical characteristics of children with MNF. Methods: We conducted a cross-sectional study of children diagnosed with MNF at the Hospital for Sick Children in Toronto, Canada, from January 1992 to September 2012. Data were abstracted from health records and analysed using a standardised data collection form approved by our hospital Research Ethics Board. Results: We identified 60 patients with MNF; 32 of 60 (53.3%) were female. Mean ± SD age at first assessment was 10.6 ± 4.6 years. The most common initial physical manifestation in 39 of 60 (65.0%) patients was localised pigmentary changes only, followed by plexiform neurofibromas only in 10 of 60 (16.7%) and neurofibromas only in 9 of 60 (15.0%). Unilateral findings were seen in 46 of 60 (76.7%) patients. Most common associations identified included learning disabilities (7/60; 12%) and bony abnormalities (6/60; 10.0%). Conclusions: MNF is an underrecognised condition with potential implications for patients. Children mostly present with pigmentary anomalies only. Most patients do not develop associated findings or complications before adulthood, but long-term follow-up will help determine outcomes and possible associations. Recognition and confirmation of the diagnosis is important to provide follow-up and genetic counselling to patients.

scholarly journals A Cross-Sectional Study of Gender Differences in Quality of Life Domains in Patients With Neurofibromatosis Type 1

2021 ◽  
Author(s):  
Geohana Hamoy-Jimenez ◽  
Hadiya Elahmar ◽  
Meg Mendoza ◽  
Raymond Kim ◽  
Vera Bril ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Neurofibromatosis Type 1 ◽  
Physical Appearance ◽  
Neurofibromatosis Type ◽  
Cross Sectional Study ◽  
Cross Sectional ◽  
Appearance Anxiety ◽  
Sf 36

Abstract Background. There is limited data regarding gender differences in quality of life between women and men with Neurofibromatosis type 1. We aimed to study differences in quality of life domains between women and men with Neurofibromatosis type 1 living in Canada.Methods: This is a cross sectional study of adults with Neurofibromatosis type 1 attending a tertiary NF centre at Toronto General Hospital between January 2016 to December 2017. Demographic and clinical data were collected. We compared scores of generic measures (SF-36, EQ-5D-5L, pain interference) and a disease-specific measure (PedsQL-NF1 module) between women and men. We also assessed the relationship between disease visibility scored by an examiner (Ablon’s visibility index) and self-reported perceived physical appearance, stratified by gender.Results. One hundred and sixty-two participants were enrolled, 92 females and 70 males. Ablon’s index score 1 was in 43% and score 2 in 44%, while only 13% of patients had a score 3. Women had worse scores on the total PedsQL-NF1 scales, and also in the perceived physical appearance, anxiety and emotional health domains. In women, there was a significant association between Ablon’s index and perceived physical appearance, with lower scores with increments in Ablon’s class (ANOVA p<0.001). In men, there was no difference in self-reported physical appearance by Ablon’s index. There were no differences between men and women in the SF-36 or EQ-5D-5L scores.Conclusion. Women with NF1 reported worse NF1-related quality of life than men, with worse perceived physical appearance, anxiety, and mental health. Perceived physical appearance did not always correlate to disease visibility; therefore, healthcare providers should inquire about body image, physical appearance concerns, and mental health, especially among women with NF1.

scholarly journals Nutrient intake in neurofibromatosis type 1: A cross-sectional study

Nutrition ◽  
2015 ◽  
Vol 31 (6) ◽  
pp. 858-862 ◽  
Author(s):  
Marcio Leandro Ribeiro de Souza ◽  
Ann Kristine Jansen ◽  
Aline Stangherlin Martins ◽  
Luiz Oswaldo Carneiro Rodrigues ◽  
Nilton Alves de Rezende
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Nutrient Intake ◽  
Neurofibromatosis Type ◽  
Cross Sectional Study ◽  
Sectional Study ◽  
Cross Sectional

scholarly journals Non-invasive endothelial function assessment in patients with neurofibromatosis type 1: a cross-sectional study

2013 ◽  
Vol 13 (1) ◽  
Author(s):  
Luiza O Rodrigues ◽  
Luiz Oswaldo C Rodrigues ◽  
Luisa Lima Castro ◽  
Nilton A Rezende ◽  
Antonio Luiz P Ribeiro
Keyword(s):  
Endothelial Function ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Cross Sectional Study ◽  
Sectional Study ◽  
Cross Sectional ◽  
Non Invasive ◽  
Function Assessment

Evolving Pattern with Age of Cutaneous Signs in Neurofibromatosis Type 1: A Cross-Sectional Study of 728 Patients

Dermatology ◽  
2011 ◽  
Vol 222 (3) ◽  
pp. 269-273 ◽  
Author(s):  
T.A. Duong ◽  
S. Bastuji-Garin ◽  
L. Valeyrie-Allanore ◽  
E. Sbidian ◽  
S. Ferkal ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Cross Sectional Study ◽  
Sectional Study ◽  
Cross Sectional

scholarly journals Clinical features and disease severity in patients with mosaic neurofibromatosis type 1: a single-center study and literature review

