Syndrome in question

Abstract Neurofibromatosis is extremely variable in its presentation. Segmental neurofibromatosis (SNF), which corresponds to NF-type 5 in the Riccardi classification, is a rare disorder. It may go unrecognized if few lesions are observed. We present a case of segmental neurofibromatosis in a 28 year-old patient who presented with multiple papules and nodules distributed in dermatomal fashion on the trunk. The histopathological examination of the lesions revealed a non-encapsulated, well-circumscribed spindle cell neoplasm, which was consistent with neurofibromas.

Neurofibromatosis: part 2 – clinical management / Neurofibromatoses: parte 2 – manejo clínico

Part 1 of this guideline addressed the differential diagnosis of the neurofibromatoses (NF): neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH). NF shares some features such as the genetic origin of the neural tumors and cutaneous manifestations, and affects nearly 80 thousand Brazilians. Increasing scientific knowledge on NF has allowed better clinical management and reduced rate of complications and morbidity, resulting in higher quality of life for NF patients. Most medical doctors are able to perform NF diagnosis, but the wide range of clinical manifestations and the inability to predict the onset or severity of new features, consequences, or complications make NF management a real clinical challenge, requiring the support of different specialists for proper treatment and genetic counseling, especially in NF2 and SCH. The present text suggests guidelines for the clinical management of NF, with emphasis on NF1.

A primeira parte desta diretriz abordou o diagnóstico diferencial das neurofibromatoses (NF): neurofibromatose do tipo 1 (NF1), neurofibromatose do tipo 2 (NF2) e schwannomatose (SCH). As NF compartilham algumas características, como a origem neural dos tumores e sinais cutâneos, e afetam cerca de 80 mil brasileiros. O aumento do conhecimento científico sobre as NF tem permitido melhor manejo clínico e redução da morbidade das complicações, resultando em melhor qualidade de vida para os pacientes com NF. A maioria dos médicos é capaz de realizar o diagnóstico das NF, mas a variedade de manifestações clínicas e a dificuldade de se prever o surgimento e a gravidade de complicações, torna o manejo da NF um desafio para o clínico e envolve diferentes especialistas para o tratamento adequado e aconselhamento genético, especialmente a NF2 e a SCH. O presente texto sugere algumas orientações para o acompanhamento dos portadores de NF, com ênfase na NF1.

Neurofibromatoses: part 1 diagnosis and differential diagnosis / Das neurofibromatoses: parte 1 diagnostico e diagnostico diferencial

Neurofibromatoses (NF) are a group of genetic multiple tumor growing predisposition diseases: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH), which have in common the neural origin of tumors and cutaneous signs. They affect nearly 80 thousand of Brazilians. In recent years, the increased scientific knowledge on NF has allowed better clinical management and reduced complication morbidity, resulting in higher quality of life for NF patients. In most cases, neurology, psychiatry, dermatology, clinical geneticists, oncology and internal medicine specialists are able to make the differential diagnosis between NF and other diseases and to identify major NF complications. Nevertheless, due to its great variability in phenotype expression, progressive course, multiple organs involvement and unpredictable natural evolution, NF often requires the support of neurofibromatoses specialists for proper treatment and genetic counseling. This Part 1 offers step-by-step guidelines for NF differential diagnosis. Part 2 will present the NF clinical management.

Neurofibromatoses (NF) constituem um grupo de doenças genéticas com predisposição ao crescimento de múltiplos tumores: tipo 1 (NF1), tipo 2 (NF2) e schwannomatose (SCH). Estas doenças têm em comum a origem neural dos tumores e os sinais cutâneos. Afetam cerca de 80 mil brasileiros. O maior conhecimento científico sobre as NF tem permitido melhor manejo clínico, redução da morbidade das complicações e melhor qualidade de vida. Na maioria dos casos, os especialistas em neurologia, dermatologia, genética clínica, oncologia e medicina interna estão capacitados a realizar o diagnóstico diferencial e identificar suas principais complicações. Devido à sua variabilidade fenotípica, curso progressivo, multiplicidade de órgãos acometidos e evolução imprevisível, as NF frequentemente necessitam de especialistas em NF para o acompanhamento. A Parte 1 deste texto oferece orientações para o diagnóstico de cada tipo de NF e discute os diagnósticos diferenciais com outras doenças. A Parte 2 oferecerá orientações em relação ao manejo clínico das NF.

