RESUMO
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
Assuntos
Humanos , Masculino , Lactente , Neurofibromatose 1/complicações , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/patologia , Neurofibroma Plexiforme/cirurgia , Neurofibroma Plexiforme/complicações , Neurofibroma Plexiforme/diagnóstico , Laringe/patologia , Sons Respiratórios/etiologia , EndoscopiaRESUMO
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.
Assuntos
Laringe , Neurofibroma Plexiforme , Neurofibromatose 1 , Humanos , Criança , Neurofibromatose 1/complicações , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/patologia , Neurofibroma Plexiforme/diagnóstico , Neurofibroma Plexiforme/cirurgia , Neurofibroma Plexiforme/complicações , Laringe/patologia , Endoscopia , Sons Respiratórios/etiologiaRESUMO
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.
Assuntos
Neurofibroma Plexiforme , Neurofibromatose 1 , Ritidoplastia , Malformações Vasculares , Humanos , Feminino , Pessoa de Meia-Idade , Neurofibromatose 1/complicações , Neurofibromatose 1/cirurgia , Neurofibromatose 1/patologia , Neurofibroma Plexiforme/complicações , Neurofibroma Plexiforme/cirurgia , Neurofibroma Plexiforme/patologia , Malformações Vasculares/cirurgia , Malformações Vasculares/complicações , Cuidados Pré-OperatóriosRESUMO
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.
Assuntos
Neurofibroma Plexiforme , Neurofibromatose 1 , Neurofibrossarcoma , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Brasil/epidemiologia , Criança , Humanos , Pessoa de Meia-Idade , Neurofibroma Plexiforme/complicações , Neurofibroma Plexiforme/genética , Neurofibromatose 1/complicações , Neurofibromatose 1/epidemiologia , Neurofibromatose 1/genética , Neurofibrossarcoma/complicações , Estudos Retrospectivos , Adulto JovemRESUMO
Se presenta el caso de una paciente de 36 años de edad con antecedente patológico de enfermedad de Von Reklinghausen, quien fue asistida en el Servicio de Cirugía General del Centro Hospitalario de Kossodô en Burkina Faso por presentar un tumor gigante en la región posterior del muslo derecho. Los exámenes complementarios confirmaron el presunto diagnóstico de neurofibroma plexiforme gigante del nervio ciático. Durante el procedimiento quirúrgico se extirpó un tumor infrecuente cuyo peso excedió los 22,5 kg. Con el tratamiento rehabilitador posoperatorio del miembro operado la paciente evolucionó satisfactoriamente y se le dio el alta hospitalaria 7 días después.
The case report of a 36 years patient with pathological history of Von Reklinghausen disease is presented. She was assisted in the General Surgery Service of the Hospital Center from Kossodô in Burkina Faso presenting a giant tumor in the back region of the right thigh. The complementary exams confirmed the presumed diagnosis of giant plexiform neurofibroma of the sciatic nerve. During the surgical procedure an uncommon tumor was removed which weight exceeded the 22.5 kg. With the postoperative rehabilitative treatment of the operated member the patient had a favorable clinical course and she was discharged from the hospital 7 days later.
