Caso Clínico: Neurofibromatosis Tipo 1, resolución quirúrgica / Case Report: Neurofibromatos Type 1, Surgical Management

INTRODUCCIÓN: La neurofibromatosis tipo 1(NF1) descrita por primera vez por von Recklinghausen en 1884, es una enfermedad de transmisión genética autosómica dominante, causada por un espectro de mutaciones en el gen NF-1, de evolución impredecible, que afecta múltiples órganos y sistemas, como la piel y el sistema nervioso, afectando también el desarrollo infantil y al estado neurocognitivo. Representa para el médico la toma de decisiones de manejo a menudo complejas, que requieren un enfoque multidisciplinario. CASO CLÍNICO: Paciente femenino de 9 años de edad, con antecedente de neurofibromatosis tipo 1. Presenta masa en región cervical anterior, que ocupa además el hemitórax izquierdo, comprimiendo el mediastino anterior, la tráquea del lado izquierdo, el corazón, el pulmón izquierdo; la masa produce sintomatología: disnea, disfagia y dolor, por lo que se programa intervención quirúrgica para exéresis del tumor. Se realizó cervico-esternotomía- toracotomía izquierda, se extirpó masa de 12 x 7 cm, ubicada a nivel de cayado aórtico, íntimamente adherida a la columna vertebral cervico-torácica. EVOLUCIÓN: Durante el acto quirúrgico la paciente tuvo un sangrado cuantioso, proveniente de arteria colateral de carótida común izquierda, por lo que se decidió empaquetar para resolución posterior, 24 horas después se desempaquetó, logrando control del sangrado tras el procedimiento. Los resultados de anatomía patología establecieron que la masa fue un neurofibroma. El seguimiento posterior determinó mejoría de la sintomatología, sin complicaciones quirúrgicas tardías. CONCLUSIÓN: La Neurofibromatosis es una patología congénita, poco frecuente y de complejo manejo. Aunque no existe tratamiento definitivo para la neurofibromatosis tipo 1, se puede realizar un manejo integral para mejorar la calidad de vida del paciente. Los tumores pueden extirparse mediante cirugía, aunque a menudo vuelven a crecer.(au)

BACKGROUND: Neurofibromatosis type 1, first described by von Recklinghausen in 1884, is an autosomal dominant genetically transmitted disease, caused by a spectrum of mutations in the NF-1 gen, with unpredictable evolution, that affects multiple organs and systems, such as the skin and the nervous system, also affecting child development and neurocognitive functions. It often requires complex management decisions from the physician that involve a multidisciplinary approach. CASE REPORTS: 9 year old female patient with a history of type 1 neurofibromatosis. She presented with a mass located in the anterior cervical region, occupying also the left hemithorax, compressing the anterior mediastinum, the trachea from its left side, the heart, and the left lung; the mass produced symptoms: dyspnea, dysphagia and pain, so surgical excision of the mass was scheduled. A left cervical-sternotomy-thoracotomy was performed, a 12 x 7cm mass, located at aortic arch level, closely adhered to the cervical-thoracic spine, was excised. EVOLUTION: During the surgical procedure, the patient had profuse bleeding, coming form the left common carotid colateral artery, so abdominal packing was performed, for later resolution. 24 hours later, bleeding control was achieved after the surgical re-intervention. The pathology lab results established that the mass was in fact a neurofibroma. Subsequent follow-up determined symptoms improvement, without late surgical complications. CONCLUSIONS: Neurofibromatosis is a congenital infrequent, disease, with a complex treatment. Although there is no definitive treatment for type 1 neurofibromatosis, comprehensive management can be achieved to improve the patient's quality of life. Tumors can be surgically removed, although they often grow back.(au)

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

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

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

Neurofibromatosis tipos 1 y 2 / Neurofibromatosis type 1 and 2

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)

Neurofibromatosis tipo 1 (nf1): presentación de un caso clínico con variable expresividad fenotípica y revisión de la literatura / Review and presentation of neurofibromatosis type 1 (nf1): clinical case with variable phenotypic exressivity

RESUMEN La neurofibromatosis tipo 1 (NF1) o enfermedad de Von Recklinghausen, es un desorden genético hereditario, que se transmite bajo un patrón autosómico dominante con penetrancia casi del 100%, progresiva, multisistémica con afectación predominante de piel y sistema nervioso. Siendo el más frecuente de los síndromes neurocutáneos. Tiene una incidencia de 1 por cada 3.000 nacimientos a nivel mundial. Las manifestaciones clínico dermatológicas más comunes son: maculas café con leche, nódulos de Lisch y efélides en áreas no foto expuestas. Se reporta el caso de paciente masculino de 8 años de edad, con antecedentes contributorios y rasgos fenotípicos, diagnósticos para la enfermedad.

