Neurofibromatosis type 1, fibromuscular dysplasia, and ischemic stroke: an association lost in time? A case report / Neurofibromatose tipo 1, displasia fibromuscular e acidente vascular cerebral isquêmico: uma associação perdida no tempo? Um relato de caso

Abstract Neurofibromatosis Type 1 (NF1) is a rare cause of ischemic stroke (IS) in the general population. We report a case of a young patient with NF1 in whom IS was caused by fibromuscular dysplasia. An angiographic study demonstrated occlusion in the right internal carotid artery (ICA), just after its origin, and the left ICA, just before the intracranial portion, and brain magnetic resonance imaging showed the limits of an area of brain infarction in the right frontoparietal region. Despite these concomitant neuroimaging findings, this association is rare, and it is difficult to establish the contribution to the outcome made by each of these diseases, which treatment is the best to implement, or what prognosis is.

Resumo A neurofibromatose tipo 1 (NF1) é uma causa rara de acidente vascular cerebral isquêmico (AVCi) na população geral. Neste estudo, relatamos o caso de um paciente jovem com AVCi, com diagnóstico de NF1 associada a displasia fibromuscular. O estudo angiográfico demonstrou oclusão da carótida interna direita, logo após sua origem, e esquerda, antes da porção intracraniana. A ressonância magnética do encéfalo mostrou delimitação de um infarto na região frontoparietal direita. Apesar desses achados concomitantes na neuroimagem, essa associação é rara, sendo difícil de estabelecer a contribuição de cada uma dessas doenças no desfecho, tampouco qual o melhor tratamento a ser implementado e qual o prognóstico.

Case reports of two children with neurofibromatosis type 1 / 中国热带医学

@#Abstract: Objective　To report the clinical characteristics and genetic test results of two children with neurofibromatosis type 1 (NF1), and to provide reference for the comprehensive diagnosis-treatment and follow-up plans of NF1 patients based on the existing diagnosis and treatment progress of NF1. Methods　Two children with NF1 admitted to the Department of Children's Medicine, Haikou people's Hospital in May and June 2022 were selected to analyze the clinical data of their clinical manifestations, laboratory examination, genetic test results, diagnosis and treatment and follow-up retrospectively. Results　Two children had typical clinical manifestations, such as café-au-lait spots, axillary freckles, intraocular iris hamartoma. Venous blood was collected from case 1 and his parents for NF gene test, and a new mutation of c.4084C>T in the NF1 gene was found, and their parents did not have the pathogenic gene; the venous blood of the children in case 2 was tested for whole-exome gene analysis, and a heterozygous nonsense variant c.910C>T:p.R304 on the NF1 gene was found, , which was verified by Sanger sequencing to be inherited from his mother, his mother has café-au-lait spots and brain glioma, and has undergone surgery to remove the brain glioma, but has not undergone chemoradiotherapy or targeted therapy. No neurological malignancies were detected in either of the two children at follow-up until July 2022. Conclusions　The clinical manifestations of NF1 are relatively typical, genetic testing is conducive to determine its classification, and regular follow-up review can help to detect and treat malignant tumors early, thus improving the patient's quality of life.

Guidelines for the Multidisciplinary Diagnosis and Treatment of Neurofibromatosis Type 1(2023 Version) / 罕见病研究

@#Neurofibromatosis type 1(NF1) is an autosomal dominant hereditary neoplastic disease caused by mutations in the <i>NF1</i> gene. Features of disorder typically appear in early childhood. The clinical phenotypes of the patients are diverse but neurofibromas is the main feature. Patients with NF1 also suffer from multi-system involvement and have high risk of malignant tumor. NF1 poses significant challenges for diagnosis, treatment, follow-up and patients management. Therefore, it is imperative to develop a multidisciplinary collaborative diagnosis and treatment protocol. Under the leadership of China Alliance for Rare Diseases, a multidisciplinary diagnosis and treatment collaborative team for NF1 has been formed and worked out the guideline. This guideline intends to lift the diagnosis and treatment level for NF1 and to provide the guideline for standardized treatment for NF1 patients in China.