Assuntos
Neurofibroma Plexiforme/cirurgia , Neurofibroma Plexiforme/diagnóstico , Neurofibroma Plexiforme/reabilitação , Nervo Isquiático , NeurofibromatosesRESUMO
INTRODUCTION: Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant genetic disorders. Some clinical manifestations are present at birth, while some develop during childhood, and others can occur at any age. Given the early age at which patients develop clinical features, diagnosis is often made during childhood. The most prevalent features of NF1 are café au lait spots, dermal and plexiform neurofibromas, and learning disability. A variety of skeletal problems may be seen in NF1, including scoliosis, short stature, and pseudoarthrosis. Reduced skeletal bone mass has been documented to be a common phenomenon in children and adults with NF1. Decreased serum 25-hydroxyvitamin D (vitamin D) levels have been noted in adults and children with NF1 and have been reported to be inversely correlated with the number of dermal neurofibromas in adults. However, the actual correlation of vitamin D level to bone density and dermal neurofibroma number in children with NF1 remains unclear. OBJECTIVES: The primary objective of this study was to evaluate vitamin D levels among children and adolescents with NF1. The secondary objective was to describe the levels of vitamin D among children and adolescents with NF1, to verify in which age group there is a higher frequency of vitamin D alterations, and to explore vitamin D level correlations between age, gender, sun exposure, number of neurofibromas, and number of plexiform neurofibromas. METHODS: This was an observational, cross-sectional, hospital-based study. We obtained a convenience sample of individuals with confirmed diagnosis of NF1 from patients attending the Medical Genetics Service of the IPPMG-UFRJ and Santa Casa de Misericórdia of Rio de Janeiro over a 24-month period. We evaluated vitamin D levels in blood samples of patients with NF1 by a chemiluminescent immunoassay method, and we correlated the results with gender, age, number of neurofibromas, number of plexiform neurofibromas, and satisfactory sun exposure. RESULTS: Of the 55 patients, 28 (50.9%) were female and 27 (49.1%) were male. Patient ages ranged from a minimum of 1.2 to a maximum of 19.6 years (mean age 10.95 years) and the median was 11.11 years. Median and mean body mass index (BMI; z score) were -0.09 (minimum value -1.63 and maximum of 4.62) and 0.16, respectively. The mean value of vitamin D was 30.82 ng/mL (±12.31) and the median was 29 ng/mL (minimum value of 10.40 ng/mL and maximum of 79.19 ng/mL). CONCLUSIONS: The levels of vitamin D did not differ according to gender, age group, or the presence or number of cutaneous neurofibromas. Among patients with adequate sun exposure, there was a higher incidence of sufficient serum vitamin D levels. Patients with cutaneous neurofibromas in the 0 to 11 age group had a greater tendency to vitamin D sufficiency in relation to patients aged 11 to 19 years.
RESUMO
La neurofibromatosis (NF) comprende un grupo de enfermedades genéticas de herencia autosómica dominante, que se clasifican de la siguiente manera: neurofibromatosis tipo 1 (NF1), neurofibromatosis tipo 2 (NF2) y schwannomatosis (también conocida como neurofibromatosis tipo 3). Esta última es una enfermedad muy infrecuente, con una prevalencia aproximada de 1/126 000 personas, por lo que solo profundizaremos las dos primeras. La NF1, también conocida como la enfermedad de Von Recklinghausen, es la más frecuente de las tres y afecta principalmente la piel y el sistema nervioso periférico. Se caracteriza por la presencia de máculas "café con leche", pecas axilares o inguinales, nódulos de Lisch (hamartomas en el iris) y neurofibromas (tumores de la vaina de nervios periféricos). Otras manifestaciones menos frecuentes, aunque de mayor gravedad, incluyen gliomas del nervio óptico, meningiomas, neurofibromas malignos, escoliosis y displasia de la tibia. Su diagnóstico se suele realizar al nacimiento o durante los primeros años de vida, y se estima que un 50% de quienes la padecen presenta dificultades cognitivas. No hay datos concluyentes sobre la mortalidad en los pacientes con NF1, aunque se sabe que la expectativa de vida es menor que en la población general. La NF2 tiene una prevalencia considerablemente menor que la NF1 y su inicio es más tardío, afectando principalmente a adultos jóvenes. La presentación clínica típica se caracteriza por acúfenos, hipoacusia y ataxia en contexto de la presencia de schwannomas vestibulares bilaterales. Otros hallazgos menos frecuentes incluyen schwannomas de nervios periféricos, meningiomas, ependimomas o astrocitomas. La esperanza de vida es de unos 36 años, con una supervivencia media desde el momento del diagnóstico de 15 años. (AU)
