Ressecção do tumor e colocação de enxerto de pele parcial no couro cabeludo em um paciente com neurofibromatose tipo 1 / Tumor resection and partial skin graft placement on the scalp in a patient with Neurofibromatosis type 1

A neurofibromatose tipo 1 (NF1) é um distúrbio neurocutâneo hereditário no qual se formam tumores no sistema nervoso (neurofibromas). Os neurofibromas são os tumores benignos mais comuns na NF1. O tipo, o tamanho, o número e a localização dos neurofibromas devem ser considerados para a escolha do tratamento. Apresentamos um caso de NF1, no qual foi realizada uma ampla ressecção do couro cabeludo devido à presença de múltiplos neurofibromas. Associado a isso, a reconstrução foi realizada com retalhos de avanço mais autoenxerto de pele parcial, com resultados favoráveis e boa cobertura das áreas onde os tumores foram removidos.

Neurofibromatosis type 1 (NF1) is an inherited neurocutaneous disorder in which tumors form in the nervous system (neurofibromas). Neurofibromas are the most common benign tumors in NF1. The type, size, number, and location of the neurofibromas should be considered for the choice of treatment. We present a case of NF1, in which a wide scalp resection was performed due to the presence of multiple neurofibromas. Associated with this, reconstruction was performed with advancement flaps plus partial skin autograft with favorable results and good coverage of the areas where the tumors were removed.

Qualidade de vida de portadores de neurofibromatose tipo 1: um protocolo de revisão de escopo / Quality of life of type 1 neurofibromatosis patients: a scoping review protocol

OBJETIVO: Mapear conceitos, achados e limitações acerca da qualidade de vida de crianças, adolescentes e adultos jovens portadores de neurofibromatose tipo 1. MÉTODO: Trata-se de um protocolo de revisão de escopo baseado nas diretrizes do Joanna Briggs Institute (JBI). A busca de dados será realizada nas plataformas PubMed/MEDLINE, EMBASE, Web of Science, Lilacs, CINAHL, Open Grey e Google Scholar. Os manuscritos encontrados serão organizados através da ferramenta Rayyan para identificação e exclusão de duplicatas. Na sequência, os artigos e demais materiais seguirão na mesma ferramenta para triagem e seleção de estudos elegíveis por dois pesquisadores independentes, sendo esse processo todo descrito em um fluxograma adaptado do Checklist PRISMA-ScR. Os dados extraídos dos manuscritos elegíveis serão apresentados em tabelas, quadros e fluxogramas, conforme pertinente. Os dados serão discutidos e inter-relacionados, com a finalidade de identificar potencialidades e limitações acerca do tema de pesquisa.

OBJECTIVE: To map concepts, findings, and limitations related to quality of life in children, adolescents, and young adults with neurofibromatosis type 1. METHOD: This is a scoping review protocol based on Joanna Briggs Institute (JBI) guidelines. Data searches will be conducted on PubMed/MEDLINE, EMBASE, Web of Science, Lilacs, CINAHL, Open Grey, and Google Scholar. The retrieved manuscripts will be organized using the Rayyan tool for duplicate identification and removal. Subsequently, the articles and other materials will be processed in the same tool for screening and selecting eligible studies by two independent researchers, and this entire process will be described in a flowchart adapted from the PRISMA-ScR checklist. As appropriate, data extracted from eligible manuscripts will be presented in tables, figures, and flowcharts. The data will be discussed and correlated to identify potential strengths and limitations related to the research topic.

Neurofibromatosis in the gluteus and posterior region of the thigh: case report / Neurofibromatose em glúteo e região posterior da coxa: relato de caso

Introduction: Neurofibromatosis is an autosomal dominant disorder, and type 1 is associated with an increased risk of tumor formation with neurocutaneous involvement. The variable evolution, often with limiting tumors, in addition to the significant incidence of cases requiring treatment, makes it fundamental to discuss procedures already performed in medical practice for early, careful, and individualized recognition of the diagnosis and treatment of the patient. The report aims to present a surgical case of neurofibromatosis, calling attention to the surgical technique, the characteristics of the disease, and the importance of the procedure in the quality of life of patients limited by the condition. Case Report: A 23-year-old male patient with a large mass neurofibroma in the gluteus and posterior surface of the right leg, in addition to café au lait stains in the distal third of the legs. He was treated with surgery to remove the tumor and a flap and graft in the affected region. The procedures were performed by a multidisciplinary team, allowing the total removal of the tumor mass, with subsequent skin grafting in the hip and thigh lesion on the right side and the fasciocutaneous flap in VY in the area. There were no significant complications in the immediate postoperative period. Conclusion: Neurofibromas can become limiting and impair patients' quality of life with neurofibromatosis type 1; therefore, early management and diagnosis are essential. Although the condition does not present a cure, there is a need for research into less invasive and preventive treatments for injuries.

