Tumor glómico causante de dolor de dedo crónico: la prueba de detección de isquemia es un signo clínico fiable para su diagnóstico. Informe de un caso y revisión de la literatura / Glomus tumor causing chronic finger pain: Ischemia test is a reliable clinical sign for the diagnosis. Case report and review of literature

Los tumores glómicos (TG) son neoplasias benignas raras, que se derivan de la estructura neuroarterial denominada cuerpo glómico, un shunt arteriovenoso especializado implicado en la regulación de la temperatura. Representan menos de 2% de los tumores del tejido blando, y entre 1 y 4,5% de los tumores de la mano. Aun cuando sus primeras descripciones aparecieron hace casi 100 años, son comunes la demora y la ausencia diagnósticas, las cuales originan un sufrimiento terrible. La tríada diagnóstica clásica consiste en dolor espontáneo, sensación de presión y sensibilidad, e hipersensibilidad al frío. La imagen de resonancia magnética (IRM) sigue siendo la modalidad de imagen más útil. La supresión del dolor tras inflar un esfigmomanómetro por encima de los niveles de la presión arterial sistólica (prueba de detección de isquemia) es altamente diagnóstica, por lo que sugerimos el uso rutinario de esta prueba simple en los casos de dolor en la extremidad superior de etiología desconocida. La resección quirúrgica es el tratamiento de elección, y es curativa. (AU)

Glomus tumors are a rare benign neoplasm arising from the neuroarterial structure called the glomus body, a specialized arteriovenous shunt involved in temperature regulation. They represent less than 2% of soft tissue tumors and between 1 and 4.5% of hand's tumors. Even though its first descriptions appeared almost 100 years ago, late and missed diagnoses are common, which leads to terrible suffering. The classic diagnostic triad consists of spontaneous pain, pressure sensation and tenderness, and cold hypersensitivity. Magnetic resonance imaging stills the most useful imaging modality. Abolition of pain after inflating a blood pressure cuff above systolic blood pressure levels (ischemia test) is highly diagnostic, so we suggest the routine use of this simple test in cases of upper limb pain of unknown etiology clear. Surgical excision is the treatment of choice and is curative. (AU)

Glomus tumor causing chronic finger pain: ischemia test is a reliable clinical sign for the diagnosis. Case report and review of literature.

Glomus tumors are a rare, benign neoplasm arising from the neuroarterial structure known as the glomus body, which is a specialized arteriovenous shunt involved in temperature regulation. They account for less than 2% of soft tissue tumors and between 1% and 4.5% of tumors in the hand.. Despite their first descriptions appearing almost 100 years ago, late and missed diagnoses are common, leading to significant suffering. The classic diagnostic triad includes spontaneous pain, a sensation of pressure and tenderness, and cold hypersensitivity. Magnetic resonance imaging remains the most useful imaging modality. The abolition of pain after inflating a blood pressure cuff above the systolic blood pressure level (ischemia test) is highly diagnostic.Therefore, we suggest the routine use of this simple test in cases of upper limb pain of unclear etiology . Surgical excision is the treatment of choice and is curative.

Tumor glômico em antebraço direito: uma apresentação atípica / Glomus tumor in the right forearm: an atypical presentatio

Introdução: Tumor glômico é uma neoplasia mesenquimal rara que compreende menos de 2% dos tumores de partes moles. Trata-se de um tumor com comportamento clínico benigno, de maior incidência no sexo feminino, entre a segunda e quarta década de vida. Objetivo: Apresentar um caso clínico de tumor glômico. Material e Método: Estudo tipo relato de caso. Relato: Homem de 35 anos de idade com nódulo em antebraço direito há 5 anos. Tratava-se de um nódulo, não ulcerado, eritemato-acastanhado, medindo cerca de 3 milímetros de diâmetro, doloroso a palpação e sensível ao contato com líquidos em baixas temperaturas. Após biópsia incisional da lesão, o exame foi compatível com o aspecto histopatológico de Tumor Glômico, com a presença de vasos sanguíneos dilatados e circundados por pequenas células glômicas com núcleos ovalados, citoplasma eosinofílico e bordas regulares, o que permitiu o correto diagnóstico e o planejamento terapêutico. Até a conclusão do trabalho, o paciente não havia realizado a remoção cirúrgica do tumor, porém não apresentou limitações ou queixas importantes. Conclusão: O estudo do caso do tumor glômico permitirá maior elucidação de novos casos, tendo em vista a raridade do tumor, o quadro clínico pouco específico e escassez de literatura disponível