Neurofibromatosis Type 1 in a Child with Plexiform Neurofibroma Pressing the Urinary System / 罕见病研究

A 3-year-old male patient was diagnosed with neurofibromatosis type 1(NF1) for two years. The patient has multiple neurofibromas in retroperitoneum, lumbococcygeal paravertebral, lumbosacral spinal canal, and foramina. Due to retroperitoneal mass compression, the child suffered from urological complications such as hydronephrosis, ureterdilation, neurogenic bladder, etc., which seriously affected the urination function and resulted in multiple surgical treatments. Currently, the patient has been treated with mitogen activates extracelluar signal-regulated kinases(MEK) inhibitor selumetinib targeted therapy, and has voluntarily urinated, and his general state is better than before medication. The diagnosis and treatment of this case reflects the importance of multidisciplinary collaboration in the diagnosis and treatment of rare diseases.

The Clinical Outcomes and Perioperative Care of Neurofibromatosis Type 1 Thoracolumbar Kyphoscoliosis / 罕见病研究

  Objective  To evaluate the clinical outcomes and complications of posterior spinal fusion surgery in the treatment of neurofibromatosis type 1(NF1)thoracolumbar kyphoscoliosis, and to explore the mode of perioperative care for nurses provided to the patients.  Methods  We used the retrospective analysis on the 134 patients with NF1 thoracolumbar kyphoscoliosis admitted to our department from March 2012 to April 2022 and analyzed the clinical outcomes and perioperative complications by using the related statistics. We evaluated the Perioperative care by the nurses in the treatment of NF1 to explore the mode of nursing to the patients with the NF1, by using specific observation points and evaluation indicators.  Results  NF1 kyphoscoliosis patients had poor preoperative nutritional status and lung function. NF1 kyphoscoliosis underwent longer operation time, lost more blood in operation, had higher osteotomy grade and more postoperative complications. All the patients successfully completed the operation in our group. The correction rate of scoliosis was (52.8±22.7)%, and the correction rate of kyphosis was (57.3±34.6)%. 25 patients had complications but no such serious complications as nerve damage.  Conclusions  The practice of the perioperative nursing to NF1 type scoliosis patients facilitates the shortening of the recovery period, the prevention or timely detection of complications, and improvement of the therapeutic effect.

Neurofibromatosis tipo 1 y manifestación en el Territorio Maxilofacial: Reporte de un caso y Revisión de la Literatura

Introducción: El neurofibroma corresponde a un tumor benigno que compromete la vaina neural del tejido nervioso, asociándose íntimamente a la neurofibromatosis. Debido al compromiso de nervios periféricos y/o centrales, su expresión clínica es muy variada producto de la compresión y/o desplazamiento de estructuras vecinas dificultando así su diagnóstico. Objetivo: El objetivo de este artículo, es el de realizar una revisión de la literatura en relación con la neurofibromatosis y sus manifestaciones en el territorio máxilofacial en conjunto con la presentación de un caso de hipercondilismo mandibular asociado a un neurofibroma en la región de la articulación temporomandibular en un paciente con antecedentes de neurofibromatosis. Métodos: Se presenta el caso de un paciente con laterognasia y antecedentes de Neurofibromatosis tipo I (NF1). Por medio de estudio imagenológico, se confirma Hipercondilismo derecho y presencia de una zona radiolúcida relacionada con el cuello del cóndilo comprometido, cuyo resultado histopatológico confirmo el diagnóstico de neurofibroma. Conclusiones: Existe una muy variada clínica en pacientes con NF1, presentando una predisposición a la formación de neurofibromas y alteraciones oseas que pudiesen comprometer el territorio máxilofacial y causar asimetrías faciales. Debido a esto, resulta imprescindible tener conocimiento y consideración de ambas patologías para una correcta planificación del tratamiento de los pacientes.

Introduction: Neurofibroma is a benign tumor that compromises the neural sheath of nerve tissue, intimately associated with Neurofibromatosis. Due to the involvement of peripheral and/or central nerves, its clinical expression is wide as a result of compression and/or displacement of neighboring structures, making its diagnosis difficult. Objective: The aim of this article is to review the literature on Neurofibromatosis and its manifestations in the maxillofacial territory, along with the presentation of a case of mandibular Hyperchondylism associated with a neurofibroma in the temporomandibular joint region in a patient with a history of Neurofibromatosis. Methods: We present the case of a patient with laterogenesis and a history of Neurofibromatosis type I (NF1). By imaging study, a right Hyperchondylism is detected along with the presence of a radiolucent area related to the neck of the compromised condyle, whose histopathological result confirmed the diagnosis of neurofibroma. Conclusions: There is a diverse clinical picture in patients with NF1, presenting a pre-disposition to neurofibromas development and bone abnormalities, leading to the compromise of the maxillofacial territory and causing facial asymmetries. Because of this, it is essential to have knowledge and consideration of both pathologies for the right planning of patient treatment.

