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Neurofibromatosis type 1 (NF1) is the most common neurocutaneous disease. It is characterized by café-au-lait spots, melanocytic hamartomas of the iris, pseudo-freckles, neurofibromas, and tumor predisposition. The presence of neurofibromas in the thyroid gland is extremely rare. Here we present the case of a 6-year-old male patient with NF1 who consulted at the Department of Endocrinology due to a thyroid tumor and whose ultrasound confirmed a heterogeneous mass at the posterior level of the right lobe. A cervical surgery found the tumor was adhered to the larynx and trachea, with the recurrent laryngeal nerve entering the tumor. Due to the impossibility of dissection, a right hemithyroidectomy was performed and the pathological examination confirmed the presence of plexiform neurofibroma and intrathyroidal neurofibroma. This is the second case reported in childhood and the youngest case to date. Neurofibroma with thyroid involvement should be suspected in patients with cervical mass and NF1, since diagnostic guidance allows avoiding unnecessary studies and guide treatment.

La neurofibromatosis tipo 1 (NF1) es la enfermedad neurocutánea más frecuente, caracterizada por manchas café con leche, hamartomas melanocíticos en iris, pseudoefélides, neurofibromas y predisposición a tumores. La presencia de neurofibromas en la glándula tiroides es extremadamente rara. Se presenta un paciente de sexo masculino de 6 años con NF1 que consultó al Servicio de Endocrinología por tumoración tiroidea, con ecografía que confirmó formación heterogénea a nivel posterior del lóbulo derecho. Se realizó cirugía cervical con tumor adherido a laringe y tráquea, con nervio recurrente que ingresaba al tumor. Por imposibilidad de disección, se realizó hemitiroidectomía derecha, con anatomía patológica confirmatoria de neurofibroma plexiforme y neurofibroma intratiroideo. Este caso es el segundo reportado en la infancia y el de menor edad hasta el momento. Se debe sospechar neurofibroma con compromiso tiroideo en pacientes con masa cervical y NF1, ya que la orientación diagnóstica permite evitar estudios innecesarios y orientar el tratamiento.

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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.

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Abstract We present a case of a 59-year-old patient with chronic low back pain, caused by a retroperitoneal intraneural tumour. Laparoscopic excision was performed and histology revealed a spinal nerve root neurofibroma. Post-operatively, the patient developed partial motor and sensitive deficits due to tumoral nerve entrapment, with progressive recovery with rehabilitation. This report reviews the literature on this sparsely reported condition, highlighting the utility of laparoscopy in its management.

Resumo Apresentamos o caso de uma paciente de 59 anos com lombalgia crônica causada por tumor intraneural retroperitoneal. A excisão laparoscópica foi realizada e a histologia revelou um neurofibroma da raiz do nervo espinhal. No período pós-operatório, a paciente desenvolveu déficits motores e sensitivos parciais devido ao encarceramento do nervo tumoral, com recuperação progressiva à reabilitação. Este relato revisa a literatura sobre essa doença pouco descrita, destacando a utilidade da laparoscopia em seu tratamento.

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SUMMARY OBJECTIVE: The aim of this study was to evaluate the outcome and surgical complications in patients with spinal schwannoma or neurofibroma surgically treated at the Hospital das Clínicas of the State University of Campinas. METHODS: This was a retrospective cohort study, using medical records of patients operated between 2011 and 2021. The sample distribution was verified using the Kolmogorov-Smirnov test. The dynamics between qualitative variables were assessed using Fisher's exact test. We used means analysis to assess patient improvement based on Frankel scores. RESULTS: A total of 16 patients were evaluated, of whom 56.25% (9) were men and 43.75% (7) were women. There were 13 (81.25%) patients with schwannomas and 3 (18.75%) with neurofibromas. Patients with deficits had neurological improvement, such as walking or with at least Frankel D or E after surgery. Laminectomy, performed in 8 patients (50%), and laminoplasty, used in 9 patients (56.25%), were the main techniques. CONCLUSION: The surgical approach was proved to be an effective and safe alternative to the treatment of these tumors, with neurological improvement and minor surgical complications.