Introduction: Glomus tumor is a rare mesenchymal neoplasm that comprises less than 2% of soft tissue tumors. It is a tumor with a benign clinical behavior, with a higher incidence in females, between the second and fourth decade of life. Objective: To present a clinical case of glomus tumor. Material and Method: Case report study. Report: 35-year-old man with a nodule on his right forearm for 5 years. It was a non-ulcerated, erythematous-brown nodule, measuring approximately 3 millimeters in diameter, painful on palpation and sensitive to contact with liquids at low temperatures. After incisional biopsy of the lesion, the examination was compatible with the histopathological appearance of Glomus Tumor, with the presence of dilated blood vessels surrounded by small glomus cells with oval nuclei, eosinophilic cytoplasm and regular borders, which allowed the correct diagnosis and planning therapeutic. Until the conclusion of the work, the patient had not undergone surgical removal of the tumor, but did not present any limitations or major complaints. Conclusion: The study of the glomus tumor case will allow greater elucidation of new cases, given the rarity of the tumor, the non-specific clinical picture and the scarcity of available literature

Introducción: El tumor glómico es una neoplasia mesenquimatosa rara que comprende menos del 2% de los tumores de tejidos blandos. Es un tumor de comportamiento clínico benigno, con mayor incidencia en el sexo femenino, entre la segunda y cuarta década de la vida. Objetivo: Presentar un caso clínico de tumor glómico. Material y Método: Estudio de caso clínico. Informe: Hombre de 35 años con nódulo en antebrazo derecho desde hace 5 años. Se trata de un nódulo de color marrón eritematoso, no ulcerado, de aproximadamente 3 milímetros de diámetro, doloroso a la palpación y sensible al contacto con líquidos a bajas temperaturas. Luego de la biopsia incisional de la lesión, el examen fue compatible con el aspecto histopatológico de Tumor Glómico, con presencia de vasos sanguíneos dilatados rodeados de pequeñas células glómicas con núcleos ovalados, citoplasma eosinofílico y bordes regulares, lo que permitió el correcto diagnóstico y planificación terapéutica. Hasta la conclusión del trabajo, el paciente no había sido sometido a extirpación quirúrgica del tumor, pero no presentaba limitaciones ni quejas importantes. Conclusión: El estudio del caso de tumor glómico permitirá un mayor esclarecimiento de nuevos casos, dada la rareza del tumor, el cuadro clínico inespecífico y la escasez de literatura disponible

Tumor glómico del espacio masticatorio que imita patología mandibular / Glomus tumour of the masticatory space mimicking oral mandibular pathology

El tumor glómico es una neoplasia mesenquimal derivada de la célula muscular lisa modificada del aparato glómico. Solo se han descrito 39 casos en la cavidad oral. Una mujer de 32 años presentó dolor intenso e hipoestesia en el área del nervio mandibular. El examen físico oral reveló un abultamiento suave sensible a la palpación. La ortopantomografía mostró una imagen radiolúcida y bien definida en la rama mandibular que sugiere un trastorno óseo. Sin embargo, el TC y el angio-TC mostraron una lesión hipervascular en el espacio masticatorio derecho. Se optó por un abordaje quirúrgico intraoral de la lesión. El análisis histopatológico mostró una positividad difusa y fuerte para la vimentina. La actina del músculo liso, la actina específica del músculo y la cadena pesada de miosina del músculo liso también fueron positivas, pero la inmunorreactividad para los marcadores varió en extensión e intensidad entre las diferentes áreas tumorales. Calponina mostró inmunotinción focal y débil. El índice de proliferación (Ki67-MIB1) fue inferior al 1 %.Basado en estos hallazgos morfológicos e inmunohistoquímicos, el tumor se diagnosticó como un tumor glómico (tipo sólido). Esta primera descripción de un tumor glómico en el espacio masticatorio nos hace incluirlo en el diagnóstico diferencial de las neoplasias en esta área. (AU)