An Unusual Presentation of Neurotized Congenital Giant Melanocytic Nevus and Type 1 Neurofibromatosis: A Diagnostic Challenge

@#Among the three subtypes of neurofibromatosis are type 1 and 2 neurofibromatosis and schwannomatosis, von Recklinghausen disease also known as type 1 neurofibromatosis has an autosomal dominant inheritance. It is the commonest form as and presents with numerous café-au-lait macules and neurofibromas. Giant congenital melanocytic nevus (CGMN) on the other hand is characterized by a melanocytic proliferation that present at birth. CGMN develops due to a defective embryonic pigment cell (melanocyte) precursors development and are often present at birth. Giant congenital melanocytic nevus (CGMN) and type 1 neurofibromatosis may occur together rarely. Clinicians should be aware of the rare presentation of both CGMN and type 1 neurofibromatosis in a patient.

Multiple strategies to avoid life-threatening blood loss during intralesional resection of a giant Plexiform Neurofibroma: A case report

@#Giant plexiform neurofibroma (PNs) are benign peripheral nerve sheath tumors known to contain multiple fascicles of nerve and numerous friable vascular components. Most consult due to significant disfigurement and functional deficit. Though surgery is the current standard of therapy, there is high reservation in pushing through with resection in most cases. The reservation stems from the recognized difficulty in controlling intraoperative life-threatening hemorrhage. A 25-year-old female came in our institution due to multiple debilitating giant PNs on her scalp, back, neck, shoulder, and chest. She opted for debulking surgery despite possible complications and recurrence. Multiple modalities used to prevent massive bleeding in this case included preoperative arterial embolization, energy sealing device, cutting linear stapler, and interlocking retention sutures. The aim of this case report was to discuss the utility of each of these techniques, the advantages and disadvantages of each approach based on our experience.

Tumor maligno de la vaina nerviosa periférica del nervio vago: Reporte de un caso

Resumen Los tumores malignos de la vaina nerviosa forman parte del 5% de los sarcomas de partes blandas. Si bien son infrecuentes, su incidencia aumenta en caso de neurofibromatosis tipo 1. Cuando estos tumores están ubicados en cabeza y cuello, suelen ser asintomáticos, por lo que su diagnóstico es tardío. El tratamiento es principalmente quirúrgico, con una tasa de recidiva importante y pobre sobrevida a los 5 años. Se presenta el reporte de un caso de una paciente de 52 años con antecedentes de neurofibromatosis tipo 1 y un tumor maligno de vaina nerviosa periférica del nervio vago, localizado en el espacio parafaríngeo.

Abstract Malignant peripheral nerve sheath tumors are part of 5% of soft tissue sarcomas. Although they are infrequent, their incidence increases in case of neurofibromatosis type 1. When these tumors are located in the head and neck, they are usually asymptomatic, so their diagnosis is delayed. Treatment is primarily surgical, with a significant recurrence rate and poor 5-year survival. We present a case report of a 52-year-old patient with a history of type 1 neurofibromatosis and a malignant peripheral nerve sheath tumor of the vagus, located in the parapharyngeal space.

Hemorragia digestiva como manifestación de neurofibromatosis tipo I: reporte de un caso / Gastrointestinal hemorrhage due to neurofibromatosis type 1: a case report

RESUMEN Presentamos el caso de un paciente de 40 años con diagnóstico previo de neurofibromatosis y un antecedente crónico de episodios de rectorragias intermitentes que acude al servicio de emergencia por una rectorragia asociada a hipotensión y taquicardia, y es hospitalizado. En los exámenes complementarios se evidencian hemorroides internas de grado 1 que no se correlacionaban con las características clínicas del paciente. Debido a la naturaleza intermitente del cuadro hemorrágico se sospechó de alguna malformación vascular, la cual se confirmó posteriormente mediante una angiografía abdomino-pélvica.

ABSTRACT We present the case of a 40-year-old male with a previous diagnosis of neurofibromatosis and a chronic history of intermittent rectal bleeding episodes. He visited the emergency service for frequent rectal bleeding associated with hypotension and tachycardia, and was hospitalized. Complementary tests evidenced grade 1 internal hemorrhoids not associated with the clinical features of the patient. Due to the intermittent nature of the bleeding, a vascular malformation was suspected, which was subsequently confirmed by a pelvic and abdominal angiography.