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Los neurofibromas laríngeos (NFL) son tumores benignos poco frecuentes de localización principalmente supraglótica. Se manifiestan con síntomas obstructivos de la vía aérea. El tratamiento es la resección completa del tumor mediante abordaje endoscópico; se reserva la cirugía abierta para tumores de gran extensión. Se presenta el caso de un paciente pediátrico con localización atípica de NFL asociado a neurofibromatosis tipo 1 (NF1). Se realizó resección endoscópica del tumor y la anatomía patológica informó neurofibroma plexiforme. Es importante sospechar de esta patología en todo niño con estridor inspiratorio atípico progresivo. Se sugiere seguimiento a largo plazo por la alta probabilidad de recidiva.

Laryngeal neurofibromas (LNFs) are rare benign tumors mainly located in the supraglottis. LNFs occur with airway obstruction symptoms. The treatment is complete resection via an endoscopic technique; the open approach is reserved for large tumors. Here we describe the case of a pediatric patient with LNF of atypical location associated with neurofibromatosis type 1 (NF-1). The tumor was resected with an endoscopic technique, and the pathological study reported a plexiform neurofibroma. It is important to suspect this condition in any child with atypical, progressive inspiratory stridor. Long-term follow-up is recommended due to the high rate of recurrence

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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.

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Los neurofibromas solitarios han sido reportados en la literatura, pero son casos muy raros; por definición se presentan en pacientes que no tienen enfermedad de Von Recklinghausen, que se hereda en forma autosómica dominante, y se presenta con mayor frecuencia en hombres. Es un tumor benigno que puede presentarse solitario o múltiple; su aparición en la cavidad oral suele ser muy rara, pero su sitio de predilección es la lengua, seguido de la mucosa alveolar, paladar y encía gingival. Aparecen con más frecuencia durante la tercera década de vida, aunque se describen casos desde los 10 meses hasta los 70 años de edad. En este reporte se expondrá el caso clínico de un paciente de sexo femenino, de 17 años de edad, que acudió a consulta a la clínica dental centenario por presentar una lesión superior que cubría parte de las coronas anatómicas en piezas dentales del maxilar superior izquierdo, además, en el reporte de estudio inmunoquimicohistológico se diagnosticó neurofibroma, con expresión de S-100. Consideramos de suma importancia el reconocimiento de estos crecimientos intraorales para lograr establecer un diagnóstico definitivo cierto y veraz de la situación (AU)

Solitary neurofibromas have been reported in the literature, but they are very rare cases. By definition they occur in patients who do not have Von Recklinghausen disease, which is inherited in an autosomal dominant manner; It occurs more frequently in men. It is a benign tumor that can appear solitary or multiple. Its appearance in the oral cavity is usually very rare, but its site of preference is the tongue, followed by the alveolar mucosa, palate, and gingival gingiva. They appear more frequently during the third decade of life, although cases from 10 months to 70 years of age are described. This report will present the clinical case of a 17-year-old female patient who came to the Centennial Dental Clinic for consultation presenting an elevated lesion covering part of the anatomical crowns in dental pieces in the left upper jaw and in the report. Neurofibroma was diagnosed from the Immunochemicalhistological study, with S-100 expression. We consider the recognition of these intraoral growths of utmost importance in order to establish a true and truthful definitive diagnosis of the situation (AU)