Neurofibromatosis (NF) includes a group of genetic diseases with an autosomal-dominant inheritance pattern, and they are classified as follows: Neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and Schwannomatosis (also known as neurofibromatosis type 3). This last one is a very rare disease, with an approximate prevalence of 1/126000, so we will only deepen in the first two. NF1, also known as von Recklinghausen disease, is the most frequent, and mainly affects the skin and peripheral nervous system. Its typical manifestations are the presence of café-au-lait macules, axillary or inguinal freckles, Lisch nodules (hamartomas in the iris) and neurofibromas (peripheral nerve sheath tumors). Less frequent manifestations, although more serious, include optic nerve gliomas, meningiomas, malignant neurofibromas, scoliosis and tibial dysplasia. The diagnosis is usually made at birth or during the first years of life, and approximately 50% of patients present cognitive difficulties. There is no conclusive data on mortality in patients with NF1, although it is known that life expectancy is lower than in general population. NF2 has a considerably lower prevalence than NF1, and its onset is later in life, mainly affecting young adults. Its typical clinical presentation is characterized by tinnitus, hearing loss and ataxia in the context in the presence of bilateral vestibular schwannomas. Less frequent findings include peripheral nerve schwannomas, meningiomas, ependymomas or astrocytomas. Life expectancy is about 36 years old, with a median survival from the moment of diagnosis of 15 years. (AU)
Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Lactente , Adulto , Adulto Jovem , Neurofibromatose 2/etiologia , Neurofibromatose 1/etiologia , Neurofibromatoses/classificação , Astrocitoma/fisiopatologia , Ataxia , Escoliose/fisiopatologia , Tíbia/anormalidades , Zumbido , Doenças do Desenvolvimento Ósseo/fisiopatologia , Neuroma Acústico/complicações , Expectativa de Vida , Neurofibromatose 2/epidemiologia , Neurofibromatose 1/fisiopatologia , Neurofibromatose 1/mortalidade , Neurofibromatose 1/epidemiologia , Neurofibromatoses/diagnóstico , Glioma do Nervo Óptico/fisiopatologia , Ependimoma/fisiopatologia , Perda Auditiva , Doenças da Íris/fisiopatologia , Melanose/fisiopatologia , Meningioma/fisiopatologia , Neurilemoma/etiologia , Neurilemoma/fisiopatologia , Neurofibroma/fisiopatologia , Neurofibroma/patologiaRESUMO
Introduction Laryngeal neurofibromas are extremely rare, accounting for only 0.03 to 0.1% of benign tumors of the larynx. Objectives To report the first case of massive neck plexiform neurofibroma with intralaryngeal (supraglottic) extension in a 5-year-old boy with neurofibromatosis type 1 and to describe its treatment. Resumed Report This massive plexiform neurofibroma was surgically removed, relieving its significant respiratory obstructive symptoms without recurrence to date. Conclusion Massive neck plexiform neurofibroma with supraglottic part was found in a child with neurofibromatosis type 1; it should be included in differential diagnosis of stridor and neck mass in children. It was diagnosed and removed in early in childhood without recurrence.(AU)
Assuntos
Humanos , Pré-Escolar , Diagnóstico Diferencial , Neurofibroma Plexiforme/diagnóstico , Neurofibromatose 1/genética , Diagnóstico por Imagem , Laringoscopia , Imageamento por Ressonância MagnéticaRESUMO
Introduction Laryngeal neurofibromas are extremely rare, accounting for only 0.03 to 0.1% of benign tumors of the larynx. Objectives To report the first case of massive neck plexiform neurofibroma with intralaryngeal (supraglottic) extension in a 5-year-old boy with neurofibromatosis type 1 and to describe its treatment. Resumed Report This massive plexiform neurofibroma was surgically removed, relieving its significant respiratory obstructive symptoms without recurrence to date. Conclusion Massive neck plexiform neurofibroma with supraglottic part was found in a child with neurofibromatosis type 1; it should be included in differential diagnosis of stridor and neck mass in children. It was diagnosed and removed in early in childhood without recurrence.
RESUMO
Neurofibromatosis type 1 (NF1) is a common autosomal genetic disorder with a prevalence of 1 in 3,000 births. NF1 is a complex syndrome characterized by many abnormalities and may affect all organ systems. Oral manifestations of NF1 occur frequently, but reports including NF1 children with facial plexiform neurofibromas and oral alterations are scant. Facial plexiform neurofibroma may cause asymmetry, disfigurement and usually arises from the trigeminal nerve. The aim of this paper is to to report three pediatric NF1 cases with facial plexiform neurofibroma presenting with oral manifestations, which were evaluated clinically and radiographically, and also to briefly review the literature. Patients presented with changes in the oral soft tissues, jaws, and teeth ipsilateral to the tumor.