SUMMARY Neurofibromatosis type 1 (NF1) or Von Recklinghausen disease, is an hereditary genetic disorder with autosomal dominant inheritance and almost 100% of penetrance. Characteristically progressive and multisystemic, with predominant skin and nervous system involvement. It is the most frequent neurocutaneous syndrome with an incidence of 1 per 3,000 births worldwide. Usual skin findings include cafe-au-lait macules, neurofibromas and freckles in non-photo exposed areas. We report the case of an 8-year-old male with a contributory family history and diagnostic phenotypic features for this disease.

Manejo anestésico en la enfermedad de Von Recklinghausen. Reporte de un caso / Von Recklinghausen syndrome: Case report and anesthesis management

La enfermedad de Von Recklinghausen o neurofibromatosis tipo I es una enfermedad caracterizada por tendencia a la formación de tumores de tejidos del ectodermo y mesodermo. Existen diversas implicaciones anestésicas que incluyen la sensibilidad alterada a la succinilcolina y a relajantes neuromusculares no-despolarizantes, además de alteraciones en la anatomía normal de la vía aérea; se presenta el caso de una paciente de 58 años programada para la resección de tumoración cutánea temporo-parietal derecha, se utilizó succinilcolina como relajante muscular en donde a pesar de la vida media corta de éste, no se requirió de dosis subsecuentes durante el tiempo de duración de la cirugía; por lo que se corroboro una sensibilidad alterada hacia los relajantes musculares de tipo despolarizantes en este tipo de pacientes.

Von Recklinghausen disease or neurofibromatosis type I is a disease characterized by the tendency to form tissue tumors of the ectoderm and mesoderm. There are several anesthetic implications that include altered sensitivity to succinylcholine and non-depolarizing neuromuscular relaxants, in addition to alterations in the normal anatomy of the airway; we present the case of a 58 year old patient scheduled for the resection of the right temporo-parietal cutaneous tumor. Succinylcholine was used as a muscle relaxant. Despite its short half-life, no subsequent doses were required during the treatment period duration of surgery; Therefore, an altered sensitivity towards muscle relaxants of depolarizing type was corroborated in this type of patients.

Neurofibromatosis sin neurofibromas con tumor mediastinal como forma de debut / Neurofibromatosis without neurofibromas. Case report with a mediastinal tumor as the first sign of the disease

Se presenta paciente con historia familiar de neurofibromatosis (NF) tipo I, con síntomas y signos sugestivos de esta enfermedad que refiere dolor torácico paravertebral izquierdo al cual mediante estudios de imagen se le diagnostica lesión tumoral en mediastino posterior. Es de notar la presencia de manchas cutáneas características de la neurofibromatosis, localizadas solo en un dermatoma del cuerpo sin neurofibromas en ninguna otra localización. Se intervino quirúrgicamente el enfermo, se resecó una gran masa mediastinal que se confirmó histológicamente ser un neurofibroma. La evolución posquirúrgica fue satisfactoria. Se discuten las singularidades de este enfermo sobre la base de criterios diagnósticos de neurofibromatosis tipo I, pero sin neurofibromas periféricos hasta ese momento. La posibilidad de una neurofibromatosis segmentaria tampoco se descarta. Se hace énfasis en la necesidad de resección de cualquier lesión tumoral en el contexto de este síndrome genético por la frecuencia de lesiones malignas asociadas a la neurofibromatosis y a la progresión hacia la malignidad de lesiones primariamente benignas(AU)

A patient with a family history of Neurofibromatosis type I was presented. The patient referred symptoms and signs suggestive of that disease and complaint of left paravertebral chest pain. Imaging investigations were done and a posterior mediastinal tumor was diagnosed. It is important to highlight the presence of characteristics spot of neurofibromatosis localized only in one dermatome without neurofibromas in any other part of the body. The patient underwent a surgical intervention and a left thoracotomy was done, a large posterior mediastinal tumor was found and totally resected. The histology confirmed a neurofibroma. The postoperative evolution was satisfactory. The singularities of this patient were discussed, especially diagnosis criteria for neurofibromatosis type I, and the lack of peripheral neurofibromas until that moment. The possibility for a segmental neurofibromatosis also was considered. We pointed out about the necessity to remove any neoplastic lesion in the background of this genetic syndrome due to the high frequency of malignancies associated with neurofibromatosis, and also related with the malignant degeneration these tumors can develop(AU)