Glomus tumour is a mesenchymal neoplasm from modified smooth muscle cell of the glomus apparatus. Only 39 cases have been reported in the oral cavity. A 32-year-old female presented with intense pain and hypoaestesia in the mandibular nerve area. Oral physical examination revealed a soft bulging tender to palpation. Orthopantomography showed a radiolucent, well-defined image in the mandibular ramus suggesting an osseous disorder. However, CT and angio-CT showed a hypervascular lesion in the right masticatory space. An intraoral surgical approach to the lesion was chosen. Histopathological analysis showed diffuse and strong positivity for vimentin. Smooth muscle actin, muscle specific actin, and smooth muscle myosin heavy-chain were also positive, but immunoreactivity for markers varied in extension and intensity between different tumour areas. Calponin showed focal and weak immunostaning. Proliferation index (Ki67-MIB1) was less than 1 %.Based on these morphological and immunohistochemical findings, the tumour was diagnosed as a glomus tumour (solid type). This first description of a glomus tumour in the masticatory space makes us include it in the differential diagnosis of neoplasms in this area. (AU)

Tumor glómico del septum nasal / Glomic tumor of the nasal septum

Presentamos el caso clínico de una mujer de 58 años que consulta por episodios de epis-taxis autolimitadas por fosa nasal derecha asociados a hipersensibilidad al manipular dicha fosa nasal. A la exploración se evidenció en el septum nasal una lesión mucosa nodular, de consistencia dura y aspecto violáceo. Se llevó a cabo exéresis de la misma por vía endonasal, con resultado histopatológico de tumor glómico (TG) del septum nasal. El TG es una neoplasia benigna perivascular, derivada de las células musculares lisas presentes en el cuerpo glómico; estructura con función termorreguladora, formada por un shunt entre arteriolas y vénulas, sin presencia de red capilar. Los cuerpos glómicos están presentes, mayoritariamente, en extremidades (lecho ungueal). Los tumores glómicos son, verdaderamente, excepcionales en el área ORL, existiendo sólo una treintena de casos publicados hasta la fecha a nivel nasosinusal. La mayoría de casos se presentan entre la 5ᵃ y 6ᵃ década de la vida y más, frecuentemente, en mujeres. Plantea diagnóstico diferencial, fundamentalmente, con dos entidades: el paraganglioma (con el que no debe ser confundido desde el punto de vista terminológico ni histológico), y con el tumor fibroso solitario (antiguo hemangiopericitoma). El comportamiento es benigno y el tratamiento es la cirugía

We present the clinical case of a 58-year-old woman who consulted for episodes of self-limited epistaxis in the right nostril associated with hypersensitivity to manipulation of this nostril. Examination revealed a nodular mucosal lesion in the nasal septum, with a hard consistency and purplish appearance. The lesion was excised endonasally, with histopatho-logical result of a glomus tumor (GT) of the nasal septum. The GT is a benign perivascular neoplasm, derived from smooth muscle cells present in the glomus body; structure with thermoregulatory function, formed by a shunt between arterioles and venules, without the presence of capillary network. Glomus bodies are mostly present in the extremities (nail bed). Glomus tumors are truly exceptional in the ENT area, with only about thirty cases published to date at the nasosinusal level. Most cases occur between the 5th and 6th decade of life and more frequently in women. It raises differential diagnosis fundamentally with two entities: paraganglioma (with which it should not be confused from the terminological or histological point of view) and with solitary fibrous tumor (former hemangiopericytoma). The behavior is benign and the treatment is surgery.

