Application of peroral endoscopic-assisted laryngeal microsurgery in children with laryngeal neurofibromas / 临床耳鼻咽喉头颈外科杂志

Objective:To investigate the clinical manifestations and the effect of peroral endoscopic-assisted laryngeal microsurgery for children with laryngeal neurofibroma, and to provide clinical reference for the diagnosis and treatment of this disease. Methods:The clinical data of 4 children with laryngeal tumors admitted to the Department of Otorhinolaryngology, Children's Hospital of Chongqing Medical University from January 2021 to June 2023 were retrospectively analyzed. Laryngeal tumors were removed by peroral endoscopic-assisted laryngeal microsurgery. One case underwent tracheotomy at the same time, and one case was simultaneously performed with laryngeal T tube placement and tracheotomy. Results:Surgical resection is the best treatment for laryngeal neurofibroma, and laryngeal microsurgery should be actively used for patients with surgical indications.This surgical method has the advantages of good efficacy, minimal invasion, aesthetics and preservation of laryngeal function, which not only ensures safety, but also improves the quality of life after surgery, and has the value of development and promotion.

COMPLEJO ESCLEROSIS TUBEROSA: a propósito de un caso clínico / TUBEROUS SCLEROSIS COMPLEX: about a clinical case

RESUMEN El Complejo Esclerosis Tuberosa (CET) es un síndrome neurocutáneo multisistémico que pertenece al grupo de las genodermatosis, de transmisión de herencia autosómica dominante con alta penetrancia y muy variable expresividad fenotípica. Es producido por mutaciones en los genes TSC1 y TSC2. Se caracteriza por la triada de epilepsia, retraso madurativo y angiofibromas. El diagnóstico es clínico y consiste en ensamblar los signos clínicos identificados, con los criterios diagnósticos consensuados de criterios principales y secundarios. Presentamos un paciente adulto con antecedentes de retraso madurativo y epilepsia desde la infancia en tratamiento y seguimiento por neurología desde entonces; y antecedentes familiares de síndrome convulsivo en sus hermanos, a quien se le realiza diagnóstico tardío de CET al momento de la consulta, cumpliendo con los criterios para el mismo.

ABSTRACT Tuberous Sclerosis Complex (TSC) is an autosomal dominant multisystem neurocutaneous syndrome with almost complete penetrance but variable expressivity. This genodermatosis occurs upon mutation of TSC1 and TSC2 genes. It is characterized by the classic triad of seizures, mental retardation and cutaneous angiofibromas. The diagnosis of TSC is based by the presence of major and minor criteria. We report the case of an adult male patient with personal history of mental retardation in addition with personal and family history of seizures since childhood.

Intramandibular plexiform schwannoma presenting as a nonspecific benign lesion: How specific can we be? A case report with a review of the literature

Schwannoma, a benign nerve sheath tumor, is quite rare and more so in jawbones. We report a rare case of a plexiform variant of mandibular schwannoma in a 12-year-old female with a swelling in the left mandible. Clinical features were suggestive of dentigerous cyst as a result of missing premolars and canine. Occlusal and panoramic radiography revealed an osteolytic lesion with scalloping margins, bicortical plate expansion, and agenesis of several teeth. Odontogenic keratocyst, central giant cell granuloma, odontogenic myxoma, and ameloblastic fibroma were given as radiological differential diagnoses. Histopathological examination revealed features of plexiform schwannoma which was given as the final diagnosis. The lesion was treated with surgical excision. Although odontogenic cysts/tumors are often thought of in differential diagnosis whenever well-defined radiolucencies in the jaw are encountered, it is prudent to include schwannoma. This exceptional case adds light to the fact that schwannoma should not be overlooked though it is a rare possibility and must be included in differential diagnosis of odontogenic cysts/tumors

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.

