Neurofibromatoses

A 4-month-old male presented for a large, hypertrichotic brown patch on the upper back with several scattered 0.5-1.5 cm, round to oval, brown macules and patches on the trunk and extremities. The lesion was initially diagnosed as a giant congenital melanocytic nevus based on clinical exam and histopathology with immunohistochemical stains. The patient was later diagnosed with neurofibromatosis type 1, and the lesion on the back developed a "bag of worms" texture consistent with a plexiform neurofibroma and found to harbor a pathogenic variant in the NF1 gene...

No abstract text is available yet for this article.

Meningiomas, originating from the meninges encasing the brain and spinal cord, are the most prevalent primary intracranial tumors, constituting around 40% of all such tumors. These tumors primarily manifest within the dura mater, the outermost meningeal layer, and occasionally in locations such as the ventricular system. However, the concurrent presence of dural and intraventricular meningiomas is exceedingly rare. It could be challenging to tell them apart from metastases. We present a case of a middle-aged female with chronic headaches, where magnetic resonance imaging (MRI) revealed two distinct supratentorial lesions, one dural and the other intraventricular...

PURPOSE: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder which commonly causes neoplasms leading to disfigurement or dysfunction. Mitogen-activated protein kinase inhibitors (MEKi) are generally well-tolerated treatments which target neural tumor progression in patients with NF1. However, cutaneous adverse events (CAEs) are common and may hinder patients' abilities to remain on treatment, particularly in children. We aim to characterize CAEs secondary to MEKi treatment in pediatric and young adult patients with NF1...

The neurofibromatoses (NFs) are a set of incurable genetic disorders that predispose individuals to nervous system tumors. Although many patients experience anxiety and depression, there is little research on psychosocial interventions in this population. The present study examined the effects of a mind-body intervention on depression and anxiety in adults with NF. This is a secondary analysis of the Relaxation Response Resiliency Program for NF (3RP-NF), an 8-week virtual group intervention that teaches mind-body skills (e...

Neurofibromatosis type 1 (NF1) is a hereditary, progressive and unpredictable disease, which can involve many organs. Benign and malignant tumors arise due to unrestrained cell division and cell growth. Recognizing the symptoms of these tumors and using the correct diagnostics is of great importance. In this clinical lesson we show the disease course of 3 patients with NF1. In all 3, the disease course was complicated by a symptomatic tumor. Characteristic in these patients is the relatively long interval between the onset of symptoms and the final tumor diagnosis...

No abstract text is available yet for this article.

Neurofibromatosis type I (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis represent a diverse group of genetic tumor predisposition syndromes with a shared feature of tumors affecting the peripheral nerve sheaths. PURPOSE OF REVIEW: Many advancements have been made in understanding the biologic underpinnings of these conditions, and in 2016 the first drug was approved by the FDA to treat pediatric symptomatic unresectable plexiform neurofibromas. RECENT FINDINGS: Mek inhibitors have provided a much-needed therapeutic avenue for NF1 patients with unresectable plexiform neurofibromas (PN), both for reduction of tumor bulk and for improvement in symptoms...

BACKGROUND: Neurofibromatosis type 1, also known as Recklinghausen's disease, is a neurocutaneous tumor syndrome that is genetically determined and is associated with infestation of the integument with neurofibromas (nerve sheath tumors). The occurrence of neurofibromas can be very stressful for patients and often contributes to a reduced quality of life for patients, especially if externally visible body parts are affected. The aim of this study is to show to what extent the resection of cutaneous neurofibromas can improve patients' quality of life...

PURPOSE: To test the effects of the Relaxation Response Resiliency Program - Neurofibromatosis (3RP-NF), a mind-body resilience program for people with NF, on resilience factors from baseline to post-treatment and 6- and 12-month follow-up. METHODS: This is a secondary analysis of a fully powered randomized clinical trial (RCT) of 3RP-NF and health education control (HEP-NF). We recruited adults with NF1, NF2, or schwannomatosis who reported stress or difficulty coping with NF symptoms...

IMPORTANCE: Neurofibromatoses (NF; NF1, NF2, and schwannomatosis) are hereditary tumor predisposition syndromes with a risk for poor quality of life (QOL) and no evidence-based treatments. OBJECTIVE: To compare a mind-body skills training program, the Relaxation Response Resiliency Program for NF (3RP-NF), with a health education program (Health Enhancement Program for NF; HEP-NF) for improvement of quality of life among adults with NF. DESIGN, SETTING, AND PARTICIPANTS: This single-blind, remote randomized clinical trial randomly assigned 228 English-speaking adults with NF from around the world on a 1:1 basis, stratified by NF type, between October 1, 2017, and January 31, 2021, with the last follow-up February 28, 2022...

