scholarly journals Novel and Unusual Retinal Findings in Two Patients with Neurofibromatosis Type 1

2020 ◽  
Vol 11 (3) ◽  
pp. 588-594
Author(s):  
David A. Kilgore ◽  
Riley Sanders ◽  
Sami Uwaydat
Keyword(s):  
Retinal Detachment ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Multiple Organ ◽  
Developmental Abnormalities ◽  
Plexiform Neurofibromas ◽  
Ophthalmic Manifestations ◽  
Organ Systems ◽  
Lisch Nodules

Neurofibromatosis type 1 (NF1) is a phacomatosis known to be associated with several developmental abnormalities in multiple organ systems including the eyes. NF1 can present with varying ophthalmic manifestations, including Lisch nodules, retinal astrocytic hamartomas, capillary hemangiomas, plexiform neurofibromas, and choroidal nodules. We present 2 cases of NF1 with presentations that may represent underreported retinal abnormalities occurring in NF1. Case 1 presents a patient who developed spontaneous peripheral retinal dialysis with subsequent retinal detachment; case 2 discusses a patient with multiple pigmented choroidal lesions bilaterally.

Oral Manifestations of Neurofibromatosis Type 1 in Children with Facial Plexiform Neurofibroma: Report of Three Cases

2015 ◽  
Vol 39 (2) ◽  
pp. 168-171 ◽  
Author(s):  
KS Cunha ◽  
RE Rozza-de-Menezes ◽  
RM Andrade ◽  
LMS Almeida ◽  
MER Janini ◽  
...  
Keyword(s):  
Trigeminal Nerve ◽  
Neurofibromatosis Type 1 ◽  
Soft Tissues ◽  
Genetic Disorder ◽  
Plexiform Neurofibroma ◽  
Neurofibromatosis Type ◽  
Oral Manifestations ◽  
Plexiform Neurofibromas ◽  
Organ Systems

Neurofibromatosis type 1 (NF1) is a common autosomal genetic disorder with a prevalence of 1 in 3,000 births. NF1 is a complex syndrome characterized by many abnormalities and may affect all organ systems. Oral manifestations of NF1 occur frequently, but reports including NF1 children with facial plexiform neurofibromas and oral alterations are scant. Facial plexiform neurofibroma may cause asymmetry, disfigurement and usually arises from the trigeminal nerve. The aim of this paper is to to report three pediatric NF1 cases with facial plexiform neurofibroma presenting with oral manifestations, which were evaluated clinically and radiographically, and also to briefly review the literature. Patients presented with changes in the oral soft tissues, jaws, and teeth ipsilateral to the tumor.

scholarly journals Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study

Cancers ◽  
2021 ◽  
Vol 13 (8) ◽  
pp. 1879
Author(s):  
Marcello Scala ◽  
Irene Schiavetti ◽  
Francesca Madia ◽  
Cristina Chelleri ◽  
Gianluca Piccolo ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Copy Number Variations ◽  
Single Nucleotide Variants ◽  
Multivariate Statistical ◽  
Gene Deletions ◽  
Pathogenic Variants ◽  
Lisch Nodules ◽  
Next Generation Sequencing Ngs

Neurofibromatosis type 1 (NF1) is a proteiform genetic condition caused by pathogenic variants in NF1 and characterized by a heterogeneous phenotypic presentation. Relevant genotype–phenotype correlations have recently emerged, but only few pertinent studies are available. We retrospectively reviewed clinical, instrumental, and genetic data from a cohort of 583 individuals meeting at least 1 diagnostic National Institutes of Health (NIH) criterion for NF1. Of these, 365 subjects fulfilled ≥2 NIH criteria, including 235 pediatric patients. Genetic testing was performed through cDNA-based sequencing, Next Generation Sequencing (NGS), and Multiplex Ligation-dependent Probe Amplification (MLPA). Uni- and multivariate statistical analysis was used to investigate genotype–phenotype correlations. Among patients fulfilling ≥ 2 NIH criteria, causative single nucleotide variants (SNVs) and copy number variations (CNVs) were detected in 267/365 (73.2%) and 20/365 (5.5%) cases. Missense variants negatively correlated with neurofibromas (p = 0.005). Skeletal abnormalities were associated with whole gene deletions (p = 0.05) and frameshift variants (p = 0.006). The c.3721C>T; p.(R1241*) variant positively correlated with structural brain alterations (p = 0.031), whereas Lisch nodules (p = 0.05) and endocrinological disorders (p = 0.043) were associated with the c.6855C>A; p.(Y2285*) variant. We identified novel NF1 genotype–phenotype correlations and provided an overview of known associations, supporting their potential relevance in the implementation of patient management.

scholarly journals Activity of Selumetinib in Neurofibromatosis Type 1–Related Plexiform Neurofibromas

2016 ◽  
Vol 375 (26) ◽  
pp. 2550-2560 ◽  
Author(s):  
Eva Dombi ◽  
Andrea Baldwin ◽  
Leigh J. Marcus ◽  
Michael J. Fisher ◽  
Brian Weiss ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Plexiform Neurofibromas

Analysis of intratumor heterogeneity in Neurofibromatosis type 1 plexiform neurofibromas and neurofibromas with atypical features: Correlating histological and genomic findings

2018 ◽  
Vol 39 (8) ◽  
pp. 1112-1125 ◽  
Author(s):  
Meritxell Carrió ◽  
Bernat Gel ◽  
Ernest Terribas ◽  
Adriana Carolina Zucchiatti ◽  
Teresa Moliné ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Intratumor Heterogeneity ◽  
Plexiform Neurofibromas ◽  
Atypical Features

scholarly journals Treatment, Resource Use and Costs Among Pediatric Patients with Neurofibromatosis Type 1 and Plexiform Neurofibromas

2020 ◽  
Vol Volume 11 ◽  
pp. 421-428
Author(s):  
Xiaoqin Yang ◽  
Kaushal Desai ◽  
Neha Agrawal ◽  
Kirti Mirchandani ◽  
Sagnik Chatterjee ◽  
...  
Keyword(s):  
Resource Use ◽  
Neurofibromatosis Type 1 ◽  
Pediatric Patients ◽  
Neurofibromatosis Type ◽  
Plexiform Neurofibromas
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