Neurofibroma del mesenterio en un paciente sin enfermedad de Von Recklinghausen / Mesenteric neurofibroma seen in a patient without Von Recklinghausen´disease

Los neurofibromas son tumores benignos del sistema nervioso que pueden ser solitarios o múltiples: la neurofibromatosis o enfermedad de Von Recklinghausen. Estos tumores en general son de consistencia blanda, frecuentes a nivel de partes blandas, su localización en el aparato digestivo es infrecuente y no son encapsulados. El objetivo del presente trabajo fue presentar el caso de una paciente con neurofibroma mesentérico sin enfermedad de Von Recklinghausen. Se presenta el caso de una paciente de 41 años que fue ingresada por dolor abdominal y una tumoración palpable en la región entre flanco e hipocondrio izquierdo. En los estudios imaginológicos realizados se informó como quiste del mesenterio, lo que fue confirmado en el acto quirúrgico. Se realizó exéresis de la tumoración informada por Anatomía Patológica como neurofibroma secundariamente enquistado benigno. El neurofibroma mesentérico es una tumoración que puede verse en pacientes sin enfermedad de Von Recklinghausen.

Neurofibromas are benign tumors of the nervous system that can be solitary or multiple, the neurofibromatosis or Recklinghausen's disease. In general, these tumors are soft, non-encapsulated, more frequent in soft parts of the body and infrequent in the digestive system. The objective of the present paper was to present a female patient with mesenteric neurofibroma and without Von Recklinghausen disease. Here is a 41 years-old female patient who was admitted to the hospital because she suffered abdominal pain and a palpable tumor at the region between left flank and hypochondrium. The imaging studies revealed a mesenteric cyst, which was confirmed in surgery. The tumor was classified as a benign cyst neurofibroma by pathological anatomy and finally removed. The mesenteric neurofibroma is a tumor that can be found in patients without Von Recklinghausen disease.

Plexiform Neurofibroma: An Unusual Diagnosis of Lip Swellings.

Neurofibromas (NF) are seen either as a solitary lesion or as part of the generalized syndrome of NF (NF-1, also known as Von Recklinghausen disease of the skin). In plexiform neurofibroma (PN), there is proliferation of Schwann cells from the inner aspect of the nerve sheath, thereby resulting in an irregularly thickened, distorted, tortuous structure. Oral involvement by a solitary and peripheral PN in patients with no other signs of NF is rarely seen. It is reported that only 4-7% of patients affected by NF display oral manifestations. A solitary PN in a patient with no other symptoms is a diagnostic challenge, more so when the location of the lesion is one of the rarest sites.

Neurofibromatosis Type I Associated with Malaria: A Case Report and Review of Literature.

Neurofibromatosis (von Recklinghausen disease) is a genetic disorder which is now not been considered to be most common due to a gradual increase in its number of cases worldwide. Its prevalence found is around 1 in 4000-5000 individuals with the incidence been found equally in all regions and reported in almost all ethnic groups. Two-three million cases are reported all over world so far with this disorder. It is an autosomal dominant trait with varied age range of the cases reported from 6 years to late adulthood. Disease occurs by a genetic mutation in the neurofibromatosis Type 1 (NF1) gene (tumor suppressor gene) which is located on chromosome no. 17 at 17q11.2, responsible for coding of neurofibromin, a cytoplasmic protein. The effect of this mutation is elicited in almost all systems of the body with mild to severe complications. About half of the cases reported are present with new mutations in the NF1 genes. A patient afflicted with NF1 has around 50-60% of chances of transmitting the disease to each of his/her offspring. Presenting here a case of the female patient diagnosed malaria associated with NF1.

Malignant peripheral nerve sheath tumor of adrenal gland with heterologus osseous differentiation in a case of Von Recklinghausen's disease.