Neurofibromatosis: chronological history and current issues / Neurofibromatose: histórico cronológico e aspectos atuais

Neurofibromatosis, which was first described in 1882 by Von Recklinghausen, is a genetic disease characterized by a neuroectodermal abnormality and by clinical manifestations of systemic and progressive involvement which mainly affect the skin, nervous system, bones, eyes and possibly other organs. The disease may manifest in several ways and it can vary from individual to individual. Given the wealth of information about neurofibromatosis, we attempted to present this information in different ways. In the first part of this work, we present a chronological history, which describes the evolution of the disease since the early publications about the disorder until the conclusion of this work, focusing on relevant aspects which can be used by those wishing to investigate this disease. In the second part, we present an update on the various aspects that constitute this disease.

A neurofibromatose, descrita inicialmente em 1882 por Von Recklinghausen, é uma doença genética caracterizada por uma anormalidade neuroectodérmica e por manifestações clínicas de envolvimento sistêmico e progressivo, que acometem principalmente a pele, o sistema nervoso, ossos, olhos e eventualmente outros órgãos, podendo apresentar uma grande diversidade de manifestações que variam de indivíduo para indivíduo. Diante da riqueza de informações encontradas a respeito da neurofibromatose, buscamos apresentá-la sob diversos aspectos, organizando os conhecimentos a respeito dessa doença. Na primeira parte desse trabalho, apresentamos um histórico cronológico, relatando a evolução dessa doença desde os primórdios das publicações a ela referentes até o momento do término desse trabalho, dando ênfase aos fatos relevantes ao seu conhecimento e que possam ser utilizados por aqueles que pretendam pesquisar a respeito dessa afecção. Na segunda parte, apresentamos uma atualização sobre os diversos aspectos que compõem essa doença.

Neurofibromatose – relato de caso / Neurofibromatosis – case report

A neurofibromatose é uma doença autossômica dominante com um defeito básico nas células da crista neural. Embora existam muitas teorias com respeito à causa da neurofibromatose, a etiologia permanece desconhecida.É caracterizada pela presença de tumores cutâneos e subcutâneos, tumores de nervos e manchas “café com leite”. O diagnóstico é clínico devido ao padrão característico de acometimento cutâneo. A possibilidade de malignização dos neurofibromas em pacientes com NF é motivo de constante preocupação. Nosso objetivo é fazer uma breve revisão de neurofibromatose e descrevermos nosso caso clínico.

Neurofibromatosis is an autosomal dominant disorder that primarily affects the neural crest cells. Although there are many theories regarding the cause of neurofibromatosis, the etiology is still unknown. It is characterised by the presence of on and under skin tumours, nerve tumours and café-au-lait spots. The diagnostic is clinical due to the standard feature of skin involvement.The possibility of the neurofibromas to become malignant in patients with NF is cause for considerable concern. Our aim is to conduct a short review of neurofibromatosis and to describe our clinical case.

Pediatric intramedullary schwannoma without neurofibromatosis.

Pediatric intramedullary schwannoma without neurofibromatosis is extremely rare with only five cases reported so far. We present this rare finding in an 8-year-old boy who presented with a sudden onset of weakness in all limbs. An intraoperative diagnosis of schwannoma enabled us to carry out a total excision of the tumor, which resulted in near complete recovery at 18 months follow-up. Although rare, this diagnosis should be considered when a child presents with a solitary intramedullary tumor, since its total resection can be achieved improving surgical outcome.

Intraosseous Nerve Sheath Tumors in the Jaws

Although the head and neck region is recognized as the most common location for peripheral nerve sheath tumors, central involvement, particularly in the jaw bones, is quite unusual. Neurofibroma is one of the most common nerve sheath tumors occurring in the soft tissue and generally appears in neurofibromatosis 1 (NF1 or von Recklinghausen's disease). Malignant peripheral nerve sheath tumors (MPNSTs) are uncommon sarcomas that almost always arise in the soft tissue. Here, we report four cases of intraosseous peripheral nerve sheath tumors occurring in the jaw bones and compare the clinical, radiologic, and pathologic findings in order to make a differential diagnosis.