Presentación atípica de tumor glómico en vía aérea: reporte de caso y revisión de literatura / Atypical presentation of glomus tumor in the airway: Case report and literature review

Introducción. Los tumores glómicos provienen de los cuerpos glómicos, que son estructuras con función de termorregulación y se encuentran distribuidas por todo el cuerpo humano, principalmente a nivel distal de las extremidades, donde es común encontrar lesiones características, aunque hay reportes de casos que se presentaron como neoformación en localizaciones más inusuales. Su etiología aun es desconocida. No se sospechan en muchos pacientes y el diagnostico se realiza de manera incidental, por estudios imagenológicos o anatomopatológicos. Caso clínico. Paciente femenina de 66 años, con presencia de tumor glómico en vía aérea, diagnosticado por histopatología e inmunohistoquímica, que fue sometido a resección quirúrgica, con buena evolución posterior. Discusión. Esta presentación atípica de tumor glómico en vía aérea se manifiesta principalmente con síntomas y signos relacionados con obstrucción de la vía aérea. El manejo oportuno es primordial y el diagnóstico definitivo es por histopatología e inmunohistoquímica, donde se observan las características de las células glómicas, estructuras vasculares, músculo liso y la positividad en la inmunotinción de marcadores como actina del músculo liso, CD34, y actina específica del músculo, entre otras. Conclusión. Los tumores glómicos son neoformaciones benignas raras, con presentación más común en zonas distales. Su aparición depende de factores intrínsecos y extrínsecos de los pacientes. Su tasa de recidiva es muy baja en comparación de otros tumores

Introduction. Glomus tumors originate from glomus bodies, which are structures with thermoregulatory function and are distributed throughout the human body, mainly at the distal level of the extremities where it is common to find these characteristic lesions. Although, there are case reports of neoformation presentations with more unusual locations. Their etiology is still unknown. Many times when there is evidence of lesions in atypical areas they are not suspected in many patients and the diagnosis is made incidentally by imaging and/or anatomopathological studies. Clinical case. A 66-year-old female patient with the presence of a glomus tumor in the airway diagnosed by histopathology and immunohistochemistry, underwent surgical resection and presented good evolution after surgery. Discussion. This atypical presentation of glomus tumor in the airway presents mainly with symptoms and signs related to airway obstruction. Timely management is paramount in these patients, and the definitive diagnosis is by histopathology and immunohistochemistry where the presence of the characteristics of glomus cells, vascular structures, smooth muscle and immunostaining positivity towards some markers such as smooth muscle actin, CD34, muscle specific actin, among others, are seen. Conclusion. This type of tumors are rare benign neoformations, with common presentations in distal areas. Their appearance depends on intrinsic and extrinsic factors of the patients and their recurrence rate is very low compared to other tumors

Tumor glômico em região hipotenar: relato de caso / Glomic tumor in hypotenar region: case report / Tumor glómico en región hipotenar: reporte de caso