Introdução: A neurofibromatose é um distúrbio autossômico dominante e o tipo 1 está associado a um aumento do risco de formação de tumores com acometimento neurocutâneo. A evolução variável, muitas vezes com tumorações limitantes, além da incidência significativa de casos que necessitam de tratamento, torna fundamental a discussão de condutas já realizadas na prática médica para um reconhecimento precoce, cuidadoso e individualizado do diagnóstico e do tratamento do enfermo. O relato objetiva apresentar um caso cirúrgico de neurofibromatose, chamando atenção para a técnica cirúrgica, as características da doença e a importância do procedimento na qualidade de vida de pacientes limitados pela afecção. Relato de Caso: Paciente de 23 anos, sexo masculino, com neurofibroma de grande massa em glúteo e face posterior da perna direita, além de manchas café com leite em terço distal de pernas. Foi tratado com uma cirurgia de retirada do tumor, além de retalho e enxerto na região acometida. Os procedimentos foram realizados por equipe multidisciplinar, possibilitando a retirada total da massa tumoral, com posterior realização de enxerto de pele na lesão do quadril e coxa em lado direito, e o retalho fasciocutâneo em V-Y na área. Não houve complicações significativas nos pós-operatórios imediatos.

Modified facelift in severe plexiform neurofibromatosis associated with venous vascular malformation: Case report.

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. Her surgical approach using a modified facelift technique associated with partial tumor debulking and lipofilling seems to be a valid technical alternative for these highly complex cases that require a customized approach after exhaustive preoperative evaluation.

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.

Metodología para la atención integral a pacientes con genodermatosis

Las genodermatosis constituyen un grupo de enfermedades genéticas con afectación de la piel y sus anexos. En Cuba, el Programa Nacional de Diagnóstico, Atención y Prevención de Enfermedades Genéticas, en relación a las genodermatosis, no cuenta con protocolos para su diagnóstico, tratamiento y seguimiento. El objetivo del estudio es evaluar una metodología para la atención a los pacientes con genodermatosis. Se realizó en Las Tunas, provincia oriental de Cuba, un estudio cuasi-experimental, aplicándose la variante Delphy del método de expertos, siendo consultados un grupo de especialistas cubanos de dermatología, genética médica clínica y pediatría, con alto nivel científico y experiencia en el trabajo con pacientes con genodermatosis. Diseñándose la metodología que propone el protocolo del diagnóstico, tratamiento y algoritmo de seguimiento para estos pacientes. Se estudiaron 395 pacientes atendidos en el Departamento provincial de Genética Médica. Se estudiaron la tasa de prevalencia, la media de casos diagnosticados por año, la proporción de complicaciones presentadas, el índice de supervivencia e índice de letalidad y para relacionar las variables referentes a la mejoría del estado dermatológico y manifestaciones extracutáneas se utilizó la prueba estadística de Chi cuadrado de Mc-Nemar, con una significación estadística p≤0,05. Después de implementada la metodología, predominó la neurofibromatosis 1, síndrome de Ehlers Danlos clásico e ictiosis vulgar, la media de casos diagnosticados por año aumentó; disminuyeron las complicaciones, predominando las piodermitis (6.13 %); el índice de mortalidad fue bajo (1.27%) con alto índice de supervivencia (98.73%) y mejoría de las manifestaciones dermatológicas (MCNemar X2=90.41558, P=0.000000) y extracutáneas (McNemar X2=24.083334, P=0.000001). La metodología diseñada para la atención a pacientes con genodermatosis fortalece el Programa Nacional de Diagnóstico, Atención y Prevención de Enfermedades Genéticas, demostrando ser efectiva, con mayor número de casos diagnosticados, menor proporción de complicaciones, alta supervivencia, baja letalidad y mejoría clínica de las manifestaciones dermatológicas y extracutáneas.

The genodermatoses constitutes a group of genetic diseases with affectation of the skin and their annexes. In Cuba, the National Program of Diagnostic, Attention and Prevention of Genetic diseases, in relation to the genodermatoses, don't have protocols for their diagnosis, treatment and pursuit. The objective of this study is to evaluate a methodology for the attention to the patients with genodermatosis. Was carried out in The Tunas, oriental county of Cuba, a quasi-experimental study, being applied the varying Delphy of the method of experts, being consulted a group of Cuban specialists of dermatology, genetics clinical doctor and pediatrics, with high scientific level and experience in the work with patient with genodermatoses. Being designed the methodology that proposes the protocol of the diagnosis, treatment and pursuit algorithm for these patients. 395 patients were studied assisted in the provincial Department of Medical Genetics. Were studied the prevalence rate, the stocking of cases diagnosed per year, the proportion of presented complications, the index of survival and lethality index and to relate the relating variables to the improvement of the state dermatologic and extracutaneous manifestations the statistical test of square Chi of Mc-Nemar was used, with a significance statistical p≤0,05. After having implemented the methodology, prevailed the neurofibromatosis, Ehlers Danlos syndrome and ichthyosis vulgaris; the stocking of cases diagnosed per year increased; they diminished the complications, prevailing the piodermitis (6.13%); the index of mortality was low (1.27%) with high index of survival (98.73%) and improvement of the manifestations dermatologic (MCNemar X2=90.41558, P=0.000000) and extracutaneous (McNemar X2=24.083334, P=0.000001). The methodology designed for the attention to patient with genodermatoses strengthens the National Program of Diagnostic, Attention and Prevention of Genetic Illnesses, demonstrating to be effective, with bigger number of diagnosed cases, smaller proportion of complications, high survival, low lethality and clinical improvement of the dermatologic and extracutaneous manifestations.