Tardy Ulnar Nerve Palsy by Neurofibroma

Tardy ulnar nerve palsy is ulnar neuropathy at or around elbow and commonly evaluated in the electromyography laboratory. However, ulnar neuropathy at the elbow due to neurofibroma is rare. Neurofibromas are tumors that arise within nerve fasciculi and anywhere along a nerve from dorsal root ganglion to the terminal nerve branch. We report one case of ulnar neuropathy at the elbow due to neurofibroma. Patient had paresthesia on the left 5th finger and there had been left hypothenar atrophy since 2 months ago. Tinel's sign was positive at left elbow. As a result of electromyography, there were suggestive of right ulnar neuropathy at or around elbow, referred to as tardy ulnar nerve palsy. Ultrasonography showed a diffuse tortuous thickening with multiple neurofibromas arising from individual fascicles of the ulnar nerve in cubital tunnel area. Surgery was then performed to release cubital tunnel of left elbow, then the patient's symptoms improved.

Clinical features of and treatment strategies for primary retroperitoneal neurofibromas: clinical analysis of 7 cases / 中华普通外科杂志

Objective To investigate the clinical features,diagnosis and treatment strategies for primary retroperitoneal neurofibromas.Methods The clinical data of 7 patients with primary retroperitoneal neurofibromas admitted to Cancer Institute & Hospital,Chinese Academy of Medical Sciences,from Jan 2000 to Jul 2017,were retrospectively analyzed.Results The average age was (42 ± 11) years and six were female.6 cases were with solitary tumor and 1 case was with multiple tumors.Clinical symptoms and imaging were of no help in determining tumor type.All patients underwent surgical resection.Postoperative pathology confirmed retroperitoneal neurofibroma in all seven patients,including 1 case with neurofibromatosis type Ⅰ and retroperitoneal malignant peripheral nerve sheath tumor.On immunohistochemistry all of the tumors were S-100 protein positive.At the end of the follow-up period ranging from 14 months to 166 months,sevent patients were alive and two patients experienced tumor recurrence.The longest disease-free survival time was 166 months.Conclusion Primary retroperitoneal neurofibromas are a rare type of primary retroperitoneal tumors that require diagnosis at pathology.Clinical symptoms and imaging of primary retroperitoneal neurofibromas patients were found to be ineffective at determining tumor type.Patients had a good prognosis after tumor resection.

A Terapia hormonal em pacientes com neurofibromatose tipo 1 é segura? / Hormonal therapy in patientes with neurofibromatosis type 1 is safe?

Nos pacientes com neurofibromatose tipo 1 (NF1), o número de neurofibromas varia grandemente de pessoa para pessoa, mesmo em casos intrafamiliares, com a mesma mutação na linhagem germinativa no gene NF1. Além das mutações nesse gene, provavelmente fatores adicionais são importantes no desenvolvimento ou no crescimento dos neurofibromas. O objetivo deste artigo é revisar a literatura sobre o papel dos hormônios no desenvolvimento e crescimento dos neurofibromas e a segurança da terapia hormonal nos pacientes com NF1

In patients with neurofibromatosis type 1 (NF1), the number of neurofibromas varies greatly from person to person, even in intrafamilial cases, with the same germline mutation in the NF1 gene. In addition to the mutations in this gene, it is likely that additional factors are important in neurofibroma development or growth. The purpose of this article is to review the literature on the role of hormones in the development and growth of neurofibromas and the safety of hormonal therapy in patients with NF1

Doença de Von Recklinghausen: relato de caso e revisão da literatura / Von Recklinghausen disease: case report and literature review

Os autores apresentam uma revisão da literatura sobre a doença de Von Recklinghausen (neurofibromatose tipo 1) e relatam o caso clínico de uma paciente com comprometimento estomatológico abrangente, evidenciando as características clínicas e radiográficas desta enfermidade. A neurofibromatose é uma doença neurocutânea que apresenta, pelo menos, oito formas reconhecidas, sendo a neurofibromatose tipo 1 (NF1) a mais comum. Embora considerada uma desordem dermatológica, a presença de sinais na cavidade bucal de pacientes com neurobibromatose é bastante referenciada. Paciente de 22 anos, do gênero feminino, procurouo Serviço de Estomatologia do Hospital de Clínicas de Porto Alegre referenciando aumento de volume na faceque lhe comprometia a visão. O exame intrabucal revelou aumento de volume de consistência amolecida nos rebordos alveolares superior e inferior do lado esquerdo e, radiograficamente, constatou-se amplo comprometimento ósseo. Após criterioso exame, o quadro clínico observado foi sugestivo de NF1, diagnóstico confirmado pelo exame histopatológico. A extensão do dano, tanto funcional como estético, que pode ser causado pela NF1 e o potencial de transformação maligna da lesão tornam o diagnóstico precoce da enfermidade fundamental para o prognóstico do caso. Além disso, a possibilidade de envolvimento do sistema estomatológico insere o cirurgião-dentista entre os profissionais responsáveis pela identificação dessa doença.