Neurofibromatosis type-1 with seizures and cerebrovascular malformation: a case study

Neurofibromatosis type 1 (NF1) is the most common autosomal dominant neurocutaneous among humans. Epilepsy is more prevalent in NF1 patients than in the general population. NF1 vasculopathy is also a significant but underrecognized complication of the disease, affecting both arterial and venous blood vessels. Herein, we report a 2 year old female child with seizures and multiple cafe-au-lait spots on the body. The patient was diagnosed with NF1 based on clinical findings and family history. MRI Brain revealed middle cerebral artery dysplasia. Here we discuss diagnostic and treatment challenges and briefly reviews the existing literature.

Dietary patterns of Brazilian adults with neurofibromatosis type 1 / Patrones dietéticos de adultos brasileños con neurofibromatosis tipo 1

ABSTRACT Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disease characterized by multisystem involvement such as bone, muscle, endocrine, ophthalmologic, cardiovascular, central and peripheral nervous system, cognitive capacity, voice, and oral motor disorders. Nutritional studies in individuals with NF1 have been performed recently. While a previous study showed an inadequate nutrient intake in patients with NF1, the dietary patterns of this population have not yet been widely studied. This study aimed to characterize dietary patterns in Brazilian adults with NF1. Sixty NF1 individuals (51.7% women), ≥18 years of age underwent nutritional assessment including laboratory analysis, anthropometrics, and eating habits recorded on a food frequency questionnaire. Cluster analysis was used to distinguish between dietary patterns. Hypothesis tests were used to compare data. Two groups with distinct patterns were identified, "Healthy" (46.7%) and "Western" (53.3%). These groups were similar in most of the socioeconomic, anthropometric, demographic and laboratory parameters evaluated. However, the upper-arm total area and upper-arm muscle area (UAMA) were lower in the Western group than those in the Healthy group [59.8 (25.7) cm2 versus 65.6 (28.3) cm2, P=0.049; 35.6±12.4 cm2 versus 43.8±15.0 cm2, P=0.024, respectively]. In this study, most individuals with NF1 had a Western dietary pattern and this group showed a lower UAMA, which may indicate a potential contribution, even in part, of diet in the muscle phenotype in this population. This association between diet and muscle in NF1 individuals requires investigation in further studies.

RESUMEN La neurofibromatosis tipo 1 (NF1) es una enfermedad genética autosómica dominante caracterizada por la afectación multisistémica, alterando los sistemas óseo, muscular, endocrino, oftálmico, cardiovascular, nervioso central y periférico así como las capacidades cognitivas. Un estudio previo señaló una ingesta inadecuada de nutrientes en pacientes con NF1, pero los patrones dietéticos de esta población aún no han sido estudiados ampliamente. El objetivo de este est udio es caracterizar los patrones dietéticos en brasileños con NF1. Sesenta individuos con NF1 (51,7% mujeres) ≥18 años se sometieron a una evaluación nutricional que incluyeron análisis de laboratorio, antropometría y hábitos alimentarios registrados en un cuestionario de frecuencia alimentaria. El análisis de conglomerados se utilizó para distinguir los patrones dietéticos; las pruebas de hipótesis para comparar datos. Se identificaron dos grupos con patrones distintos, denominados Saludables (46,7%) y Occidentales (53,3%). Estos grupos fueron similares en la mayoría de los parámetros socioeconómicos, antropométricos, demográficos y de laboratorio evaluados. Sin embargo, las áreas total braquial (ATB) y muscular braquial (AMB) fueron menores en el grupo occidental que en el grupo sano [59,8 (25,7) cm2 y 65,6 (28,3) cm2, P= 0,049; 35,6 ± 12,4 cm2 y 43,8 ± 15,0 cm2, P= 0,024, respectivamente]. En este estudio, la mayoría de las personas con NF1 habían consumido un patrón dietético occidental y este grupo presentó un AMB menor, lo que puede indicar una contribución potencial, incluso en parte, de la dieta en el fenotipo muscular en esta población. Esta asociación entre dieta y músculo en personas con NF1 requiere investigaciones en estudios adicionales.

Neurofibromatosis segmentaria: Comunicación de dos casos / Segmental Neurofibromatosis: A report of two cases

Resumen La neurofibromatosis (NF) segmentaria, actualmente llamada NF mosaico, es una variante rara de neurofibromatosis, sin afectación sistémica y limitada a un segmento corporal. Los pacientes no presentan historia familiar de enfermedad. El cuadro clínico se caracteriza por manchas café con leche, neurofibromas o ambos. Se comunican dos casos de niñas con NF segmentaria solo con cambios pigmentarios,sin alteraciones sistémicas.