Introdução: O tumor glômico é um hamartoma benigno, geralmente único, que se desenvolve a partir de uma estrutura neuromioarterial, o glomo. É uma doença incomum na prática dermatológica, muito frequente nas polpas digitais. Com relação à epidemiologia, corresponde a cerca de 1 a 5% dos tumores de mão e 65% dos casos estão localizados embaixo das unhas. Mostra-se mais prevalente em mulheres e mais frequente na terceira e quinta décadas de vida. Foi evidenciada uma escassez de estudos sobre tumor glômico em região palmar, falta de informações nacionais e necessidade de destacar a importância clínica desse tema. Objetivo: Relatar o caso de uma paciente com tumor glômico e enfatizar as características clínicas e o tratamento recomendado. Método: O caso é de uma paciente sexo feminino, negra, 61 anos apresentando dor intensa e localizada na lesão em região hipotenar da mão esquerda há dois anos. Caracteriza a dor como perene, nega irradiação, melhora ao usar compressa fria e piora ao usar compressa quente. Fez uso de analgésicos e anti-inflamatórios, não obtendo sucesso na melhora clínica. A dor se tornou de caráter intermitente e houve uma intolerância gástrica à medicação utilizada. Resultados: A melhora do quadro se deu após recorrer ao dermatologista, o qual realizou uma pequena cirurgia de retirada da lesão, apontando o diagnóstico de tumor. Conclusão: Diferentemente desse relato, em que a lesão é palmar, a maioria dos casos desse tumor benigno possuem lesões subungueais e nos dedos.(AU)

Introduction: Glomus tumor is a benign hamartoma, usually single, that develops from a neuromyoarterial structure, the glomus. It is an uncommon disease in dermatological practice, very common in digital pulps. Regarding epidemiology, it corresponds to about 1 to 5% of hand tumors and 65% of cases are located under the nails. It is more prevalent in women and more frequent in the third and fifth decades of life. A lack of studies on glomus tumors in the palmar region, lack of national information and the need to highlight the clinical importance of this topic was evidenced. Objective: Aimed to report the case of a patient with a glomus tumor and emphasize the clinical features and recommended treatment. Method: The case is a female patient, black, 61 years old with severe pain located in the lesion in the hypothenar region of the left hand for two years. Characterizes pain as perennial, denies irradiation, improves when using a cold compress and worsens when using a hot compress. He used analgesics and antiinflammatory drugs, with no success in clinical improvement. The pain became intermittent and there was gastric intolerance to the medication used. The condition improved after resorting to a dermatologist, who performed a minor surgery to remove the lesion, indicating the diagnosis of glomus tumor. Conclusion: Unlike this report, in which the lesion is palmar, most cases of this benign tumor have subungual lesions and lesions on the fingers.(AU)

Introducción: El tumor glómico es un hamartoma benigno, generalmente único, que se desarrolla a partir de una estructura neuromioarterial, el glomus. Es una enfermedad poco común en la práctica dermatológica, muy común en las pulpas digitales. En cuanto a la epidemiología, corresponde al 1 al 5% de los tumores de mano y con 65% ubicado en la región subungueal. Es más prevalente en mujeres y más frecuente en la tercera y quinta décadas de vida. Se evidenció la falta de estudios sobre los tumores glómicos en la región palmar, la falta de información nacional y la necesidad de resaltar la importancia clínica de este tema. Objetivo: Reportar el caso de un paciente con tumor glómico y enfatizar las características clínicas y el tratamiento recomendado. Metodología: El caso es una paciente mujer, negra, 61 años con dolor severo localizado en la lesión en la región hipotenar de la mano izquierda desde hace dos años. Caracteriza el dolor como perenne, niega la irradiación, mejora cuando se usa una compresa fría y empeora cuando se usa una compresa caliente. Utilizó analgésicos y antiinflamatorios, sin éxito en la mejoría clínica. El dolor se volvió intermitente y hubo intolerancia gástrica a la medicación utilizada. La condición mejoró tras acudir a un dermatólogo, quien realizó una cirugía menor para extirpar la lesión, indicando el diagnóstico de tumor glómico. Conclusión: A diferencia de este informe, en el que la lesión es palmar, la mayoría de los casos de este tumor benigno tienen lesiones subungueales y lesiones en los dedos.(AU)