The authors present a Von Recklinghausen Disease(neurofibromatosis type 1) literature review and report aclinical case of a patient with massive stomatologic injuries,focusing on its clinical and radiographic aspects.Neurofibromatosis is a neurodermal disease, which might appear in at least eight different forms, being the neurofibromatosis type 1 (NF1) the most common. While typically considered a dermatologic disorder, intraoralsigns occur quite commonly. A 22-year-old female patient attended at the HCPA Estomatologic Service referringa swelling in the face, which was compromisingher vision. Physical examination has revealed swellingin both upper and lower alveolar ridges on the left side,and, radiographically, it showed high bone injury. After a careful examination, signs and symptoms suggested NF1, later confirmed by histological examination. The functional and aesthetic damage that NF1 may cause tothe patient and the increased risk of malignancy transformation make the early diagnosis fundamental to caseprognosis. The presence of oral manifestations makes the dentist, amongst other professionals, responsible for the disease identification.

Tratamento de lesões cutâneas múltiplas na neurofibromatose tipo 1: nova técnica de excisão eletrocirúrgica / Treatment of multiple cutaneous lesions in neurofibromatosis type 1: new excision electrosurgical technique

A neurofibromatose tipo 1 (NF1) é um distúrbio autossômico dominante que apresenta lesões cutâneas múltiplas, frequentemente chegando à faixa de 500 a 1.000 lesões. Além das implicações psicológicas, as lesões apresentam um difícil dilema cirúrgico pela existência de limitadas opções. Os autores apresentam uma série de 175 pacientes com inúmeras lesões cutâneas tratadas com uma nova abordagem, utilizando a excisão por eletrocautério. A técnica resulta na remoção de grandes números de lesões com uma discreta cicatriz, um mínimo de desconforto e uma significativa satisfação do paciente.

Tumores intradurales extramedulares primarios tratados en el Instituto Nacional de Rehabilitación / Primary intradural extramedullary tumors treated at the National Institute of Rehabilitation (Mexico)

Introducción: Los tumores de la columna son lesiones poco comunes que afectan a una porción menor de la población, sin embargo, pueden causar morbilidad significativa y estar asociados a mortalidad. Representan 15 % de los tumores craneoespinales. El objetivo del presente trabajo fue definir la frecuencia de tumores intradurales extramedulares de columna vertebral en el Servicio de Cirugía de Columna Vertebral del Instituto Nacional de Rehabilitación, y su diagnóstico histopatológico definitivo. Material y métodos: Estudio retrospectivo de una serie de pacientes tratados quirúrgicamente entre 1996 y 2006 por diagnóstico de tumor intradural extramedular. Se evaluó sexo, edad, localización, sintomatología y tipo de tumor. Resultados: Se revisaron 27 pacientes, 11 hombres y 16 mujeres, con edad promedio de 47.33 años. Los síntomas principales fueron dolor y pérdida de la fuerza. La localización más frecuente fue la torácica seguida de la lumbar; el diagnóstico histopatológico indicó meningioma en 12 casos, schwannoma en 12 y neurofibroma en tres. Conclusiones: La sintomatología, localización y predominio de sexo son similares a los informados en la literatura. A diferencia de otras series, los tumores más frecuentes en la nuestra fueron schwannomas y meningiomas. Es importante el diagnóstico oportuno y tratamiento adecuado, que en nuestros pacientes consistió en resección total con laminoplastia, para evitar secuelas neurológicas permanentes.