Malignant peripheral nerve sheath tumor (MPNST) of the adrenal gland is extremely rare. Most of them occur in association with neurofi bromatosis, ganglioneuroma or as part of a composite tumor such as pheochromocytoma. Only seven cases of MPNST of the adrenal gland have been reported in the literature till date. Discriminating this entity from other soft tissue sarcomas and gastrointestinal stromal tumor of the adrenal gland has important diagnostic and therapeutic implications. Moreover, the tumor size and pattern of expression for certain immunohistochemical markers may serve as independent predictors of aggressiveness. Herein we present a 24-years-old male with features of Von Recklinghausen’s disease who presented with large left adrenal gland malignant peripheral nerve sheath tumor.

Neurofibroma plexiforme cecal em paciente com neurofibromatose tipo 1 / Cecal plexiform neurofibroma in a patient with neurofibromatosis type 1

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.

Neurofibromatosis de von Recklinghausen: presentación de un caso de neurofibroma vaginal y revisión de la literatura / von recklinghausen’s neurofibromatosis: presenting a case of vaginal neurofibroma and literature review

Objetivo: revisar las manifestaciones de la neurofibromatosis de presentación en la región genital, el diagnóstico diferencial y el manejo de las lesiones.Materiales y métodos: paciente de 63 años remitida por masa en región genital a la Unidad de Colposcopia y Patología del Tracto Genital Inferior del Hospital de Suba, institución pública de segundo nivel de complejidad ubicada en Bogotá, Colombia, donde se atiende a población del régimen subsidiado. Al examen físico se encontraron manchas café-au-lait y lesiones compatibles con neurofibromas que orientaron el diagnóstico de neurofibromatosis tipo 1. Se realizó una búsqueda sistemática de la literatura en Medline-Pubmed usando los términos MeSH neurofibromatosis, enfermedad de von Recklinghausen, vagina, tracto genital, tumor pélvico; se presenta el caso clínico y la revisión del tema.Resultados: se encontraron 7991 publicaciones relacionadas con neurofibromatosis, y de estas solo 30 relacionadas con lesiones pélvicas y de tracto genitourinario; solo 6 reportes de casos y una serie de casos presentaban lesiones localizadas en tracto genital inferior. Para la descripción de las generalidades y los criterios diagnósticos se seleccionaron 12 artículos de revisión del tema. El diagnóstico diferencial incluye schwannoma, neuroma, mixoma, leiomioma y pólipo fibroepitelial.Conclusiones: el hallazgo de neurofibromas en el tracto genitourinario es un evento de baja ocurrencia y es un tema de interés para ginecólogos, pediatras y urólogos pues constituye un reto diagnóstico.

Objective: Reviewing manifestations of neurofibromatosis presenting in the genital region, their differential diagnosis and managing lesions. Materials and methods: The case of a 63-year-old patient admitted to the Suba hospital’s colposcopy and pathology of the lower genital tract service due to having a mass in the genital region is presented; the hospital is a second level complexity public institution in Bogotá, Colombia, dealing with a subsidised regime population. Physical examination revealed café-au-lait spots and lesions compatible with neurofibroma, thereby orientating diagnosis towards neurofibromatosis type 1. A systematic search was made of the literature in Medline-Pubmed, using the MeSH terms: neurofibromatosis, von Recklinghausen’s disease, vagina, genital tract, pelvic tumour. A clinical case and review of the topic are presented. Results: 7,991 publications related to neurofibromatosis were found. Just 30 of them were related to pelvic lesions and the genitourinary tract and only 6 case reports and one case series dealt with lesions located in the lower genital tract; 12 articles reviewing the topic were selected for a description of the diagnostic generalities and criteria. Differential diagnosis included schwannoma, neuroma, myxoma, leiomyoma and fibroepithelial polyp. Conclusions: A neurofibroma being identified in the genitourinary tract is an infrequently occurring event, constituting a topic of interest for gynaecologists, paediatricians and urologists as it represents a diagnostic challenge.

Doença de Von Recklinghausen: relato de caso / Von Recklinghausen's disease: case report