Glomus Carotideo Izquierdo

Resumen Los paragangliomas (cuerpo carotideo) son tumores benignos de alta vascularización ubicados en la región de los quimiorreceptores del cuerpo carotideo. Respecto a su localización, el glomus carotídeo, es del 0,01% en relación a los otros tumores de tipo paranganglioma, se observa con mayor incidencia en habitantes de lugares de altitud, más frecuente en sexo femenino. Clínicamente se presenta como una tumoración en región cervical de progresivo crecimiento, indoloro y con frémito. Dentro de los exámenes de gabinete auxiliares para diagnóstico, estan: la Ecografia Doppler, la Tomografía Axial Computarizada, la Resonancia Magnética y la Arteriografía. La técnica quirúrgica más frecuente para abordar este tumor es la disección subadventicial. Presentamos el caso clínico de una mujer de 57 años con tumor cervical, que fue intervenida quirúrgicamente, previo exámenes de laboratorio y gabinete, para la resección total del tumor y posterior estudio anatomo-patológico que reportó: paraganglioma de cuerpo carotideo.

Abstract Paragangliomas (carotid body) are benign tumors with high vascularization located in the region of the carotid body chemoreceptors. Regarding its location, the carotid glomus is 0.01% in relation to other paranganglioma type tumors, it is observed with higher incidence in high altitude populations, more frequent in females. Clinically it presents as a tumor in the cervical region of progressive growth, painless and with fremitus. Among the auxiliary tests for diagnosis are: Doppler Ultrasound, Computerized Axial Tomography, Magnetic Resonance Imaging and Arteriography. The most frequent surgical technique to address this tumor is subadventitial dissection. We present the clinical case of a 57-year-old woman with a cervical mass, who underwent surgery, after preliminary laboratory tests, for total resection with subsequent anatomo-pathological study that reported: paraganglioma of the carotid body.

Tumores gástricos peculiares: tumor glómico, schwannoma, leiomioma y cistoadenoma en el páncreas ectópico. Serie de casos y revisión de la literatura / Unusual gastric tumors: Glomus tumor, schwannoma, leiomyoma, and cystadenoma in ectopic pancreas. A case report and literature review

Resumen Introducción: la patología gástrica es excepcionalmente benigna, se registra a nivel mundial un porcentaje de aparición de las mismas del 0,005 %-4 %. Además de lo anterior, suele plantearse como primer diagnóstico diferencial un carcinoma gástrico, por lo que la mayoría de los pacientes termina en un procedimiento quirúrgico mayor. El objetivo de este estudio fue describir una serie de casos registrados en una institución de alta complejidad, así como la revisión de la literatura al respecto del tema. Pacientes y métodos: se realizó la revisión de las bases de datos del servicio de cirugía general de la Clínica Universitaria Colombia y se encontraron 4 tumores gástricos de presentación inusual, de los cuales se hizo revisión de la historia clínica y las imágenes disponibles (diagnósticas y de las piezas de cirugía). Resultados: en la revisión de la base de datos, se encontraron 4 casos, 2 de sexo femenino y 2 de sexo masculino, con una media de edad de 51 años (26-75 años). El 100 % de los pacientes tenía una lesión en la región antral y solo uno de ellos tenía una segunda lesión a nivel prepilórico. La totalidad de los pacientes fue llevada a gastrectomía subtotal con reconstrucción en Y de Roux por abordaje laparoscópico y la media de estancia hospitalaria fue de 3,5 días (2-6 días). Conclusión: para determinar la mejor opción de tratamiento en general en pacientes con lesiones gástricas siempre hay que considerar tanto las características endoscópicas y endosonográficas como las histológicas.

Abstract Introduction: Gastric pathology is exceptionally benign with a percentage of appearance between 0.005% - 4% worldwide. Moreover, gastric carcinoma is often suggested as the first differential diagnosis and for that reason, the outcome for a vast majority of admitted patients is a major surgical procedure. This study aims to describe a series of cases recorded in a high complexity medical institution and to carry out a literature review related to that subject. Patients and Methods: Databases from the general surgery service of the Clínica Universitaria Colombia were reviewed, and four unusual gastric tumors were found. A review of the related medical records and available images (diagnostic images and surgical elements) was performed. Results: After the database review, four cases were found: two female cases and two male cases, with a mean age of 51 years (26-75 years). All the patients had lesions in the antrum area and only one of them has an additional lesion in the prepyloric region. All patients were treated with a laparoscopic subtotal gastrectomy with Roux-en-Y reconstruction and the mean length of hospital stay was 3.5 days (2-6 days). Conclusion: It is required to consider the endoscopic, endosonographic, and histological examinations and their features to determine the best treatment for patients with gastric lesions.