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BACKGROUND: Pigmented (or melanocytic) neurofibroma (PN) constitutes only 1% of cases and is considered a rare variant of neurofibroma containing melanin-producing cells. In addition, the association of PN with hypertrichosis is infrequent. CASE REPORT: We describe the case of an 8-year-old male with a neurofibromatosis type 1 (NF1) diagnosis, who presented a light brown hyperpigmented plaque, smooth and well-demarcated, and hypertrichosis on the left thigh. The skin biopsy showed characteristics of neurofibroma; however, in the deep portion of the lesion, melanin deposits positive for S100, Melan-A, and HMB45 were observed, thus establishing the diagnosis of pigmented neurofibroma. CONCLUSIONS: Although PN is a rare subtype of neurofibroma, it is considered a chronically progressive benign tumor containing melanin-producing cells. These lesions can appear alone or in association with neurofibromatosis. Since this is a tumor that can be confused with other skin lesions, biopsy analysis is essential to differentiate it from other pigmented skin tumors, such as melanocytic schwannoma, dermatofibrosarcoma protuberans, neurocristic hamartoma, or neuronevus. Surveillance is part of the treatment, and surgical resection is sometimes performed.

INTRODUCCIÓN: El neurofibroma pigmentado (NP) o melanocítico constituye solamente el 1% de los casos y se considera como una variante rara del neurofibroma que contiene células productoras de melanina. Además, la asociación de NP con hipertricosis es muy rara. CASO CLÍNICO: Se describe el caso de un paciente de sexo masculino de 8 años 2 meses de edad con diagnóstico de neurofibromatosis tipo 1 (NF1), quien presentaba en la cara anterior del muslo izquierdo una placa hiperpigmentada de color café claro, bien delimitada y de consistencia suave, e hipertricosis. La biopsia de piel presentó cambios característicos de neurofibroma; sin embargo, en la porción profunda de la lesión se observaron depósitos de melanina positivos para S100, Melan-A y HMB45, con lo que se estableció el diagnóstico de neurofibroma pigmentado. CONCLUSIONES: Aunque el NP es un subtipo raro del neurofibroma, se considera que es un tumor benigno de evolución crónica de células productoras de melanina. Estas lesiones aparecen en solitario o asociadas con neurofibromatosis. Dado que es un tumor que puede confundirse con otras lesiones cutáneas, es fundamental el análisis de la biopsia para diferenciarlo de otros tumores cutáneos pigmentados, como el schwanoma melanocítico, dermatofibrosarcoma protuberans, hamartoma neurocrístico o neuronevus. La vigilancia es parte del tratamiento y, en ocasiones, se lleva a cabo la resección quirúrgica.

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Abstract Background: Pigmented (or melanocytic) neurofibroma (PN) constitutes only 1% of cases and is considered a rare variant of neurofibroma containing melanin-producing cells. In addition, the association of PN with hypertrichosis is infrequent. Case report: We describe the case of an 8-year-old male with a neurofibromatosis type 1 (NF1) diagnosis, who presented a light brown hyperpigmented plaque, smooth and well-demarcated, and hypertrichosis on the left thigh. The skin biopsy showed characteristics of neurofibroma; however, in the deep portion of the lesion, melanin deposits positive for S100, Melan-A, and HMB45 were observed, thus establishing the diagnosis of pigmented neurofibroma. Conclusions: Although PN is a rare subtype of neurofibroma, it is considered a chronically progressive benign tumor containing melanin-producing cells. These lesions can appear alone or in association with neurofibromatosis. Since this is a tumor that can be confused with other skin lesions, biopsy analysis is essential to differentiate it from other pigmented skin tumors, such as melanocytic schwannoma, dermatofibrosarcoma protuberans, neurocristic hamartoma, or neuronevus. Surveillance is part of the treatment, and surgical resection is sometimes performed.

Resumen Introducción: El neurofibroma pigmentado (NP) o melanocítico constituye solamente el 1% de los casos y se considera como una variante rara del neurofibroma que contiene células productoras de melanina. Además, la asociación de NP con hipertricosis es muy rara. Caso clínico: Se describe el caso de un paciente de sexo masculino de 8 años 2 meses de edad con diagnóstico de neurofibromatosis tipo 1 (NF1), quien presentaba en la cara anterior del muslo izquierdo una placa hiperpigmentada de color café claro, bien delimitada y de consistencia suave, e hipertricosis. La biopsia de piel presentó cambios característicos de neurofibroma; sin embargo, en la porción profunda de la lesión se observaron depósitos de melanina positivos para S100, Melan-A y HMB45, con lo que se estableció el diagnóstico de neurofibroma pigmentado. Conclusiones: Aunque el NP es un subtipo raro del neurofibroma, se considera que es un tumor benigno de evolución crónica de células productoras de melanina. Estas lesiones aparecen en solitario o asociadas con neurofibromatosis. Dado que es un tumor que puede confundirse con otras lesiones cutáneas, es fundamental el análisis de la biopsia para diferenciarlo de otros tumores cutáneos pigmentados, como el schwanoma melanocítico, dermatofibrosarcoma protuberans, hamartoma neurocrístico o neuronevus. La vigilancia es parte del tratamiento y, en ocasiones, se lleva a cabo la resección quirúrgica.