As genodermatoses são um grupo de doenças genéticas com envolvimento da pele e seus anexos. Em Cuba, o Programa Nacional de Diagnóstico, Cuidado e Prevenção de Doenças Genéticas, em relação às genodermatoses, não possui protocolos para seu diagnóstico, tratamento e acompanhamento. O objetivo do estudo é avaliar uma metodologia para o cuidado de pacientes com genodermatose. Um estudo quase-experimental foi realizado em Las Tunas, província oriental de Cuba, aplicando a variante Delphy do método expert, sendo consultado um grupo de especialistas cubanos em dermatologia, genética médica clínica e pediatria, com alto nível científico e experiência no trabalho com pacientes com genodermatose. Desenho da metodologia que propõe o protocolo de diagnóstico, tratamento e algoritmo de acompanhamento para esses pacientes. Um total de 395 pacientes tratados no Departamento Provincial de Genética Médica foram estudados. Foram estudadas as prevalências, o número médio de casos diagnosticados por ano, a proporção de complicações apresentadas, a sobrevida e o índice de letalidade e para relacionar as variáveis referentes à melhora do estado dermatológico e das manifestações extracutâneas, utilizou-se o teste estatístico Qui-quadrado de Mc-Nemar, com significância estatística p≤0, 05. Após a implementação da metodologia, predominaram a neurofibromatose 1, a síndrome clássica de Ehlers Danlos e a ictiose vulgar, aumentando-se o número médio de casos diagnosticados por ano; complicações diminuídas, predominantemente piodermite (6,13%); a taxa de mortalidade foi baixa (1,27%), com alta sobrevida (98,73%) e melhora dermatológica (MCNemar X2=90,41558, P=0,000000) e extracutânea (McNemar X2=24,083334, P=0,000001). A metodologia desenhada para o cuidado de pacientes com genodermatose fortalece o Programa Nacional de Diagnóstico, Cuidado e Prevenção de Doenças Genéticas, mostrando-se eficaz, com maior número de casos diagnosticados, menor proporção de complicações, alta sobrevida, baixa letalidade e melhora clínica das manifestações dermatológicas e extracutâneas.

Neurofibromatosis type 1 and pulmonary arterial hypertension: A case report.

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.

[Prognostic factors of neurofibromatosis type 1-associated optic pathway gliomas in children]. / Facteurs pronostiques des gliomes des voies optiques associés à la neurofibromatose de type 1 chez les enfants.

INTRODUCTION: Optic pathway glioma (OPG) is a classic complication of neurofibromatosis type 1 (NF1) and can impair visual function in children with this condition. The objective of this study is to describe clinical, paraclinical and prognostic characteristics of OPG associated with NF1. MATERIALS AND METHODS: In this retrospective observational study of children followed for OPG associated with NF1 in a University Hospital, we analyzed the ophthalmological examination, brain and orbital imaging, management and the presence of associated endocrinopathy. RESULTS: We examined 114 children with NF1, of which 26 (22.81%) presented with OPG. Mean ages at diagnosis of NF1 and OPG were 3.83 years and 6.23 years, respectively. Mean visual acuity was 20/24.4 for the worse eye and 20/23.1 for the better eye. The RNFL (retinal nerve fiber layer) was thinner in subjects than in age-matched controls (p <0.0001). Retrochiasmal location of the OPG (DodgeC) was associated with lower binocular visual acuity than other locations and <20/32 (p=0.028); 28.03% of OPG (5 girls and 1 boy) were treated with chemotherapy, and the others were monitored; 19.23% had an associated endocrinopathy. CONCLUSIONS: OPG complicates 22.81% of NF1 cases in our series. Our study shows that retrochiasmal location of the glioma and female sex are poor prognostic factors. It also highlights the important role of OCT, since a decrease in RNFL is statistically associated with the presence of an OPG.