Paraganglioma yugular bilateral: reporte de un caso y revisión de la literatura / Bilateral jugular paraganglioma: case report and review of the literature

Resumen El paraganglioma (PG) es una neoplasia infrecuente originada de las células paraganglionares, embriológicamente derivadas de la cresta neural. Se localizan en la cabeza, base de cráneo, cuello, mediastino, abdomen y pelvis. La mayor parte de los PG muestran un curso clínico benigno, sin embargo, algunos casos pueden mostrar un comportamiento biológico agresivo con invasión local y metástasis a distancia. Un avance significativo en patología molecular ha sido el reconocimiento que el 30%-40% de estas neoplasias presentan alteraciones genéticas. Se han descrito más de 45 genes involucrados, incluyendo mutaciones de la línea germinal succinato deshidrogenasa. Actualmente se recomienda hacer test genético a todos los portadores de PG incluyendo los de presentación esporádica. El PG más frecuente se ubica en la glándula suprarrenal llamado feocromocitoma. El diagnóstico definitivo se realiza con histología, sin embargo, el estudio imagenológico puede entregar una aproximación diagnóstica certera. Debido a la aceptación actual que todos los PG tienen potencial metastásico, el concepto de PG benigno y maligno ha cambiado a uno de estimación de riesgo de metástasis, aunque no existe un esquema único aceptado para tal efecto. El tratamiento considera la cirugía, la radioterapia, la observación y terapias combinadas. Dado el lento crecimiento de este tipo de neoplasia y las potenciales complicaciones de la terapia quirúrgica, la observación es una opción especialmente para pacientes añosos dejando las otras opciones para pacientes más jóvenes. En este trabajo se presenta un caso de paraganglioma yugular bilateral gigante tratado con radioterapia de intensidad modulada incluyendo una revisión bibliográfica pertinente.

Abstract Paraganglioma (PG) is a rare neoplasm derived from paraganglionic cells of the neural crest. They are located in the head, skull base, neck, mediastinum, abdomen and pelvis. Most PGs show a benign clinical course, however, some cases may show aggressive biological behavior with local invasion and distant metastasis. A significant advance in molecular pathology has been the recognition that 30%-40% of these neoplasms present genetic alterations; more than 45 genes have been described, including mutations of the germline succinate dehydrogenase. Currently it is recommended to make genetic test to all patients with PG, including sporadic presentation. The most frequent PG is located in the adrenal gland called pheochromocytoma. The definitive diagnosis is made with histology; however, the imaging study can provide an accurate diagnostic approach. It is now accepted that all PG have a metastatic potential, therefore the concept of benign or malignant has been changed to a metastasis risk stratification approach however no single scheme is been widely used. The treatment considers surgery, radiotherapy, observation and combination therapies. Given the slow growth of this type of neoplasia and the potential complications of surgical therapy, observation is an option especially for elderly patients leaving the other options for younger patients. In this work we present a case of giant bilateral jugular paraganglioma treated with intensity modulated radiation therapy, including a pertinent literature review.

Tumor glómico en mucosa bucal: reporte de caso / Tumor in oral mucosa: case report

El tumor glómico es una neoplasia vascular originada de las células del músculo liso del componente neuromioarterial, responsable del control del flujo sanguíneo microvascular. Representa el 1,6% de todos los tumores de tejidos blandos, localizándose principalmente en la zona subungüeal y clínicamente muy doloroso. Su diagnóstico puede ser tardío debido a su pequeño tamaño, manifestaciones clínicas inespecíficas y localizaciones anatómicas inusuales. El tratamiento principalmente es quirúrgico, el cual es curativo, permitiendo además la confirmación histopatológica. Se presenta el reporte de caso de una paciente de 13 años de edad con un tumor glómico de localización inusual en mucosa bucal.