Abstract True segmental neurofibromatosis is an uncommon variant of neurofibromatosis, without systemic involvementand limited to a body segment. Patients don´t have family history of disease. The manifestations arecharacterized by café au lait spots, neurofibromas or both. We report two cases of girls with segmental NF with pigmentary changesonly, without systemic alterations.

Neuroibromatosis tipo l: relación genotipo-fenotipo / Type 1 neurofibromatosis: genotype-phenotype relationship

RESUMEN INTRODUCCIÓN: La neurofibromatosis (enfermedad de von Recklinghausen) es una enfermedad autosómica dominante que presenta principalmente manifestaciones cutáneas y neurológicas. El objetivo es describir actualmente si existe o no relación entre las mutaciones encontradas en los pacientes con neurofibromatosis tipo 1 y las características clínicas que presentan. MÉTODOS: Se realizó un artículo de revisión narrativa para evaluar la relación con el genotipo y fenotipo de los pacientes con neurofibromatosis tipo 1. Se revisaron las bases de datos PubMed, Embase y Lilacs. Se utilizaron los siguientes términos Mesh: Neurofibromatosis, neurofibromatosis tipo 1, genes, genotipo, fenotipo, mutaciones, secuenciación de exoma. Los estudios identificados fueron revisados y analizados. Se presentan los datos de manera cualitativa. RESULTADOS: De 425 artículos, 62 contenían la información necesaria para hacer el análisis. A pesar de que algunos estudios han presentado evidencia de asociación en relación a las mutaciones encontradas y la clínica, realmente no existe una correlación genotipo-fenotipo comprobada en neurofibromatosis tipo 1. Esto sugiere que para los fenotipos discordantes con genotipo similar existen otros factores que deben considerarse tales como la epigenética, alteraciones genéticas o incluso factores ambientales. CONCLUSIONES: Es necesario realizar estudios con cohortes más grande de pacientes para seguir estudiando si existe una relación directa o no.

SUMMARY INTRODUCTION: Neurofibromatosis (von Recklinghausen disease) is an autosomal dominant disease that mainly presents cutaneous and neurological manifestations. The objective is to describe if there is a relationship between the mutations found in patients with neurofibromatosis type 1 and the clinical characteristics they present. METHODS: A narrative review of the literature was carried out in relation to the genotype and phenotype of patients with Neurofibromatosis type 1 using PubMed, Embase, and Lilacs. The following Mesh terms were used: Neurofibromatosis, neurofibromatosis type 1, genes, genotype, phenotype, mutations, exome sequencing. The identified studies were reviewed and analyzed. Data are presented qualitatively RESULTS: Of 425 articles, 62 contained the information necessary to make the analysis. Although some studies have presented evidence of association in relation to the mutations found and the clinical one, there is still no proven genotype-phenotype correlation in neurofibromatosis type 1. This suggests that, for discordant phenotypes with a similar genotype, there are other factors that must be considered such as epigenetics, genetic alterations or even environmental factors. CONCLUSIONS: It is necessary to perform studies with larger cohort of patients to continue studying whether there is a direct relationship or not.

First case report of tongue squamous cell carcinoma in a neurofibromatosis type 1 patient and review of pathogenesis of carcinoma in neurofibromatosis type 1

Neurofibromatosis type 1 (NF1), also known as von Recklinghausen's disease, is a type of genodermatoses having an autosomal dominant inheritance pattern and is recently considered as a RASopathy. Such patients are very much prone to develop mesenchymal tumors. However, carcinomas are quite rare in NF1 patients. This case study is the first case of oral squamous cell carcinoma (SCC) in tongue of an NF1 patient. A 35-year-old male reported to the Department of Oral Pathology in a tertiary care center with a chief complain of a painful ulcer on tongue for last 1 month. For confirmation of diagnosis of NF1, the “Diagnostic Criteria for Neurofibromatosis Type 1” was followed. Biopsied specimen of the tongue lesion was examined under microscope and histopathological features were suggestive of infiltrating SCC. Immunohistochemistry with Pan CK and beta-catenin was positive. RASopathy, WNT–beta-catenin pathway alteration, heat shock factor 1 production, and miRNA activity are investigated to explain the pathogenesis of malignancies in NF1 patients. In this first case of tongue SCC, we have found out the altered WNT–beta-catenin pathway.