Multiple neuroendocrine neoplasia in a patient with type i neurofibromatosis (nf1): report of a new mutation (nf1, exons 2-30 deletion) and literature review / Neoplasia neuroendócrina múltipla em doente com neurofibromatose tipo 1 (nf1). descrição de uma nova mutação e revisão da literatura

ABSTRACT BACKGROUND: Plexiform neurofibromas represent a common neoplasia of type 1 neurofibromatosis in which neurofibromas arise from multiple nerves involving connective tissue and skin and rarely affect the colon and rectum. Co-occurrence of plexiform neurofibromas, neuroendocrine tumors with primary involvement of the rectum, and medullary thyroid carcinoma in patients with neurofibromatosis type 1 is a previously undescribed condition. The aim of this manuscript was to present a case of primary plexiform neurofibroma and neuroendocrine tumors of the upper rectum in a patient with neurofibromatosis type 1 whose genetic sequencing found a novel mutation in the neurofibromatosis type 1 gene and to review the literature. CASE REPORT: A 49-year-old woman with a familial history of neurofibromatosis type 1 complained of abdominal cramps for 6 months. She had previously been submitted for a total thyroidectomy due to medullary thyroid carcinoma. She was submitted to a colonoscopy, which identified a submucosa lesion located in the upper rectum. The patient was referred for a laparoscopic rectosigmoidectomy, and the histopathological study of the surgical specimen identified two different tumors. An immunohistochemical panel was done for histopathological confirmation of the etiology of both lesions. The results of the panel showed intense immunoexpression of S100 protein in the largest and superficial lesion, as well as positivity for chromogranin and synaptophysin in the minor and deep lesion confirming the diagnosis of rectal plexiform neurofibromas concomitant with neuroendocrine tumors. The proliferative activity rate using Ki-67 antibodies showed that both tumors had a low rate of mitotic activity (<1%). Genetic sequence panel identified an undescribed mutation in the neurofibromatosis type 1 gene (deletion, exons 2-30). The patient's postoperative evolution was uneventful, and she remains well, without recurrence, 3 years after surgery. CONCLUSION: The co-occurrence of medullary thyroid carcinoma, plexiform neurofibromas, and neuroendocrine tumors of the rectum in patients with neurofibromatosis type 1 is an exceptional and undescribed possibility, whose diagnosis can be confirmed by the immunohistochemical staining and genetic panel.

RESUMO RACIONAL: Os neurofibromas plexiformes representam uma neoplasia frequente na neurofibromatose tipo 1 onde os neurofibromas surgem de múltiplos nervos envolvendo, também, o tecido conjuntivo e a pele raramente acometendo o cólon e o reto. A co-ocorrência de neurofibromas plexiformes, tumores neuroendócrinos, com envolvimento primário do reto, e carcinoma medular de tireoide em pacientes com neurofibromatose tipo 1 é uma condição ainda não descrita. O objetivo deste manuscrito é descrever um caso de neurofibromas plexiformes e tumores neuroendócrinos primários do reto superior, em paciente com neurofibromatose tipo 1, cujo sequenciamento genético identificou uma nova mutação no gene neurofibromatose tipo 1 e revisar a literatura sobre o tema. DESCRIÇÃO DO CASO: Mulher de 49 anos, com história familiar de neurofibromatose tipo 1 queixava-se de cólicas abdominais há seis meses. Tinha sido previamente submetida a tireoidectomia total por carcinoma medular de tireoide. Foi submetida a colonoscopia, que identificou lesão submucosa localizada no reto superior. A doente foi encaminhada para retossigmoidectomia laparoscópica, cujo estudo histopatológico do espécime cirúrgico identificou dois tumores distintos. Realizou-se painel imuno-histoquímico para confirmação histopatológica da etiologia de ambas as lesões. O resultado do painel mostrou intensa imunoexpressão da proteína S-100 da lesão superficial e de maior tamanho,e positividade para cromogranina e somatofisina da lesão mais profunda e de menores dimensões confirmando o diagnóstico de neurofibromas plexiformes retal e tumores neuroendócrinos. O índice de atividade proliferativa utilizando o anticorpo ant-Ki-67 mostrou que ambos os tumores apresentavam baixa índice mitótico (<1%). O painel genético identificou mutação no gene neurofibromatose tipo 1 (deleção, exons 2-30) ainda não descrita. A doente apresentou evolução pós-operatória sem intercorrências, permanecendo bem, sem recorrência, três anos após a cirurgia. CONCLUSÕES: A co-ocorrência de carcinoma medular de tireoide, neurofibromas plexiformes e tumores neuroendócrinos do reto em pacientes com neurofibromatose tipo 1 é uma possibilidade excepcional e ainda não descrita, cujo diagnóstico pode ser confirmado pela coloração imuno-histoquímica e painel genético.

Percepção auditiva e desenvolvimento de linguagem oral após cirurgia de implante auditivo de tronco encefálico: uma revisão de escopo / Auditory perception and oral language in brainstem auditory implant users: a scoping review