JUSTIFICATIVA E OBJETIVOS: A doença de Von Recklinghausen, também conhecida como neurofibromatose, é uma doença multissistêmica com características bem estabelecidas.Algumas manifestações são progressivas e resultam em considerável morbidade e mortalidade. Apresenta grande impacto na qualidade de vida, tanto do ponto de vista clínico como no aspecto estético, constituindo uma verdadeira agressão à autoimagem e à autoestima. Assim torna-se imperioso, relatar manifestações clínicas, critérios de diagnóstico, manuseio e acompanhamento dos pacientes com essa doença, devido à necessidade de diagnóstico precoce das complicações mais comuns em cada faixa etária, e conduta adequada no sentido de minimizá-las ou eliminá-las.RELATO DO CASO: Paciente do sexo feminino, 50 anos,procurou atendimento médico na unidade básica de saúde com queixa principal de caroços espalhados por todo o corpo,que aumentavam de tamanho com o tempo, acompanhado de manchas no tórax e nos membros, associadas à sardas em axila esquerda. Apresentava dor na linha mediana torácica e cefaleia do tipo enxaquequosa, quase que diariamente. Paciente sabidamente hipertensa, com história de catarata e miopia.CONCLUSÃO : Atualmente não há cura, sendo seu tratamento a ressecção cirúrgica das lesões que comprometem a funçãoe/ou a estética do paciente. A psicoterapia e o acompanhamento social são válidos para restaurar e reconstruir o equilíbrio emocional dos pacientes. O encaminhamento do paciente às demais especialidades médicas é de extrema valia para identificar possíveis complicações e realizar tanto o aconselhamento genético quanto o monitoramento da progressão da doença.

BACKGROUND AND OBJECTIVES: Von Recklinghausen's disease, also known as neurofibromatosis, is a multisystem disease with features well established. Some manifestations are progressive and result in considerable morbidity and mortality. This has great impact on quality of life, both in terms of clinical and aesthetic aspects, constituting a veritable assault on the self-image and self esteem. Thus it becomes imperative, to report clinical manifestations, diagnostic criteria, management and monitoring of patients with this disease, due to the need for early diagnosis of common complications in each age group, and appropriate action to minimize or eliminate them.CASE REPORT: Female patient, 50 years-old, sought medical care at primary care unit with a chief complaint of pits scattered throughout the body, which increased in size over time, accompanied by spots on the chest and limbs, associated freckles in the armpit. She had chest pain in the midline and migraine type headache almost daily. Known hypertensive patient with a history of cataract and myopia.CONCLUSION: Currently there is no cure, its treatment is surgical resection of lesions that compromise the function and / or the aesthetics of the patient. Psychotherapy and social support are valid to restore and rebuild the emotional balance of the patients. The referral of patients to other medical specialties is extremely important to identify potential complications and perform both genetic counseling and monitoring of disease progression.

Rupture of Posterior Tibial Artery Aneurysm in a Patient with von Recklinghausen's Disease / 日本心臓血管外科学会雑誌

A 53-year-old woman with von Recklinghausen's disease was admitted with severe pain and acute right leg swelling. The physical examination revealed neurofibromas and café-au-lait spots, typical of patients with von Recklinghausen's disease. Computed tomography and ultrasonography showed a rupture of a posterior tibial artery pseudoaneurysm. Since her complaint of pain was severe and because of the rapid progression of pseudoaneurysm, we performed an emergency operation. Under general anesthesia with the pneumatic tourniquet technique, both of the proximal and distal sides of the posterior tibial artery were ligated, and the pseudoaneurysm was resected. The postoperative course was uneventful. She was given an ambulatory discharge 26 days after operation. Histological examination revealed spindle-shaped cells infiltrating the aneurysmal wall. We diagnosed this is a vascular lesion of von Recklinghausen's disease.

Neurofibromatose tipo 1 / Neurofibromatosis type 1

Uma mulher de 45 anos se apresentou no Serviço de Pneumologia relatando cansaço, dispneia, nodulações na pele e manchas em todo o corpo. Apresentou diagnóstico de neurofibromatose tipo 1, também conhecida como doença de von Recklinghausen, uma das doenças de herança autossômica dominante mais frequentes na espécie humana e que será objeto desta revisão. As manifestações dermatológicas clássicas da NF caracterizam-se pela presença de neurofibromas e manchas café com leite. Será discutida aqui a importância do diagnóstico dessa doença de caráter hereditário para possibilitar aconselhamento genético à família acometida e esclarecimento ao portador

A 45-year-old female visited the pulmonology department reporting fatigue, dyspnea, skin nodules and stains throughout the body. She had the diagnosis of neurofibromatosis type 1, also known as von Recklinghausen’s disease, one of the most frequent autosomal dominant diseases in humans, which will be the focus of this review. The typical skin manifestations of neurofibromatosis are characterized by the presence of neurofibromas and café au lait spots. Here we discuss the importance of diagnosing this hereditary disease in order to deliver genetic counseling and information to the carriers and their families