BACKGROUND: Spine tumors are uncommon injuries affecting a low percentage of the population; however, these tumors can cause significant morbidity and may be related to mortality. They represent 15% of craniospinal tumors. The objective of this study is to determine the frequency of intradural extramedullary spine tumors treated in our Service and to report the definitive histopathological diagnosis. METHODS: This was a retrospective study in a series of patients treated surgically with a diagnosis of intradural extramedullary tumor in the Spine Service of the National Rehabilitation Institute (Mexico) from 1996 to 2006. The following variables were evaluated: gender, age, tumor localization, symptomatology and type of tumor. RESULTS: Files of 27 patients were reviewed. There were 11 men and 16 women with an average age of 47.33 years. The main symptoms were pain and motor weakness. The most frequent localization was thoracic followed by lumbar. Histopathological diagnosis reported 12 cases of meningioma, 12 cases of schwannoma and 3 cases of neurofibroma. CONCLUSIONS: Symptomatology, localization and gender predominance are similar to that reported in the literature. Different from other series, schwannomas and meningiomas were the most frequent tumors in our study. Appropriate diagnosis and opportune treatment consisting of total resection with laminoplasty are crucial in order to avoid permanent neurological consequences.

Neurofibromatose tipo 1: atualização / Neurofibromatosis type 1: update

JUSTIFICATIVA E OBJETIVOS: A neurofibromatose, descrita pelo patologista von Recklinghausen, é uma doença neurológica hereditária, sendo a neurofibromatose do tipo 1 (NF1) a forma mais freqüente das facomatoses autossômicas dominantes. O objetivo deste estudo foi discutir as características clínicas da NF1 e o manuseio multidisciplinar do paciente. CONTEÚDO: A NF1 é uma condição com complicações variadas, ocorrendo ao longo do curso da doença. Manchas café-com-leite, pseudo-artrose e neurofibromas plexiformes visíveis podem ser identificados durante a infância. Efélides, gliomas ópticos e grave escoliose ocorrem na primeira década de vida. Durante o curso, neurofibromas cutâneos e nódulos de Lisch da íris geralmente aparecem durante a segunda década. Embora os neurofibromas sejam uma característica benigna da doença, eles podem ser dolorosos, debilitantes, desfigurantes e podem crescer o suficiente para incluir regiões íntegras do corpo. Os diagnósticos diferenciais da NF1 incluem outras formas de neurofibromatose e doenças om manchas café-com-leite. O gene NF1 foi localizado no cromossomo 17 (17q11.2) e aproximadamente 50% dos casos representam mutações novas. O diagnóstico do defeito genético em pacientes com NF1 é difícil. O manuseio inclui o aconselhamento genético, exame oftalmológico regular e cuidadoso exame físico. Exames de imagem são indicados somente quando os pacientes estão sintomáticos. CONCLUSÃO: O diagnóstico da NF1 é feito com base no quadro clínico. Consultas médicas regulares a uma clínica multidisciplinar são essenciais. Nos primeiros 10 anos de vida, exames são recomendados. Não há tratamento efetivo para a NF1.(AU)

BACKGROUND AND OBJECTIVES: Neurofibromatosis, described by the pathologist von Recklinghausen, is a hereditary neurological disorder and the neurofibromatosis type 1 (NF1) is the most common form of autosomal dominant phakomatoses. In this review, we will discuss the clinical features of NF1 and the multidisciplinary management of the patient. CONTENTS: NF1 is a progressive condition with variable complications occurring over the time course of the disease. Café-au-lait spots, pseudarthrosis and externally visible plexiform neurofibromas can generally be identified during infancy. Freckling, optic gliomas and severe scoliosis occur within the first decade of life. On progression, cutaneous neurofibromas and iris Lisch nodules usually appear during the second decade. Although neurofibromas are a benign hallmark of the disease, they can be painful, debilitating, disfiguring and can grow large enough to encompass an entire body region. The differential diagnoses of NF1 include other forms of neurofibromatosis and conditions with café-au-lait spots. The NF1 gene was localized in the region 17q11.2 and approximately 50% of the cases represent new mutations. Molecular diagnosis of the genetic defect in NF1 patients is difficult. Management includes genetic counseling, regular eye examinations, and careful physical exams. Malignancy is primarily a complication of young adults with NF1. Imaging studies are indicated only when patients are symptomatic. CONCLUSION: The diagnosis of NF1 is made on the basis of clinical features. Regular medical appointments to a multidisciplinary clinic are essential. In the first 10 years of life, annual examinations are recommended. There is no effective treatment for NF1.(AU)