RESUMO Objetivo mapear as evidências atuais em relação à percepção auditiva da fala e desenvolvimento de linguagem oral em usuários de implante auditivo de tronco encefálico (auditory brainstem implant - ABI), para responder à seguinte questão norteadora: "O que se sabe sobre a habilidade de percepção auditiva da fala e de linguagem oral em indivíduos usuários de implante auditivo de tronco encefálico?" Estratégia de pesquisa a busca foi realizada nas bases de dados BVSalud, PubMed e SciELO e, para literatura cinzenta, utilizou-se a fonte de informação Google Acadêmico, por meio dos descritores: implante auditivo de tronco encefálico (auditory brainstem implantation), linguagem (language), audição (hearing) e percepção auditiva (auditory perception). Critérios de seleção foram incluídos estudos nos quais foram aplicados testes para avalição da percepção auditiva ou para verificar desenvolvimento de linguagem oral em crianças e/ou adultos usuários de ABI. Foram incluídos artigos publicados nos últimos cinco anos e excluídos estudos secundários. Resultados Foram encontrados 1767 artigos nas bases de dados e fonte de informação, dos quais, 27 foram incluídos na revisão. Observou-se que a maioria dos usuários de ABI torna-se capaz de perceber alguns sons ambientais, alguns tornam-se capazes de reconhecer vocábulos, porém, poucos atingem o reconhecimento de frases. Conclusão a maioria dos usuários de ABI não avança para a habilidade de reconhecimento auditivo em conjunto aberto e há unanimidade na recomendação de métodos de comunicação visual para esses indivíduos.

ABSTRACT Purpose This scope review aims to map current evidence in relation to auditory perception of speech and oral language development in users of Auditory Brainstem Implant - ABI, to answer the following guiding question: "what do we know about the ability of auditory perception of speech and oral language in auditory brainstem implants users?" Research strategy The search was performed in the BVSalud, PubMed and SciELO databases and for gray literature the source of information Google Academic, using the descriptors: auditory brainstem implantation , language, hearing and auditory perception. Selection criteria Studies were included in which tests were applied to assess auditory perception or to verify oral language development in children and/or adults using ABI. Articles published in the last five years were included and secondary studies were excluded. Results 1767 articles were found in the databases and source of information, of which 27 studies were included. It was observed that most users of ABI become able to perceive some environmental sounds, some become able to recognize words, but few reach the recognition of sentences. Conclusion Most ABI users do not advance towards the open set auditory recognition skill and there is unanimity in recommending visual communication methods for these individuals.

[Malignant Triton tumour: A case report]. / Tumeur Triton maligne : à propos d'un cas.

Malignant Triton tumour (MTT) is a subtype of malignant peripheral nerve sheaths tumour (MPNST) with exclusive heterologous rhabdomyosarcomatous contingent. MTT is rare and of poor prognosis. This entity illustrates the great heterogeneity of MPNST, the diagnosis of which is difficult in the absence of a specific marker, especially in sporadic forms. Although MTT preferentially develop in patients with type 1 neurofibromatosis, sporadic cases may occur. We herein present a case of MTT of the left arm, occurring in a 74-year-old patient, without clinical context of NF1. The fast-growing tumour reached 9.2cm of greater dimension at the time of surgical excision. Histology showed a spindle cell sarcoma with rhabdoid cell areas expressing myogenin. In the absence of neural crest markers expression, the diagnosis of MPNST was based on a significant loss of expression of the histone 3 tri-methylated lysine 27, a classical although not specific epigenetic mark for this sarcoma group, and on the identification of the heterologous rhabdomyosarcomatous contingent, previously described in the context of MTT.

Enfermedad de Von Recklinghausen con luxación recurrente de la cadera y osteonecrosis. Presentación de un caso / Von Recklinghausen disease with recurrent hip dislocation and Osteonecrosis. Case presentation

RESUMEN La enfermedad de Von Recklinghausen (Neurofibromatosis tipo 1) es una de las enfermedades autosómicas dominantes más comunes que afecta a los humanos. La alteración esquelética más frecuente es la cifoescoliosis (por displasia vertebral), que puede ser progresiva y acompañarse de problemas respiratorios de tipo restrictivo o alteraciones cardíacas. La luxación de cadera asociada a la neurofibromatosis tipo 1 es muy poco frecuente, así como la osteonecrosis. Las diferentes modalidades de estudios imagenológicos juegan un importante papel en el diagnóstico y seguimiento de dicha entidad nosológica. Por lo poco común de la luxación de cadera con osteonecrosis asociada a la neurofibromatosis tipo 1, se decidió presentar el caso de una paciente de color de piel blanca, de 47 años de edad.

ABSTRACT Von Recklinghausen disease (neurofibromatosis type 1) is one of the most common autosomal dominant diseases which affect humans. The most frequent skeletal alteration is kyphoscoliosis (due to vertebral dysplasia), which can be progressive and accompanied by restrictive type respiratory problems or cardiac alterations. Hip dislocation associated with neurofibromatosis type 1 is very rare, as is osteonecrosis. The different modalities of imaging studies play an important role in the diagnosis and monitoring of this nosological entity. Due to the rare occurrence of hip dislocation with osteonecrosis associated with neurofibromatosis type 1, it was decided to present the case of a 47-year-old white patient.

[Hereditary predisposition to tumors of the central and peripheral nervous systems]. / Prédisposition héréditaire aux tumeurs des systèmes nerveux central et périphérique.