Von Recklinghausen's disease - diagnosis from oral lesion: neurofibromatosis I / Enfermedad de Von Recklinghausen: diagnóstico desde la lesión oral: neurofibromatosis I

A 35 years-old male patient was referred to your Institution due to a nodule on the palate with more than 15 years of evolution. In general physical examination noticed the presence of papules and café au lait (coffee with milk) pigmentation in many parts of the body. Intra oral examination found a swelling in the hard palate and resilient on palpation, asymptomatic with three centimeters of diameter. Incisional biopsy was performed and the diagnosis was neurofibroma. Complete resection of the lesion was performed confirming the initial diagnosis. The general clinical findings and the presence of neurofibroma confirmed the diagnosis of Von Recklinghausen's disease. This paper emphasizes the important role of the dentist in diagnostic and follow-up of the Von Recklinghausen's disease.

Un paciente hombre de 35 años de edad fue remitido a la Institución, debido a un nódulo en el paladar con más de 15 años de evolución. En el examen físico general, notaron la presencia de pápulas y pigmentaciones café au lait (café con leche) en muchas partes del cuerpo. Al examen oral intra se encontró un aumento de volúmen en el paladar duro resistente a la palpación, asintomático, con tres centímetros de diámetro. Se realizó la biopsia incisional, y el diagnóstico fue neurofibroma. La resección completa de la lesión confirma el diagnóstico inicial. Las conclusiones clínicas generales y la presencia de neurofibroma confirmó el diagnóstico de la enfermedad de Von Recklinghausen. Este trabajo destaca el importante papel del odontólogo en el diagnóstico y seguimiento de la enfermedad de Von Recklinghausen.

Neurofibromatosis de von Recklinghausen en la niñez / Von Recklinghausen's neurofibromatosis in the childhood

Se presenta el caso clínico de una niña argelina de 7 años de edad, con exoftalmos del ojo derecho de 3 años de evolución, que acudió a la consulta externa del Hospital Oftalmológico Amistad Argelia-Cuba de la Willaya de Djelfa en la República Democrática y Popular de Argelia. En el examen físico se encontraron numerosas manchas de color café con leche diseminadas por todo el cuerpo y tumor exofítico palpebral del lado derecho; y en el oftalmológico especializado: nódulos de Lisch. Por medio de la tomografía axial computarizada de cráneo se comprobó un proceso tumoral intraocular y tumor palpebral derechos, que infiltraban los músculos oculomotores: oblicuo menor y externo derecho. Se concluyó que la paciente presentaba neurofibromatosis de von Recklinghausen.

The clinical case of a 7-year-old Algerian girl with 3 year-exophthalmos of the right eye is reported who went to the outpatient department of the Ophthalmology Hospital Amistad Argelia-Cuba from Wilaya de Djelfa in the Democratic and People's Republic of Algeria. On physical examination numerous coffee-and-milk spots spread throughout the body and lid exophytic tumor of the right side were found, and in the specialized ophthalmologic testing: Lisch nodules. Cranial computerized axial tomography revealed a right intraocular tumor process and right palpebral tumor infiltrating oculomotor muscles: inferior oblique and right external. It was concluded that the patient presented with von Recklinghausen's neurofibromatosis.

Neurofibromatosis: reporte de un caso / Neurofibromatosis: a case report

La neurofibromatosis tipo I (NF1) es una alteración autosómica dominante que se manifiesta con múltiples lesionescutáneas, llamadas neurofibromas. Las manifestaciones orales han sido reportadas en porcentajes bajos, siendo la lengua el lugarafectado con mayor frecuencia. Presentamos el caso de una paciente afectada por neurofibromas que invaden cavidad oral y lenguaque fue tratada en el servicio de Cirugía Oral y Maxilofacial del Hospital Universitario San Vicente de Paúl.

Type I Neurofibromatosis (NF1) is an autosomal dominant disease that presents with multiple cutaneous lesions,named neurofibromas. Oral manifestations have been reported in low percentages, but the tongue has been the most common site. This is a report of a case of a young girl with neurofibroma which invaded the oral cavity and tongue and was treated at the Oral and Maxillofacial Surgery Service of Hospital Universitario San Vicente de Paúl.

Neurofibromatosis: Neurofibroma plexiforme localizado en mama. A propósito de un caso / Neurofibromatosis: Plexiform Neurofibroma Localized In Mamma. A Propos Of A Case

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.

Neurofibroma plexiforme de punta nasal / Plexiform neurofibromatosis of nasal TIP

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.