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Laryngeal neurofibromas (LNFs) are rare benign tumors mainly located in the supraglottis. LNFs occur with airway obstruction symptoms. The treatment is complete resection via an endoscopic technique; the open approach is reserved for large tumors. Here we describe the case of a pediatric patient with LNF of atypical location associated with neurofibromatosis type 1 (NF-1). The tumor was resected with an endoscopic technique, and the pathological study reported a plexiform neurofibroma. It is important to suspect this condition in any child with atypical, progressive inspiratory stridor. Long-term follow-up is recommended due to the high rate of recurrence.

Los neurofibromas laríngeos (NFL) son tumores benignos poco frecuentes de localización principalmente supraglótica. Se manifiestan con síntomas obstructivos de la vía aérea. El tratamiento es la resección completa del tumor mediante abordaje endoscópico; se reserva la cirugía abierta para tumores de gran extensión. Se presenta el caso de un paciente pediátrico con localización atípica de NFL asociado a neurofibromatosis tipo 1 (NF1). Se realizó resección endoscópica del tumor y la anatomía patológica informó neurofibroma plexiforme. Es importante sospechar de esta patología en todo niño con estridor inspiratorio atípico progresivo. Se sugiere seguimiento a largo plazo por la alta probabilidad de recidiva.

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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.

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Hybrid peripheral nerve sheath tumors show combined features of more than one type of conventional benign peripheral nerve sheath tumors. There are few cases reported of hybrid peripheral nerve sheath tumors in the head and neck region. A 68-year-old female patient was referred for evaluation of an oral swelling lasting five years. Intraoral examination revealed a small mobile nodule located in the lower vestibule. The patient underwent excisional biopsy and microscopic evaluation showed typical features of neurofibroma enclosing areas with palisading nuclei compatible with Antoni A pattern, which are seen in schwannomas. These regions showed strong and diffuse immunoreactivity for S100 protein and moderate positivity in the neurofibroma area. CD34 was positive in the neurofibroma area and entrapped axons were positive for neurofilament. The final diagnosis was oral hybrid neurofibroma-schwannoma tumor. Hybrid peripheral nerve sheath tumors, although extremely rare, may arise within the oral cavity. To the best of our knowledge, this is the first neurofibroma-schwannoma tumor reported in the oral cavity. Recognizing hybrid peripheral nerve sheath tumors as a distinct clinicopathological entity is important because they may also be associated with syndromic disorders.

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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.

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BACKGROUND: Neurofibromatosis 1 (NF1) is a common autosomal dominant syndrome with complete penetrance and highly variable expressivity. The cutaneous neurofibroma (Cnf) and plexiform neurofibroma (Pnf), café-au-lait spots, and freckle-like lesions are common in NF1, but many other manifestations can occur. We aimed to evaluate head circumference, height, weight, body mass index (BMI), head circumference-to-height ratio (HCHR) and waist-hip ratio (WHR) in adult NF1 Brazilian individuals versus a paired control group and investigate their correlation with the presence of clinically visible Pnfs, and number of "skin neurofibromas" (Snf), which include both cutaneous and subcutaneous neurofibromas. METHODS: A case-control study was conducted with 168 individuals, 84 with NF1 and 84 without NF1, paired by sex and age. Head circumference and anthropometric measurements, Snf quantification, evaluation of clinically visible Pnf and familial inheritance were accessed. RESULTS: Prevalence of macrocephaly was significantly higher in NF1 women. Height and weight were significantly lower in both males and females with NF1. HCHR was higher in the NF1 group than in the control group for both sexes. BMI was significantly lower in men with NF1. Waist and hip circumferences were significantly reduced in NF compared with the controls, but the mean WHR was significantly lower only in NF1 women. No correlation was found between the Snf and head circumference and anthropometric measurements, sex or family history. The presence and larger size of clinically visible plexiform neurofibromas were associated with normal stature (p = 0.037 and p = 0.003, respectively). CONCLUSIONS: NF1 individuals have increased prevalence of macrocephaly, short stature, low BMI, and reduced abdominal fat. There is no relation between head circumference and anthropometric data with family history, or neurofibromas.