Some tumors of the central and peripheral nervous system may be associated with a cancer predisposition syndrome, either hereditary or occurring de novo. Such a syndrome is usually associated with multiple tumors occurring early in life. Patients with neurofibromatosis type 1 present with multiple neurofibromas, especially of the plexiform type (which may transform into malignant peripheral nerve sheath tumor), and pilocytic astrocytomas of the optic pathways. Neurofibromatosis type 2 patients present with multiple schwannomas (typically bilateral vestibular schwannomas), meningiomas, and ependymomas. Li-Fraumeni syndrome (germline TP53 mutation) is associated with choroid plexus tumors (carcinomas), medulloblastomas, and diffuse astrocytomas. Multiple hemangioblastomas are characteristic of von Hippel-Lindau syndrome while subependymal giant cell astrocytomas are pathognomonic of tuberous sclerosis complex. Dysplastic cerebellar gangliocytomas of adult patients occur in Cowden syndrome. Turcot syndrome overlaps with constitutional mismatch repair deficiency syndrome (CMMRD), which is associated with giant cell glioblastomas. Rhabdoid tumor predisposition syndrome (germline mutation of SMARCB1/INI1) is associated with atypical teratoid/rhabdoid tumors. Tumors arising in the setting of a cancer predisposition syndrome develop along specific genetic pathways. Some histopathological and immunohistochemical characteristics of these tumors may point toward such a syndrome. The diagnosis of a cancer predisposition syndrome is of tremendous importance to the patients and their families who require genetic counseling and long-term follow-up.

[Wild-type gastroinestinal stromal tumors]. / Les tumeurs stromales gastro-intestinales sauvages.

Gastrointestinal stromal tumors (GIST) are the most common non-epithelial tumors of the gastrointestinal tract. Wild-type GISTs (WT-GIST) consist of a rare heterogeneous group characterized by the lack of activating mutations in the tyrosine kinase receptor (Kit) and/or platelet derived growth factor receptor A (PDGFRA). However, WT-GIST is characterized by other genomic alterations, including dehydrogenase succinate (SDH) deficiency or mutations in the Ras pathway. Recent studies have reported many mutations in others genes that may be incriminated in the development of WT-GISTs. Moreover, WT-GIST is frequently associated with hereditary cancer syndromes such as the Carney Triad and Type 1 Neurofibromatosis (NF1). WT-GIST affects usually young and pediatric patients. Most WT-GIST subtypes are insensitive to imatinib; therefore, their therapeutic management is somewhat different from usual GISTs. This review resumes the molecular and therapeutic features of this rare entity.

Solitary central neurofibroma of the maxilla: A Case Report / Neurofibroma central de maxilla: relato de caso

Neurofibroma is a benign tumor which rarely occurs in the oral cavity. Generally, oral neurofibroma is part of a neurofibromatosis type-1 like syndrome (Von Recklinghausen's disease) and rarely occurs as a solitary lesion of oral cavity. Up to now, few cases have been reported with the solitary neurofibromas of tongue and submandibular gland. The tumor can also be rarely located centrally in the bone. This research presents a central neurofibroma case in the maxillary bone which has no relationship with the neurofibromatosis. (AU)

O neurofibroma é um tumor benigno que raramente ocorre na cavidade oral. Geralmente, oral neurofibroma é parte de da neurofibromatose tipo 1 (Von Recklinghausen's doença) e raramente ocorre como uma lesão solitária da cavidade oral. Até agora, poucos casos foram relatado com os neurofibromas solitários de língua e glândula submandibular. O tumor também raramente pode estar localizado centralmente no osso. Esta pesquisa apresenta um neurofibroma central caso no osso maxilar que não tem relação com a neurofibromatose (AU)

Reduced bone mineral content and density in neurofibromatosis type 1 and its association with nutrient intake

SUMMARY BACKGROUND Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disease characterized by multisystem involvement including low bone mineral density (BMD). OBJECTIVE To assess the bone phenotype of individuals with NF1 and verify its association with nutrient intake. METHODS Twenty-six adults with NF1 underwent bone phenotype assessments using dual-energy X-ray absorptiometry (DXA) and food intake evaluations. They were compared to 26 unaffected matched control patients. Weight, height, and waist circumference (WC) were measured. DXA provided total body, spine, and hip BMDs and bone mineral content (BMC) for all patients. Food intake was evaluated for energy, macro- and micro-nutrients. RESULTS Height (1.68 ± 0.1; 1.61 ± 0.1 cm; P = 0.003) and BMC (2.3 ± 0.4; 2.0 ± 0.5 kg; P = 0.046) were lower in the NF1 group. Individuals with NF1 also presented lower total body and spine BMDs (g/cm2) (1.1 ± 0.1, 1.0 ± 0.1, P = 0.036; 1.0 ± 0.1, 0.9 ± 0.1; P = 0.015, respectively). The frequency of total body bone mass below the expected level for patients' ages was higher in the NF1 group (7.7%; 34.6%, P = 0.016). There were no differences in energy consumption. No correlations between BMC and BMD with nutrient intake were observed in the NF1 group. CONCLUSIONS The NF1 group presented lower BMCs and BMDs. Although a lower consumption of calcium, iron, and vitamin A, and a higher intake of sodium and omega-6 were observed, there was no relationship between bone phenotype and nutrient intake.