Assuntos
Deformidades Dentofaciais/diagnóstico , Neoplasias Faciais/diagnóstico , Neurofibroma Plexiforme/diagnóstico , Neurofibromatose 1/diagnóstico , Criança , Feminino , Neoplasias Gengivais/diagnóstico , Crescimento Excessivo da Gengiva/diagnóstico , Humanos , Macroglossia/diagnóstico , Masculino , Má Oclusão/diagnóstico , Mandíbula/anormalidades , Côndilo Mandibular/anormalidades , Neoplasias da Língua/diagnósticoRESUMO
Descrição de caso de neurofibroma plexiforme localizado na região pélvica comprometendo bexiga, próstata e coluna lombossacra, com evolução de três anos e seis meses. Diante de contraindicação de remoção cirúrgica, foi realizado acompanhamento clínico e radiológico semestral, sem constatação de crescimento tumoral. Na neurofibromatose tipo 1, as manifestações clínicas são diversas e a equipe médica deve estar atenta à investigação complementar e pode ser surpreendida por um achado raro. As massas pélvicas volumosas podem, eventualmente, corresponder a neurofibromas plexiformes, sendo útil a investigação de neurofibromatose caso o paciente ainda não tenha esse diagnóstico.
The authors report the case of a plexiform neurofibroma located in the pelvis, affecting the bladder, prostate and spine (lumbar/sacral), followed-up for three years and six months. Surgical removal was contraindicated and the patient underwent biannual clinical and radiological follow-up that did not demonstrate any tumor increase. The clinical manifestations of neurofibromatosis type 1 are variable, and the medical team should be attentive to further investigations, considering possible unexpected rare findings. Large pelvic masses may correspond to plexiform neurofibromas, so the diagnostic hypothesis of neurofibromatosis should be taken into consideration.
RESUMO
The authors report the case of a plexiform neurofibroma located in the pelvis, affecting the bladder, prostate and spine (lumbar/sacral), followed-up for three years and six months. Surgical removal was contraindicated and the patient underwent biannual clinical and radiological follow-up that did not demonstrate any tumor increase. The clinical manifestations of neurofibromatosis type 1 are variable, and the medical team should be attentive to further investigations, considering possible unexpected rare findings. Large pelvic masses may correspond to plexiform neurofibromas, so the diagnostic hypothesis of neurofibromatosis should be taken into consideration.
Descrição de caso de neurofibroma plexiforme localizado na região pélvica comprometendo bexiga, próstata e coluna lombossacra, com evolução de três anos e seis meses. Diante de contraindicação de remoção cirúrgica, foi realizado acompanhamento clínico e radiológico semestral, sem constatação de crescimento tumoral. Na neurofibromatose tipo 1, as manifestações clínicas são diversas e a equipe médica deve estar atenta à investigação complementar e pode ser surpreendida por um achado raro. As massas pélvicas volumosas podem, eventualmente, corresponder a neurofibromas plexiformes, sendo útil a investigação de neurofibromatose caso o paciente ainda não tenha esse diagnóstico.
RESUMO
A Neurofibromatose Tipo I (NF-1) ou doença de Von Recklinghausen é uma doença genética autossômica dominante com uma incidência de 1 em 2600-3000 indivíduos. As características mais típicas são as manchas café com leite e os neurofibromas da pele. Outros sistemas também podem ser afetados, incluindo o aparelho cardiovascular, olhos, ossos e o trato gastrointestinal. O envolvimento gastrointestinal tem sido documentado em 25% dos pacientes com NF-1, principalmente o estômago e o intestino delgado. O envolvimento do esôfago e do cólon é raro. Nosso objetivo é relatar um caso raro de neurofibroma plexiforme do cólon, em paciente com NF-1 até então não diagnosticada.
The Neurofibromatosis type I (NF-1) or Von Recklinghausens disease is an autosomal dominant disorder with an incidence of 1 in 2600-3000 individuals. The most characteristic features are the stains coffee with milk and skin neurofibromas. Other systems may also be affected, including the cardiovascular system, eyes, bone and gastrointestinal tract. The gastrointestinal involvement has been documented in 25% of patients with NF-1, primarily the stomach and small intestine. The involvement of the esophagus and the colon is rare. Our goal is to report a rare case of plexiform neurofibroma of the colon in a patient with NF-1 hitherto undiagnosed.