Comorbilidad infrecuente en una niña afectada de craneosinostosis: a propósito de un caso / Comorbidity unusual in a girl suffering from craniosynostosis: a purpose of a case

La craneosinostosis secundaria a la obliteración prematura de una o varias suturas craneales, da lugar a deformidad de la bóveda y/o la base del cráneo. Las neurofibromatosis son trastornos genéticos del sistema nervioso. La acidosis tubular renal esta caracterizada por hipercalciuria y acidemia (8). Paciente femenina de 6 años de edad, con diagnóstico clínico radiológico de craneosinostosis turricefálica sin compromiso neurológico desde 6 meses de edad. Referida al CRN "Dr. Pastor Oropeza", allí se diagnóstica neurofibromatosis y acidosis tubular renal. Intervención neuroquirúrgica a los 4 años de edad en Caracas, el procedimiento se realizo sin complicaciones. La turricefália se produce por el cierre completo de la sutura coronal, presentándose un cráneo en torre con disminución de su diámetro antero posterior y alargado en altura.(3). En estudios realizados se ha observado la asociación con neurofibromatosis en baja proporción; sin embargo no se han descrito casos con acidosis tubular renal. La importancia de este caso radica en que la literatura no reporta un síndrome con las características clínicas de esta niña; siendo infrecuente dicha asociación de patologías en un mismo paciente; en la actualidad la niña presenta un desarrollo psicosocial e intelectual normal.

Neurofibromatose (Doença de Von Recklinghausen) relato de caso / Neurofibromatosis (Von Recklinghausen Illness) case report

A neurofibromatose I é a forma clássica da doença, descrita em 1882, por von Recklinghausen, transmitida por herança autossômica dominante. Caracteriza-se pela presença de manchas café-com-leite, nódulos fibromatosos (neurofibromas), nódulos de Lisch na íris e efélides axilares. S.T.N.C, 30 anos, feminina, procurou o serviço de Cirurgia Plástica do Hospital de Clinicas com deformidade crânio-facial centrada em órbita direita, que evoluiu com aumento progressivo da área comprometida associada a amaurose. Ao exame, observou-se importante deformidade hemicraniofacial direita, com lesão neurofibromatosa comprometendo as regiões da fossa temporal superficial, frontal, órbito-palpebral, jugal, labial e mandibular com aspecto de gota gigante multilobulada, tracionando e deformando todas as estruturas da face. Apresentava, ainda, macroqueilia, mordida aberta, ausência de ramo ascendente mandibular direito e paralisia facial direita. Diversas lesões nodulares café-com-leite disseminadas pela superfície cutânea foram encontradas. Os exames complementares realizados, radiografia de face e crânio, tomografia computadorizada e ressonância magnética crânio-facial, demonstraram continuidade da lesão com o tecido cerebral e grande número de fístulas artério-venosa volumosas, denotando associação com deformidade vascular grave. De acordo com estes resultados, foi decidido não submeter a paciente a tratamento cirúrgico, devido ao potencial risco de óbito, bem como a pouca melhora estético funcional a se conseguir com a operação.

In 1882, Von Recklinghausen described neurofibromatosis type I, an autossomal dominant inherited disease, with clinical features of “cafe-au-lait” spots neurofibromas, freckling in the axillary or inguinal regions, optic glioma, Lisch nodules in iris and distinctive osseous lesions. STNC, a 30 year old female, was attended by Plastic Surgery staff at the “Hospital de Clínicas da Universidade Federal do Paraná - Brazil with a craniofacial deformity centred at the right orbit, with progressive regional increase in size and with impaired of visual acuity. Physical findings: prominent hemicraniofacial deformity due to a neurofibroma involving superficial temporal fossa, frontal, orbital, la- bial, jugal and mandibular regions with the aspect of multilobuleted giant drop, tractioning and deforming all the structure of her face. Macrocheilia, mandibular teeth didn’t touch maxillary teeth, absence of ascendant mandibular ramus, right facial palsy and “cafe-au-lait” spots were documented. Image Findings: facial and cranial x-rays, CT and MRI showed that the lesion compromised in continuity with cerebral tissue and the presence of huge arteriovenous fistulas. Management: Due to high risk of death during and/or after the surgery, the patient received clinical and psychological treatment and orientation.