BACKGROUND: The global COVID-19 pandemic has directly impacted individuals with rare diseases who are attempting to maintain or obtain employment. Individuals with Neurofibromatosis Type 1 are especially at risk due to their disease. OBJECTIVE: The current study compared the impact that generalized anxiety and quality of life had on work readiness and potential barriers that individuals with NF1 had in gaining and maintaining employment during the COVID-19 pandemic to that of a healthy individual's sample using a moderating mediation analysis...

INTRODUCTION: Neurocutaneous syndromes (NCS) are a heterogeneous group of conditions with multiorgan involvement and diverse manifestations, evolving throughout life with significant morbidity. A multidisciplinary approach to NCS patients has been advocated, although a specific model is not yet established. The aim of this study was 1) to describe the organization of the recently created Multidisciplinary Outpatient Clinic of Neurocutaneous Diseases (MOCND) at a Portuguese pediatric tertiary hospital; 2) to share our institutional experience focusing on the most common conditions, neurofibromatosis type 1 (NF1) and tuberous sclerosis complex (TSC); 3) to analyze the advantages of a multidisciplinary center and approach in NCS...

BACKGROUND & FOCUS: While the Neurofibromatoses have been observed and classified by their phenotypes for several centuries, their great variability constitutes a considerable challenge in diagnostics and therapy selection. This article focuses on highlighting the three most frequent sub-types NF1, NF2 and NF3. METHODS: All three NF types are outlined by the following measures: the history of their clinical detection, the typical appearance, the underlying genetic constitution and its consequences, the official diagnostic criteria, the mandatory diagnostic steps and finally the treatment opportunities and specific risks...

BACKGROUND: Neurofibromatoses (NFs) are a group of rare autosomal dominant genetic disorders characterized by tumors growing in the nervous system. Neurofibromas, which are soft noncancerous tumors, have been found on or under the skin in patients with NF1. Furthermore, patients with NF1 are susceptible to various cancers, including breast cancer. Neurofibromas under the skin of the breast can delay the diagnosis of breast cancer, which severely reduces life expectancy. Paget disease of the breast (PDB) is a rare type of breast cancer that causes eczema-like changes of the nipple...

BACKGROUND: Neurofibromatoses are a rare group of autosomal dominant tumor suppressor phacomatoses syndromes. Neurofibromatosis type 1 (NF1 or Von Recklinghausen's disease) is the most commonly found type of neurofibromatosis, and constitutes the most commonly found autosomal dominant disease of the nervous system. CASE PRESENTATION: We report a case of a 14-year-old boy who reported a 3-year-history of a slowly enlarging right lateral cervical mass. He has a medical history of a progressive limping gait disorder with scoliotic attitude...

Neurofibromatosis is an autosomal dominant disorder characterized by tumors of the nervous system and skin. Plexiform neurofibromas are common complications of neurofibromatosis type 1 and can cause large facial deformities. Vascular anomalies are in turn a rare manifestation of neurofibromatosis. We present the case of a 48-year-old female patient with right hemifacial neurofibromatosis associated with venous vascular malformation, previously treated surgically and then with sclerosing agents, determining severe residual facial deformity...

BACKGROUND: Neurofibromatosis type 1 (NF1) is a tumor predisposition syndrome and is one of the most common genetic diseases. It is therefore a condition encountered by radiologists in clinical routine. Since the variability of the clinical expression is very high and several organ systems are affected, we present a standardized diagnostic approach in this article. METHODS: Evaluation of the literature on neurofibromatosis type 1 in the context of radiological examination methods...

Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disorder that affects multiple organ systems and has a wide range of clinical manifestations. Pulmonary hypertension (PH) associated with NF1 (PH-NF1) is rarely seen, but confers a dismal prognosis. In the literature this association has been described in only 31 cases. The authors report the case of a 77-year-old female patient with NF1 complicated by severe precapillary PH despite triple disease-specific oral combination therapy. Because no data are available on the efficacy of specific PH therapy in PH-NF1, these patients should be assessed in expert PH centers and referred for lung transplantation at an early stage...

Von Recklinghausen disease or neurofibromatosis type I (NF1) is the most common phacomatosis. It is inherited in an autosomal dominant manner. Lisch nodules are the most common ophthalmic manifestation of NF1. They are reported in 73-95% of cases. We here report the case of a 49-year-old female patient referred for a consultation with an ophthalmologist for routine eye check-up after the onset of the following symptoms: coffee-with-milk colored spots and multiple neurofibromas (A). She reported similar family history...