RESUMO INTRODUÇÃO A Neurofibromatose tipo 1 (NF1) é uma doença genética autossômica dominante caracterizada por envolvimento neurocutâneo e multissistêmico, incluindo baixa densidade mineral óssea (DMO). OBJETIVOS Avaliar características ósseas em indivíduos com NF1 e verificar associação com a ingestão de nutrientes. METODOLOGIA 26 adultos com NF1 submeteram-se a avaliação dos parâmetros ósseos usando absorciometria com raios-X de dupla energia (DXA), além da avaliação da ingestão alimentar. O grupo NF1 foi comparado e pareado com 26 indivíduos sem a doença. Peso, estatura e circunferência da cintura foram avaliados. DXA forneceu o conteúdo mineral ósseo (CMO) e a DMO do corpo total, coluna e fêmur. A ingestão de calorias, macronutrientes e micronutrientes foi avaliada. RESULTADOS O grupo NF1 apresentou redução da estatura (1,68 ± 0,1; 1,61 ± 0,1 cm; P=0,003) e do CMO (2,3 ± 0,4; 2,0 ± 0,5 kg; P=0,046). Indivíduos com NF1 também apresentaram redução da DMO de corpo total e coluna (g/cm2) (1,1 ± 0,1, 1,0 ± 0,1, P=0,036; 1,0 ± 0,1, 0,9 ± 0,1; P=0,015, respectivamente). A frequência de indivíduos com massa óssea abaixo do esperado para a idade foi maior no grupo NF1 (7,7%; 34,6%, P=0,016). Não houve diferenças no consumo energético. Não houve correlação entre CMO e DMO com a ingestão de nutrientes no grupo NF1. CONCLUSÕES O grupo NF1 apresentou redução do CMO e da DMO. Apesar de menor consumo de cálcio, ferro e vitamina A, e maior consumo de sódio e ômega-6, não foi observada relação entre o fenótipo ósseo e a ingestão de nutrientes.

Jejunal stromal tumor and neurofibromatosis / Tumor estromal de jejuno e neurofibromatose

Abstract Gastrointestinal stromal tumors, although rare, are the most common primary mesenchymal neoplasms of the gastrointestinal tract and originate from the interstitial cells of Cajal. They present slow growth and symptoms such as bleeding, abdominal pain or discomfort, and the presence of an abdominal mass. The most affected organs are the stomach and small intestine. Differential diagnoses for gastrointestinal stromal tumor include adenocarcinoma and small intestine lymphoma, metastasis, and carcinoid tumor. Gastrointestinal stromal tumors have been associated with familial syndromes such as type 1 neurofibromatosis, considered a predisposing factor for tumors in the small intestine. This study aimed to report a case of gastrointestinal stromal tumor in the jejunal region in a patient with type 1 neurofibromatosis, followed-up for two years, who underwent laparoscopic segmental enterectomy and diagnosis determined by histopathology and immunohistochemistry. The diagnosis of small intestine gastrointestinal stromal tumor is challenging because of its low incidence, nonspecific symptoms, relative inaccessibility of the small intestine to conventional endoscopic examination, broad spectrum of radiological appearances, and the fact that the nature of the mass is difficult to determine with imaging examinations of the abdomen alone. Thus, the small intestine gastrointestinal stromal tumor may be erroneously diagnosed as pancreatic, gynecological, or mesenteric tumors. The literature does not present many reports on the association of jejunal gastrointestinal stromal tumor with neurofibromatosis. Understanding the tumoral behavior of small intestine gastrointestinal stromal tumor in this subgroup of patients would allow better follow-up.

Resumo Os tumores estromais gastrointestinais, embora raros, são as neoplasias mesenquimais primárias mais comuns do trato gastrointestinal e originam-se das células intersticiais de Cajal. Apresentam crescimento lento e manifestam sintomas como sangramento, dor ou desconforto abdominal e presença de massa abdominal. Os órgãos mais acometidos são estômago e intestino delgado. Os diagnósticos diferenciais para tumores estromais gastrointestinais incluem adenocarcinoma e linfoma de intestino delgado, metástases e tumor carcinoide. Os tumores estromais gastrointestinais têm sido associados a síndromes familiares como a neurofibromatose tipo 1, considerada um fator predisponente para tumores no intestino delgado. O objetivo desse trabalho é relatar um caso de tumor estromal gastrointestinal em região jejunal em paciente portadora de neurofibromatose tipo 1, com 2 anos de seguimento, submetida a enterectomia segmentar laparoscópica e diagnóstico determinados pela histopatologia e imuno-histoquímica. O diagnóstico de tumor estromal gastrointestinal do intestino delgado é desafiador, devido a sua baixa incidência, sintomas inespecíficos, relativa inacessibilidade do intestino delgado ao exame endoscópico convencional, amplo espectro de aparências radiológicas e difícil determinação da natureza da massa apenas com exames de imagens do abdome. Assim, tumor estromal gastrointestinal no intestino delgado podem ser erroneamente diagnosticados como tumores pancreáticos, tumores ginecológicos, ou tumores do mesentério. A descrição científica da associação de tumor estromal gastrointestinal de jejuno com neurofibromatose é incomum. Tais descrições permitem melhor seguimento dos pacientes a partir do momento que se entende o comportamento tumoral do tumor estromal gastrointestinal de intestino delgado nesse subgrupo de pacientes.