Neurofibroma oral associado à neurofibromatose tipo 1: relato de caso / Oral neurofibroma in association wit neurofibromatosis type 1: case report

A neurofibromatose tipo 1, também denominada como doença cutânea de von Recklinghausen, foi descrita pela primeira vez por Friedrich Daniel von Recklinghausen em 1882. é uma doença hereditária autossômica dominante, caracterizada por pigmentações cutâneas descritas como manchas "café com leite", múltiplos neurofibromas, além de nódulos de Lisch na íris, sinal de Crowe, tumores no sistema nervoso central, macrocefalia, deficiência mental, crises nervosas, baixa estatura e escoliose. O presente trabalho tem por objetivo relatar o caso clínico de um paciente portador da neurofibromatos e tipo 1 que apresentava um neurofibroma oral localizado no palato, que causava dificuldades durante a mastigação e deglutição.

Neurofibromatosis type 1, also denominated as von Recklinghause's neurofibromatosis, was first describeb by Friedrich Daniel von Recklinghause in 1882. It is an autosomic deminant inheritance disease characterizad by café' au lait spots, multiples neurofibromas, Lisch nodules, Crowe signal, tumor of central nervous system, mental deficiency, nervous crisis, small size, and scoliosis. The aim of this study is to describe one case of neurofibromatosis type 1. The patient had an oral neurofibroma, localized in hard palate that made his mastication anddeglutition very difficult.

Aspectos histoquímicos e imunoistoquímicos nos neoplasmas do sistema nervoso periférico / Histochemical and immunohistochemical features of peripheral nerve neoplasms

Doze casos de tumores do sistema nervoso periférico, sete schwannomas e cinco neurofibromas foram diagnosticados entre 1964 e 2004, em caninos e bovinos. Histologicamente, as células predominantes nos schwannomas eram fusiformes organizavam-se em paliçada ou em feixes aleatórios. Nos neurofibromas as células neoplásicas eram fusiformes e se originavam da periferia dos nervos formando ninhos e feixes. O tecido conjuntivo era mais abundante nos neurofibromas e os colágenos dos tipos I e III eram os principais constituintes desses neoplasmas. Os neurofibromas foram caracterizados por uma concentração alta e difusa de mastócitos, provavelmente devido à origem das células neoplásicas do perineuro e epineuro. A coloração de AgNOR não se mostrou eficiente como indicador de prognóstico nos neoplasmas analisados. Imunoistoquímicamente houve forte marcação para vimentina (100 por cento) e S100 (100 por cento) em ambos os tipos de tumor. A maioria dos schwannomas (75 por cento) foi positiva para a proteína ácida fibrilar glial; os neurofibromas só apresentaram marcação nas células de Schwann dos fascículos nervosos

A retrospective study of peripheral nerve tumors was made from 1964 to 2004. The tumors summed up 12, being seven schwannomas and five neurofibromas. Schwannomas were composed of spindle-shaped cells either in a palisading pattern or random bundles loosely textured and neurofibromas by spindle cells. The connective tissue components were more prevalent in neurofibromas with a characteristic deployment of collagens type I and III. In AgNOR techniques, both benign and malignant schwannomas and neurofibromas did not show differences. Mast cells stained by toluidine blue were more prevalent in neurofibromas which are rich in reactive endoneurium. Schwannomas (100 percent) and neurofibromas (100 percent) were positive for vimentin and S100 protein, so they prove to be reliable for the diagnosis of peripheral nerve tumors. GFAP marked cells were found in three schwannomas and in Schwann cells within neurofibromas

Neurofibromatosis tipo 1 y tumores raquídeos del contenido / Type 1 neurofibromatosis and spinal tumors of the content