Assuntos
Humanos , Masculino , Adulto , Ceco , Neurofibromatose 1 , Neurofibroma Plexiforme , Colo , Neoplasias AbdominaisRESUMO
El neurofibroma plexiforme es un tumor complejo, que involucra varios tejidos. Llevan a una distorsión masiva del lugar donde se encuentran, originando problemas estéticos y médicos. Con este trabajo se pretende conocer la frecuencia de los neurofibromas plexiformes, en los pacientes con neurofibromatosis tipo 1, la localización, sexo y otras características clínico-genéticas y diseñar un protocolo de diagnóstico y tratamiento de los neurofibromas plexiformes en la provincia. Se realizó un estudio descriptivo, transversal a pacientes, con neurofibroma plexiforme. Del total de pacientes, 34 presentaron neurofibroma plexiforme, predominando el sexo femenino. La mayoría de los neurofibromas plexiformes se localizaron en extremidades, tronco y cráneo-cara. La hiperpigmentación y la hipertricosis resultaron los signos clínicos más frecuentes. Se diseñó un protocolo para el diagnóstico y tratamiento de los afectados.
Plexiform neurofibroma is a complex tumor involving several tissues, this tumor provokes a massive distortion of the region where it is located leading to esthetical and medical problems. This work was aimed at knowing the frequency of plexiform neurofibromas in patients suffering from Type-1 neurofibromatosis, location, prevalence of sex and other clinical-genetic characteristics to design a protocol of diagnosis and treatment of plexiform neurofibromas in Pinar del Rio province. A descriptive, cross-sectional study was carried out in patients suffering from plexiform neurofibroma. Out of the total of patients, 34 presented plexiform neurofibroma, female sex prevailed. The majority of plexiform neurofibromas were located in limbs, torso and skull-face. The hyperpigmentation and the hypertrichosis were the most frequent clinical signs. A protocol was designed to accomplish the diagnosis and treatment of the patients affected.
RESUMO
A neurofibromatose tipo 1 (NF1) é a forma mais comum das facomatoses autossômicas dominantes, com uma incidência de 1 em 2.500 a 1 em 3.000 ao nascimento. Clinicamente, a NF1 é caracterizada por manchas café com leite, efélides, neurofibroma da pele, neurofibroma plexiforme, defeitos ósseos, nódulos de Lisch e tumores do sistema nervoso central. O neurofibroma plexiforme, um raro tumor exclusivo de pacientes com NF1, é um tumor benigno da bainha dos nervos periféricos que se espalha sob a pele ou profundamente no corpo. O diagnóstico diferencial da NF1 inclui outras formas de neurofibromatose, afecções com manchas café com leite ou com alterações pigmentares confundidas com manchas café com leite. Uma mulher de 28 anos foi admitida no Hospital Universitário de Santa Maria, apresentando uma massa com grande aumento em seu braço direito com 24 anos de evolução. O aumento se desenvolveu em uma mancha café com leite que estava presente desde o nascimento. Não havia história familiar de neurofibromatose. Foi realizado diagnóstico clínico de NF1 com neurofibroma plexiforme do braço direito
Neurofibromatosis type 1 (NF1) is the most common form of autosomal dominant phakomatoses with an incidence of 1 in 2,500 to 1 in 3,000 at birth. Clinically, NF1 is characterized by café au lait spots, ephelides, skin neurofibroma, plexiform neurofibroma, bone defects, Lisch nodules, and tumors of the central nervous system. Plexiform neurofibroma, a rare tumor unique to patients with NF1, is a benign tumor of peripheral nerve sheath that spreads under the skin or deep in the body. The differential diagnosis of NF1 includes other forms of neurofibromatosis, conditions with café au lait spots or pigment changes confused with café au lait spots. A 28-year-old woman was admitted to the University Hospital of Santa Maria with a largely increased mass in her right arm with 24 years of evolution. The increase developed from a cafe au lait spot that was present since birth. There was no family history of neurofibromatosis. Clinical diagnosis of NF1 with plexiform neurofibroma of the right arm was made