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.

Luxación recidivante de la cadera en la neurofibromatosis tipo-1 / Recurrent hip dislocation in neurofibromatosis type-1

RESUMEN Introducción: La neurofribomatosis tipo 1 es un desorden genético común que puede afectar el esqueleto de forma frecuente. Las manifestaciones esqueléticas de la neurofibromatosis tipo 1 incluyen escoliosis, pseudoartrosis congénita de tibia y lesiones quísticas intraoseas. Objetivo: Describir las características clínicas e imagenológicas de esta enfermedad, encontradas en el caso que se presenta, así como el tratamiento realizado y la evolución de la paciente. Presentación del caso: Se presenta una luxación de la cadera resultante de un neurofibroma intraarticular en una paciente femenina de 17 años que sufrió un trauma menor. La luxación y su causa en esta paciente fueron sospechadas en un inicio por el cuadro clínico y los hallazgos anormales en las primeras radiografías de pelvis, y más tarde fue confirmada con tomografía axial computarizada e imágenes por resonancias magnéticas. Se le realizó una reducción cerrada bajo anestesia general con posterior tracción por partes blandas durante cuatro semanas. El caso fue seguido por consulta externa durante un año sin presentar un nuevo episodio de luxación de cadera. Conclusiones: La luxación recidivante de cadera asociada con neurofibromatosis tipo 1 es una ocurrencia rara y está poco reportada en la literatura. Este caso ilustra las características clínicas y sobre todo imagenológicas de la neurofibromatosis tipo 1, mediante las radiografías, imágenes por resonancia magnética y tomografía axial computarizada con reconstrucción. El tratamiento realizado, reducción cerrada bajo anestesia general con posterior tracción por partes blandas durante cuatro semanas, fue satisfactorio(AU)

ABSTRACT Introduction: Neurofribomatosis type 1 is a common genetic disorder that can frequently affect the skeleton. Skeletal manifestations of type 1 neurofibromatosis include scoliosis, congenital pseudoarthrosis of the tibia, and intraosseous cystic lesions. Objective: To describe the clinical and images characteristics of this disease, which are present in the case we report, and to describe the treatment and evolution of the patient. Case report: A hip dislocation resulting from an intra-articular neurofibroma is presented in a 17-year-old female patient who suffered minor trauma. Dislocation and its cause in this patient were initially suspected due to the clinical condition and abnormal findings on the first pelvis x-rays and later it was confirmed by computed tomography and magnetic resonance imaging. Closed reduction was performed under general anesthesia with posterior soft tissue traction for four weeks. The case was followed by outpatient consultation for one year with no new episode of hip dislocation. Conclusions: Recurrent hip dislocation associated with neurofibromatosis type 1 is a rare occurrence and it is poorly reported in the literature. This case illustrates the clinical and particularly imaging characteristics of type 1 neurofibromatosis, using x-rays, magnetic resonance imaging, and computed tomography with reconstruction. Closed reduction under general anesthesia was the treatment performed followed by soft tissue traction for four weeks, which was satisfactory(AU)

RÉSUMÉ Introduction: La neurofibromatose de type 1 (NF1) est un trouble génétique commun qui peut affecter fréquemment le squelette. Les manifestations squelettiques de la neurofibromatose de type 1 comprennent la scoliose, la pseudarthrose congénitale du tibia et les lésions kystiques intra-osseuses. Objectif: Décrire les caractéristiques cliniques et radiographiques de cette maladie rencontrées dans ce cas, ainsi que le traitement appliqué et l'évolution de la patiente. Présentation du cas: Le cas d'une patiente âgée de 17 ans atteinte de luxation de la hanche dû à un neurofibrome intra-articulaire et souffrant un traumatisme insignifiant, est présenté. Dès le début, la luxation et sa cause ont été suspectées, étant donné le tableau clinique et les résultats anormaux des premières radiographies du bassin, qui ont été confirmés plus tard par tomographie axiale assistée par ordinateur et IRM. Une réduction fermée sous anesthésie générale avec une traction postérieure des parties molles pendant quatre semaines a été réalisée. Ce cas a été suivi en consultation externe pendant un an sans présenter un nouvel épisode de luxation de hanche. Conclusions: La luxation récidivante de hanche liée à une neurofibromatose de type 1 est une affection rare et peu abordée dans la littérature. Ce cas met en évidence les caractéristiques cliniques, et particulièrement radiographiques, de la neurofibromatose de type 1 au moyen de radiographies, IRM et tomographie avec reconstruction. Le traitement appliqué, c'est-à-dire, la réduction fermée sous anesthésie générale avec une traction postérieure des parties molles pendant quatre semaines, a été satisfaisant(AU)