Isolated giant plexiform neurofibroma of lower back: a rare case presentation

Plexiform neurofibroma is a rare benign tumor of the peripheral tissue cells that develops in the perineurium that is often considered pathognomonic of neurofibromatosis type 1 (NF1 or von Recklinghausen disease). They occur most frequently in the craniomaxillofacial region, rarely on back and extremities. They are extremely vascular and there is 15-20% potential for malignant transformation. A 35-year-old married female presented with painless swelling in left lower back that began at around 8 years of age. The swelling gradually increased in size. The patient reported embarrassment over the disfigurement caused by the mass. Her medical history was unremarkable and none of the relatives was known to be affected. Surgical resection of the swelling with primary closure was done. Histopathology findings were consistent with neurofibromatosis. Hereby reporting a rare case of isolated plexiform neurofibroma of lower back which was surgically cured as a perusal of rare entity. We also try to emphasize on the need of sprightful clinical diagnosis with multidisciplinary approach in the management of these type of tumors. Finally, we insist on the need of a long term clinical and radiological follow-up of these patients to assess  post resection recurrence or malignant transformation.

Type 1 neurofibromatosis in a three-year-old girl with B-lineage acute lymphocytic leukemia:A case report / 中南大学学报(医学版)

Neurofibromatosis 1 (NF1) is an autosomal dominant genetic disease first manifesting in childhood, which affects multiple organs, childhood development and neurocognitive status. These patients have a high predisposition to develop both benign and malignant tumors. On September 30, 2018, a rare case of NF1 with B-lineage acute lymphocytic leukemia (ALL) was treated in the Department of Pediatrics, Third Xiangya Hospital, Central South University. The child presented with café au lait macules (CALM) since the date of birth. And the diagnosis of B-lineage ALL was made by bone marrow cytomorphologic examination and immunological phenotype detection. ETV6/RUNX1 fusion gene was positive. Also, a de novo mutation of c. 2773delT (p. Leu925Ter) was found in the exon of NF1 gene by gene sequencing, which was a nonsense mutation and led to the premature termination of peptide synthesis. Molecular genetic testing is recommended to confirm NF1, particularly in children with only pigmentary features of the diagnostic criteria. NF1-affected individuals should be referred to a specialist of NF1 clinical network for long-term follow-up and surveillance.

Bullous pemphigoid with neurofibroma-like histopathological change in two patients without neurofibromatosis type 1: Coincidence or association?

@#The author reports two cases of Bullous pemphigoid (BP) with neurofibroma (NF)-like histopathological change. The two patients without neurofibromatosis type 1 (NF1) presented with several bullae on their trunk. Based on the results of positivity for anti-BP180 antibody, direct immunofluorescence, and histopathological findings, they were diagnosed with BP. Histologically, another lesion in the dermis, which was composed of spindle cells with wavy nuclei, collagen fibers, and mast cells, was located close to the bulla. Immunohistochemically, the spindle cells were diffusely positive for S-100 protein and CD34, and weakly positive for epithelial membrane antigen in certain foci. These findings were considered to be “NF-like” histopathological change. This is the first two cases of BP with NF-like histopathological change in patients without NF1.

Neurofibromatose tipo 1 com acometimento do nervo infraorbital: relato de caso / Neurofibromatosis type 1 with infraorbital nerve involvement: a case report

A neurofibromatose tipo 1 é uma doença autossômica dominante rara, com manifestações clínicas diversas. Sua apresentação mais marcante é a presença de neurofibromas (tumores da bainha neural) cutâneos ou internos, que também podem ocorrer de forma esporádica, associados a outras manifestações sistêmicas, como manchas café com leite e lesões oculares. Por serem tumores da bainha de mielina, os neurofibromas podem acometer diversos nervos periféricos, incluindo nervos da face. Apresentamos o caso de um paciente de 1 ano, portador de neurofibromatose tipo 1, com neurofibroma em nervo infraorbital direito, com o acesso proposto para tratamento cirúrgico que fornecesse ampla visualização e acesso a lesão, sem comprometimento estético importante, permitindo preservação de partes moles e adequado crescimento facial.

Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disease with multiple clinical manifestations. Its most significant presentation is cutaneous or subcutaneous neurofibromas (myelin sheath tumors), which may be associated with other systemic manifestations such as caféau- lait spots and eye involvement. Neurofibromas can affect several peripheral nerves, including the facial nerves. This report presents a case of a 1-year-old patient with NF1 with right infraorbital nerve neurofibroma in which the proposed access for surgical treatment allowed adequate visualization of the tumor with good aesthetic results, preservation of the soft tissues, and normal facial growth.