A Case of Multiple Schwannomas of the Trigeminal Nerves, Acoustic Nerves, Lower Cranial Nerves, Brachial Plexuses and Spinal Canal: Schwannomatosis or Neurofibromatosis?

In most cases, while schwannoma is sporadically manifested as a single benign neoplasm, the presence of multiple schwannomas in one patient is usually indicative of neurofibromatosis 2. However, several recent reports have suggested that schwannomatosis itself may also be a distinct clinical entity. This study examines an extremely rare case of probable schwannomatosis associated with intracranial, intraspinal and peripheral involvements. A 63-year-old woman presented with a seven-year history of palpable lumps on both sides of the supraclavicular area and hearing impairment in both ears. On physical examination, no skin manifestations were evident. Facial sensory change, deafness in the left ear and decreased gag reflex were revealed by neurological examination. Magnetic resonance imaging revealed multiple lesions of the trigeminal nerves, acoustic nerves, lower cranial nerves, spinal accessory nerve, brachial plexuses, and spinal nerves. Pathological examination of tumors from the bilateral brachial plexuses, the spinal nerve in the T8 spinal position and the neck mass revealed benign schwannomas. Following is this patient case report of multiple schwannomas presenting with no skin manifestations of neurofibromatosis.

Neurofibromatosis: reporte de un caso no habitual / Neurofibromatosis: report a case non usual

Presentamos un caso de Neurofibromatosis tipo 1 caracterizadas por lesiones dérmicas diseminadas como manchas parduzcas (cafe-au-lait), y neurofibroma a nivel cervical, que comprometio las raíces de los nervios espinales y ejercició presión sobre las estructuras contiguas y extensión hacia los agujeros intervertebrales. El diagnóstico, además de la clínica, se obtuvo a través de la Resonancia Magnética Nuclear. Se describe este caso por la poca frecuencia de comprensión radicular por neurofibroma

Neurofibromatosis segmentaria (tipo V): presentación de tres casos / Segmental neurofibromatosis (type V): presentation of cases three

Presentamos tres casos de neurofibromatosis segmentaria y un breve recuento de los tipos de neurofibromatosis, haciendo énfasis en la modalidad segmentaria de esta afección

Neurofibromatosis segmentaria / Segmental neurofibromatosis

La neurofibromatosis segmentaria (tipo V en la clasificación de Riccardi), se manifiesta con neurofibromas y/o máculas café con leche con distrubución segmentaria. La etiología no está totalmente aclarada, pero se ha postulado una mutación somática postcigótica. Presentamos una paciente de 62 años de edad con esta forma particular de neurofibromatosis y realizamos una revisión de la literatura

Anterior corpectomy and posterior instrumentation for scoliosis in neurofibromatosis [a new technique]

8 cases of neurofibromatosis with dystrophic scoliosis were treated using this new technique. All patients [3 females and 5 males] were characterized by short angular dorsal curve with kyphosis. Preoperative X-ray and pulmonary functions were done. Surgical management involved anterior corpectomy [one or more, up to 3 bodies were removed] and posterior instrumentation with fusion. The posterior instrumentations used included Harrington distraction rod with or without compression system over the convexity of the curve or rectangular frame. Sublaminar wires were used at all levels in both types of instrumentations. Autogenous bone graft was taken from the prominent adjacent ribs. POP jacket was applied for 3 months to be followed by a brace for a minimum of 3 months till radiological evidence of union was established. This combined procedures were done as one stage procedure. All cases were fused. One case required relocation of upper hook. Average correction was 50%

Neurofibroma múltiplo retroperitoneal: relato de um caso / Multiple retroperitoneal neurofibroma: report of a case

Tumores de origem nervosa localizados no retroperitônio säo raros, com sintomas incaracterísticos de diagnóstico extremamente dificultoso. É descrito o caso de um portador assintomático de dois neurofibromas retroperitoneais benignos: um deles calcificado e próximo ao polo inferior do rim esquerdo; o outro estava intimamente aderido à cauda pancreática no andar supremesocólico. Ambos foram extirpados com margens cirúrgicas adequadas. O estudo histológico e imuno-histoquímicos permitiu o correto diagnóstico da neoplasia. Säo tecidas consideraçöes sobre a propedêutica diagnóstica desses tumores, sobre a possibilidade de sua degeneraçäo maligna e seu tratamento cirúrgico