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OBJECTIVE: To report radiographic characteristics of a case of a patient with neurofibromatosis involving the maxillomandibular complex and to point out other dental radiographic characteristics that are found in the scientific literature to help the dentist when faced with a case of neurofibromatosis. SHORT COMMUNICATION: Male, 31 years old, referred for radiographic examination. During anamnesis and physical examination, lesions were noted, which were papules and café-au-lait patches larger than 1 cm on the trunk and upper limbs, further to Lisch nodules (brown spots on the iris) and axillary and inguinal ephelides. When investigating the history of the disease, the patient reported the presence of such skin atlterations since birth and mentioned that his mother had been diagnosed with neurofibromatosis. During radiographic evaluation, a significant increase in the caliber of the mandibular canal and mental foramen was observed, bilaterally. CONCLUSION: Completing the combination of skin characteristics present in the patient, anamnesis data and current history of the disease with interpretation of radiographic alterations, it was possible to arrive at the diagnostic hypothesis of Neurofibromatosis type 1 and correct clinical management. Therefore, it is extremely important for the dentist to be aware of the clinical, physical and radiographic characteristics that this condition presents for the correct management and success of dental treatment.

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Resumen El neurofibroma laríngeo es poco frecuente, representa menos del 0,1% de las neoplasias benignas de la laringe. Puede presentarse aislado, o más comúnmente asociado a neurofibromatosis tipo I. Se presenta el caso de un paciente varón de 40 años, ya diagnosticado de neurofibromatosis tipo I, que presenta masa supraglótica submucosa asintomática, diagnosticada como hallazgo casual en una intubación por una cirugía previa programada.

Abstract Laryngeal neurofibroma is rare, representing less than 0.1% of benign tumors of the larynx. It can occur in isolation or more commonly associated with type I neurofibromatosis. The case of a 40-year-old male patient, already diagnosed with type I neurofibromatosis, is presented with an asymptomatic submucosal supraglottic mass, diagnosed as a chance finding in intubation due to a previous scheduled surgery.

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BACKGROUND: Neurofibromatosis type 1 (NF1) is a chronic and progressive autosomal dominant genetic and sporadic disease characterized by cutaneous and neurological abnormalities. Plexiform neurofibroma (PN), a significant cause of clinical complications in NF-1, is a benign tumor of the peripheral nerve sheath that involves multiple nerve fascicles. Although there is an important number of patients who are affected by NF1 in Brazil, there is little data on the behavior of the disease in the national literature as well as in other low- and middle-income countries. METHODS: We performed a retrospective analysis of 491 patients with NF1 followed at two reference centers in Brazil. RESULTS: Approximately 38% of patients had PNs, resulting in reduced life quality. The median patient age with PNs was 30 years (range: 6 to 83 years). Head and neck, and extremity were the main affected locations with 35.8 and 30.6%, respectively. PNs were classified as asymptomatic in 25.1% of patients, while 52.5% presented symptomatic and inoperable tumors. The most common manifestations related to PNs were disfigurement and orthopedic involvement. Twenty patients developed neoplasms and ten (50%) presented with malignant peripheral nerve sheath tumors (MPNST). The prevalence of MPNST in our study was 2.9%. CONCLUSIONS: Patients with NF1 experience clinically significant morbidity, especially when it is associated with PN. Though there are many patients affected by NF1 in Brazil and other low- and middle-income countries, there is little data available in the corresponding literature. Our results are comparable to the previous results reported from higher-income countries and international registries.