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
C. Ejerskov ◽  
M. Raundahl ◽  
P. A. Gregersen ◽  
M. M. Handrup
Keyword(s):  
Cognitive Impairment ◽  
Learning Disability ◽  
Diagnostic Criteria ◽  
Clinical Features ◽  
Neurofibromatosis Type 1 ◽  
Plexiform Neurofibroma ◽  
Neurofibromatosis Type ◽  
Language Delay

Abstract Background The mosaic form of neurofibromatosis type 1 (NF1) is called mosaic NF1 (MNF1). No specific MNF1 follow-up guidelines exist. It is debatable if patients with MNF1 should be clinically examined and undergo follow-up in accordance with the standard NF1 guidelines, as MNF1 patients more often may develop more benign phenotypes and thereby less disease-associated complications including cognitive impairment. We discussed the need for a specific MNF1 follow-up guideline with focus on frequency of plexiform neurofibromas and NF1-associated complications. Method A systematic retrospective data collection in a MNF1 cohort from one of two Danish national centers of NF1 Expertise was completed. Data collected included demographics, clinical features including NF1 diagnostic criteria and NF1-associated complications. Recent literature in the field was reviewed. Results We identified 17 patients with MNF1 with a median age of 37 years [4; 66]. Eleven (65%) were females. Five patients (30%) had a plexiform neurofibroma. The median age at detection of plexiform neurofibroma was 30 years [14; 60]. Nine (53%) had at least one NF1-related complication; scoliosis, hypertension, ADHD, learning disability, language delay, autism and delay in gross and fine motor function development. We reviewed nine articles. In total, 126 cases were described within three case-series. Nineteen (15%) had a plexiform neurofibroma and in total, 23 NF1-associated complications were reported including language delay, learning disability and skeletal abnormalities. Furthermore, from the literature it was evident that the diagnosing of MNF1 varies among physicians and across countries. Conclusion Patients with MNF1 present with plexiform neurofibromas and other NF1-related complications with a frequency requiring that follow-up of MNF1 patients should be in accordance with the standard NF1 guideline in both childhood and adulthood. Physicians should be aware of cognitive impairment as a complication to MNF1. To develop a specific MNF1 follow-up guideline, there is a need for an international consensus on the diagnostic criteria for MNF1 and a follow-up study conducted in a larger MNF1 cohort.

Follow-Up of Optic Pathway Gliomas in Children with Neurofibromatosis Type 1

1994 ◽  
Vol 25 (06) ◽  
pp. 295-300 ◽  
Author(s):  
Ch. Kuenzle ◽  
M. Weissert ◽  
E. Roulet ◽  
H. Bode ◽  
S. Schefer ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Optic Pathway ◽  
Optic Pathway Gliomas

scholarly journals Characteristics, Treatment Patterns, Healthcare Resource Use, and Costs among Pediatric Patients Diagnosed with Neurofibromatosis Type 1 and Plexiform Neurofibromas: A Retrospective Database Analysis of a Medicaid Population

2020 ◽  
Author(s):  
Xiaoqin Yang ◽  
Kaushal Desai ◽  
Neha Agrawal ◽  
Kirti Mirchandani ◽  
Sagnik Chatterjee ◽  
...  
Keyword(s):  
Resource Use ◽  
Neurofibromatosis Type 1 ◽  
Pediatric Patients ◽  
Healthcare Resource ◽  
Neurofibromatosis Type ◽  
Treatment Patterns ◽  
Healthcare Resource Use ◽  
The Mean

Abstract Background: Neurofibromatosis type 1 (NF1)-related plexiform neurofibromas (PN) can cause substantial morbidity by disfigurement and compression of vital structures. Real-world data on the burden and cost of disease among pediatric patients with NF1 and PN is limited. The objectives of this study were to describe the characteristics, treatment patterns, healthcare resource use (HCRU), and costs of these patients.Results: A total of 383 patients were included in the retrospective analysis of patients aged ≤18 with at least 1 ICD-10-CM diagnosis code for both NF1 and PN enrolled in the MarketScan® Multistate Medicaid database from October 1, 2014 to December 31, 2017. The mean follow-up was 448 days. The mean age was 11.4 years and 52.0% of patients were male. Most patients were diagnosed by a specialist (63.5%). During the follow-up period, pain medications were used by 58.5% of patients, 25.1% were treated with chemotherapy, 7.1% received surgery for PN, 1.6% received MEK inhibitors, and 0.8% received radiation. Mean per patient per year inpatient, outpatient, emergency room, pharmacy, and other visits were 1.4, 17.3, 1.6, 13.6, and 25.8, respectively. Mean ±SD (median) total per patient per year healthcare costs (2018 USD) were $17,275 ±$61,903 ($2,889), with total medical costs of $14,628 ±$56,203 ($2,334) and pharmacy costs of $2,646 ±$13,303 ($26). Inpatient costs were the largest drivers of medical cost, with a mean per patient per year cost of $6,739.Conclusions: This study showed that many pediatric patients diagnosed with NF1 and PN were treated with supportive care only, highlighting a substantial unmet medical need. This study also highlights the considerable economic burden among patients with NF1 and PN.

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