Assuntos
Humanos , Feminino , Adulto , Neurofibroma Plexiforme/diagnóstico , Neurofibroma Plexiforme/patologiaRESUMO
Fundamento: A neurofibromatose é uma doença genética autossômica dominante e tem sido observada em diferentes partes do mundo, em todas as raças, com correlação idêntica entre homens e mulheres. Trata-se de uma doença crônica e progressiva.Objetivos: Descrever o perfil epidemiológico de pacientes com diagnóstico de neurofibromatose tipo 1, atendidos em um hospital de referência do Estado do Rio de Janeiro, segundo variáveis de interesse social, demográfico e clínico.Métodos: Neste trabalho foram analisados os pacientes do Ambulatório de Neurofibromatose no ano de 2003. Foram avaliadas algumas variáveis como: primeira consulta e retorno, casos confirmados e suspeitos, sexo, idade média atual dos pacientes, idade média no diagnóstico, Estado de origem, herança, encaminhamento dos pacientes, número de manchas café com leite entre 0,5 e 1,5 cm, número de manchas café com leite acima de 1,5 cm, localização das efélides, tipo de neurofibromas, localização dos neurofibromas plexiformes, alterações causadas pela neurofibromatose.Resultados: No ano de 2003 foram atendidos 62 pacientes. Destes, 53 (85%) foram primeira consulta e 9 (15%) foram retorno. O diagnóstico de neurofibromatose tipo 1 foi confirmado na primeira consulta em 50 pacientes (94%), sendo 30 (60%) do sexo feminino e 20 (40%) do masculino. A idade média foi de aproximadamente 14 anos de idade, com desvio padrão igual a 11,15.Observou-se que 41 (82%) dos pacientes atendidos eram provenientes do próprio Estado do Rio de Janeiro, seguido de Minas Gerais com 4 (8%) e Rio Grande do Sul com 2 (4%). Dos Estados de Goiás, Pernambuco e Bahia veio apenas um paciente cada. Em 23 pacientes (46%) a neurofibromatose se apresentou com herança familiar e em 27 pacientes não foi relatado familiar afetado. A maioria dos pacientes vieram encaminhados por seus médicos. Manchas café com leite entre 0,5 e 1,5 cm foram observadas em 47 pacientes (94%). Número de manchas café com leite maior que 1,5 cm pôde ser encontrada em 42 pacientes (84%).As efélides foram encontradas na região axilar unilateralmente em 3 pacientes (6%), bilateralmente em 37 (74%) e em outras dobras em 17 pacientes (34%).Neurofibromas subcutâneos estavam presentes em 33 pacientes (66%), neurofibromas cutâneos em 39 (78%) e neurofibromas plexiformes em 15 (30%). Alteração cosmética relacionada à neurofibromatose foi a queixa de 19 pacientes (38%).Conclusões: Através deste trabalho e outros foi possível obter informações importantes como a incidência das manifestações clínicas da neurofibromatose e sua história natural, possibilitando um melhor atendimento aos pacientes e melhores condições para pesquisas de novas terapias.
RESUMO
La Neurofibromatosis fue descrita por Von Recklinghausen en 1882. Es una genodermatosis autosómica dominante con alta penetrancia, expresividad variable y curso progresivo; se calcula que en el 50% de los casos se deben a mutaciones espontáneas (de novo), con una incidencia de 1/3000 recién nacidos. Clínicamente se manifiesta por el compromiso de los tejidos derivados del neuroectodermo y mesodermo. Muestra alteraciones oculares, neurológicas, de partes blandas, cutáneas, óseas, endocrinológicas y lesiones viscerales. En la actualidad se admiten dos formas clínicas principales: la Neurofibromatosis clásica o de tipo I que representa el 85-90 % de los casos y la Neurofibromatosis tipo II (Neurofibromatosis del acústico bilateral) muy poco frecuente.