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Introdução: O neurinoma plexiforme gigante é um neuroectoderma e uma doença hereditária. É um tumor cutâneo incomum associado à NF1, caracterizado como um tumor benigno da bainha do nervo periférico envolvendo múltiplos fascículos nervosos. Os objetivos da reconstrução da cobertura do antebraço são proteger as estruturas que vão até o punho e a mão e evitar cicatrizes que levem à perda de movimento. Tanto o antebraço quanto a mão desempenham papéis funcionais e sociais. O manejo bem-sucedido de feridas complexas é necessário para a reabilitação funcional geral desses pacientes. Relato do Caso: Paciente do sexo feminino, 31 anos, apresentou-se na divisão de cirurgia plástica com neurofibroma plexiforme gigante no antebraço direito. Após ressecção cuidadosa, todos os tendões anteriores do antebraço foram expostos. O defeito foi coberto com Pelnac T enxertável (espessura de 3mm e tamanho 12 X 24cm2), fixados com pontos monocryl 4-0. Após 10 dias, a matriz dérmica acelular foi removida e um enxerto de malha de pele de espessura parcial foi colocado. No dia 7, a matriz dérmica acelular apresentou bons sinais de ingestão. No dia 17, observamos uma sobrevida do enxerto de 95%. No seguimento de 3 meses, a reconstrução estava estável, sem defeitos de contorno, a mão apresentava amplitude de movimento completa e o paciente não apresentava problemas nas atividades diárias. Conclusões: A matriz dérmica acelular parece ser uma opção útil na cobertura de defeitos complexos no antebraço, permitindo menor morbidade e rápida recuperação funcional.

Introduction: Giant plexiform neurinoma is a neuroectoderm and inherited disease. It is an uncommon skin tumor associated with NF1, characterized as a benign peripheral nerve sheath tumor surrounding multiple nervous fascicles. The goals of forearm coverage reconstruction are to protect the structures running to the wrist and hand and prevent scarring that leads to movement loss. Both forearm and hand play functional and social roles. Successful management of complex wounds is necessary for the overall functional rehabilitation of these patients. Case Report: A 31-year-old woman presented at the plastic surgery division with a giant plexiform neurofibroma in the right forearm. After careful resection, all anterior forearm tendons were exposed. The defect was covered with graftable Pelnac T (thickness of 3mm and sizing 12 X 24cm2), fixed with 4-0 monocryl sutures. After 10 days, the acellular dermal matrix silicone layer was removed, and a split-thickness skin meshed graft was placed. On day 7, the acellular dermal matrix showed good signs of intake. On day 17, we observed a 95% graft survival. At the 3-month follow-up, reconstruction was stable without contouring defects, the hand had full range of motion, and the patient had no problems in daily activities. Conclusions: Acellular dermal matrix appears to be a useful option in covering complex defects in the forearm, allowing for less morbidity and rapid functional recovery.

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Mucosal Schwann cell hamartoma (MSCH) is a rare benign neurogenic tumor characterized by pure S100p positive spindle cell proliferation. Most cases occur in the distal colon. Involvement of the gall bladder is exceedingly rare. There have been no reports of recurrence or a syndromic association with MSCH. Herein, we describe a case of MSCH of the gallbladder in a 55-year-old female patient with prior history of gastrointestinal neurofibromas who presented with abdominal pain. MR imaging revealed choledocholithiasis, gallbladder thickening, and marked biliary and pancreatic ductal dilation. The patient subsequently underwent cholecystectomy with choledochoduodenostomy. Histologic evaluation of the gallbladder showed diffuse expansion of the mucosa with S100p positive cells with spindly nuclei and indistinct cytoplasmic borders and diagnosis of MSCH of the gallbladder was rendered.