Objetivos: evaluar la prevalencia, pronóstico y posibilidades terapéuticas de los pacientes con Neurofibromatosis tipo 1 (NF 1) y tumores raquídeos. Método: se realizó una revisión retrospectiva de las historias clínicas y estudios disponibles de todos los pacientes con NF1 admitidos a nuestros hospitales entre los años 1993 y 2002. Se evaluó a la admisión y al seguimiento aquellos casos con tumores raquídeos estadificados con el Sistema de Weinstein-Boriani- Bacci, y las escalas Visual Analógica [VAS](para el dolor), de Frankel (status neurológico) de Hoffer y de la OMS, así como el Indice de Karnofsky para el estado funcional. Resultados: se encontraron 12 pacientes (9 varones, 3 mujeres) con NF 1 y tumores raquídeos. La edad promedio al diagnóstico fue de 25.2 años, siendo 9 benignos y 3 malignos (uno con metástasis a distancia). El seguimiento promedio fue de: 2.8 años. Se realizaron 14 procedimientos quirúrgicos de ablación asociados o no a reconstrucción en 11 pacientes. Hubo 11 complicaciones en total (92%) pero solo en 6 pacientes (50%), de los cuales 2 eran portadores de tumores malignos. El 25% con tumores benignos operados presentó una recidiva (promedio: 3.3 años de postoperatorio). Sin embargo, todas las variables funcionales (Frankel, VAS, Hoffer, OMS y Karnofsky) mejoraron. Los dos últimos ítems (OMS, Karnofsky) mostraron mejoría de la calidad de vida, incluso en los casos de óbito Conclusión: 1) La existencia de tumores raquídeos sintomáticos debe tenerse presente en pacientes portadores de NF 1. 2) La agresividad de los tumores benignos sintomáticos en estos pareció mayor a los de la población general. 3) A pesar de las dificultades, la mejoría funcional y de la calidad de vida justificaron el abordaje quirúrgico en estos pacientes.

Objetive: To assess prevalence, prognosis and therapeutic possibilities of patients with type 1 neurofibromatosis (NF-1) and spinal tumors. Method: All patients with NF-1admitted to our Hospital settlings since January 1993 to December 2002 were analized, the clinical records and image studies of those with spinal tumors as a cause of admission were retrospectively reviewed. Karnofsky scale, Functional World Health Organization (WHO) scale, Frankel grade and Visual Analogical Scale (VAS) for pain were used at hospital admission, postoperatively and at follow-up. Surgical staging was reviewed with the Weinstein Boriani Bacci system. Results: In this 10 years period we admitted 44 patients who fully satisfied NIH criteria for NF-1. Twelve of them (27.3%) presented symptomatic spinal tumors: 9 males and 3 females, in average 25.2 years old. Spinal tumors were 9 benign (all neurofibromas) and 3 malign. Mean follow up was 2.8 years. Fourteen surgical procedures were performed in 11 patients. Eleven complications occurred in 6 operated cases (50% of patients), but 2 of 3 (67%) malignant spinal tumors cases had complications. Two of 8 benign tumors operated (25%) recurred an average of 3.3 years after surgery. All cases showed improved postoperative functional score at follow-up (Frankel, VAS, WHO and Karnofsky), including those cases who finally died. Conclusion: 1) Symptomatic spinal tumors should be taken into account in the general population patients with NF-1. 2) Benign tumors in this series were more aggressive than those arising in patients without NF. 3) Postoperative improvement of the functional status and the quality of life, supports the surgical approach among patients with NF-1 and symptomatic spinal tumors, despite the technical difficulties.

A Case of Neurofibromatosis with Multiple Neurofibromas on Mesentery

Neurofibromatosis originally described by von-Recklinhausen in 1882, is often depicted as a chronic progressive hereditary disease characterized by pigmentation of the skin, cutaneus lesions, and numerous tumors developing in association with elements of both the central and peripheral nervous tissue. Mesenteric involvements in neurofibromatosis are very rare in childrens. We experienced a case of neurofibromatosis with multiple neurofibromas on mesentery in 6 years old male who presented with abdominal pain. The diagnosis was confirmed by clinical manifestations, abdominal CT, and histopathologic findings. Brief review of literatures was made.

A Case of Segmental Neurofibromatosis / 대한피부과학회지

A 61-year-old female had neurofibromas situated on the right side of upper trunk, shoulder and neck in the distribution of dermatomes C3 and C4(right), which developed 3 years ago. There were not cafe-au-lait spots, axillary frecklings, or Lisch nodule (iris pignented hamartoma). Biopsy specimen showed collagenous wavy fibrils among which spindle-shaped and round cells were embedded as seen in the typical neurofibroma. This case was considered to be a segmental form of von Recklinghausen's disease.