The Neurofibromatosis was described by von Recklinghausen in 1882. It is a dominant autosomic genodermatosis with a high penetration, variable clinic and progressive course; it is calculate, that in 50% of the cases the origin is a spontaneous mutations (novo). The incidence is 1/3000 newly born. The clinical manifestations are: the compromise of tissues derived from neuroectoderm and mesoderm. It also has ocular symptoms, visceral injuries, neurological alterations and endocrinological pathologies. Soft pars, cutaneous tissue and bones are affected. At the present time two main clinical forms are admitted: the Classic Neurofibromatosis or type I, that represents 85-90% of the cases and the Neurofibromatosis type II (Neurofibromatosis of the bilateral hearing aid) that it ´s not so frequent.
RESUMO
La neurofibromatosis es una enfermedad genética autosómica dominante y de alta penetrancia que pertenece al grupo de los síndromes neurocutáneos. Se sabe de diversas variedades de neurofibromatosis; sin embargo, las más conocidas son la neurofibromatosis tipo 1 (enfermedad de von Recklinghausen) y neurofibromatosis tipo 2 (neurofibromatosis del nervio acústico bilateral). Se presenta el caso clínico de un paciente de 43 años, sexo femenino, sin antecedentes familiares de importancia, quien presentó aumento de volumen de punta nasal, de lenta progresión, asociado a obstrucción nasal y anosmia significativa. Al examen físico destacaban múltiples manchas de color 'café con leche' y nodulos de diferentes tamaños distribuidos en tórax. El estudio imagenológico con tomografía computarizada de cavidades paranasales mostró un nodulo de partes blandas en la porción cartilaginosa del tabique nasal. Se le realizó una rinoplastía abierta con extirpación total del tumor, con diagnóstico histopatológico compatible de neurofibroma plexiforme de punta nasal. Se analiza el caso del neurofibroma plexiforme de punta nasal, debido a la ubicación infrecuente de éste, y se efectúa una breve revisión bibliográfica del tema.
Neurofibromatosis is a genetic, autosomal dominant disease with high penetrance that belongs to the neurocutaneous syndrome group. There are several varieties of neurofibromatosis, of which the best known are neurofibromatosis type 1 (von Recklinghausen disease) and neurofibromatosis type 2 (schwannoma of the bilateral acoustic nerve). We present a case report of a 43 years old female patient, with no relevant family medical history, whose nasal tip size slowly enlarged, in association with considerable nasal obstruction and anosmia. The physical examination highlighted multiple brown, coffee and milk colored spots and nodules of different sizes distributed in the chest and the back. The imaging study of paranasal cavities with computerized tomography showed a son tissue nodule in the cartilaginous portion of the nasal septum. A total tumor resection and open rhinoplasty were performed. The histopatological diagnosis was plexiform neurofibroma of the nasal tip. We present the case given the unusual location of it and make a brief literature review of the topic.
Assuntos
Humanos , Feminino , Adulto , Neoplasias Nasais/cirurgia , Neoplasias Nasais/patologia , Neurofibroma Plexiforme/cirurgia , Neurofibroma Plexiforme/patologia , Neurofibromatose 1/cirurgia , Neurofibromatose 1/patologia , Cavidade Nasal , Obstrução Nasal/etiologia , Resultado do Tratamento , Tomografia Computadorizada por Raios XRESUMO
Neurofibromatosis type 1 (NF1) or von Recklinghausen disease is a genetic disorder affecting the growth of cells in nervous system. One of the most remarkable characteristics of this disease is the development of benign tumors of the nervous system (neurofibromas).The purpose of this study was to test tissue samples taken from neurofibromas and plexiform neurofibromas of NF1 patients for the presence of estrogen and progesterone receptors. We used previously collected samples from patients registered in the database of the Centro Nacional de Neurofibromatose (CNNF-Brazil). Samples from twenty-five patients in the database presenting plexiform neurofibromas (N1 group) and 25 samples from the same database from patients presenting neurofibromas (N2 group) were tested.We observed positive staining for progesterone receptors in 13 of the neurofibroma samples and 19 of the plexiform neurofibroma samples. Among the neurofibroma samples, we observed one sample with positive estrogen receptor staining, but none of the plexiform neurofibroma samples showed positive staining. We suggest further studies to investigate in greater depth possible hormonal influences on the development and growth of neurofibromas and plexiform neurofibromas in NF1.