The glomus tumor is a vascular neoplasm originating from smooth muscle cells of neuromyoarterial component, responsible for the control of microvascular blood flow. It represents 1.6% of all soft tissue tumors, being located mainly in the subungual area and clinically very painful. Diagnosis may be delayed because of their small size, nonspecific clinical manifestations and unusual anatomical locations. Treatment is primarily surgical, which is healing, also allowing the histopathologic confirmation. The case report of a 13-year-old patient with an unusual-located glomus tumor in the oral mucosa is presented.

Tumor glômico múltiplo em paciente com neurofibromatose tipo 1: relato de caso e revisão de literatura / Multiple glomus tumor in a patient with neurofibromatosis type 1: a case report and literature review

Neurofibromatose tipo I (NF1) é uma doença autossômica dominante, com incidência de 1/2.500-3.000 nascimentos e prevalência de aproximadamente 1/4.000-5.000 indivíduos; é causada por mutações genéticas no gene NF1, que afetam tecidos neurais e cutâneos. Tumor glômico é uma neoplasia benigna originada do glomo, uma estrutura neuromioatrial da pele presente nas pontas dos dedos e envolvida na termorregulação. São considerados historicamente tumores isolados esporádicos, porém existem estudos que comprovam sua relação com a neurofibromatose tipo I. Pacientes com neurofibromatose tipo 1 devem ser investigados. O relato de caso fornece suporte adicional à noção de que NF1 tem um risco associado a múltiplos tumores glômicos.

Neurofibromatosis type I (NF1) is an autosomal dominant disease, with an incidence of 1/2,500-3,000 births and a prevalence of approximately 1/4,000-5,000 individuals. Genetic mutations in the NF1 gene cause it, affecting neural and skin tissues. Glomus tumor is a benign neoplasm originating from the glomus, a neuromyoatrial structure of the skin present at the fingertips and involved in thermoregulation. The literature historically considered these tumors isolated and sporadic, but some studies have proved a relationship with neurofibromatosis type I. Thus, patients with neurofibromatosis type 1 should be investigated. The case report provides additional support for the notion that NF1 has a risk associated with multiple glomus tumors.

Glomus tumor in the abdominal wall / Tumor glômico de parede abdominal

ABSTRACT The glomus tumor is a rare benign soft tissue tumor. We report a case of a 45-year-old male patient who presented with a painful mass in the abdominal wall. The patient underwent total tumor resection and the anatomical pathology diagnosis was of glomus tumor. The glomus tumor presents differential diagnosis of carcinoid tumor, hemangiopericytoma and vascular leiomyoma.

RESUMEN El tumor glómico es un tumor raro y benigno de tejidos blandos. Se presenta el caso de un paciente de 45 anos, con el hallazgo de un nódulo doloroso en la pared abdominal. Se realizó una resección completa de la lesión y el diagnóstico por anatomia patológica fue de tumor glómico. El diagnóstico diferencial del tumor glómico se plantea con tumor carcinoide, hemangiopericitoma y leiomioma vascular.

RESUMO O tumor glômico é um tumor raro e benigno de tecidos moles. Relatamos o caso de um paciente do sexo masculino, 45 anos, que apresentava nódulo doloroso na parede abdominal. Foi realizada a ressecção total do tumor; o diagnóstico anatomopatológico foi de tumor glômico. Este apresenta diagnóstico diferencial, com tumor carcinoide, hemangiopericitoma e leiomioma vascular.

Tumor de corpo carotídeo em jovem adolescente com pré-síncope / Carotid body tumor in teenager with pre-syncope

O tumor do corpo carotídeo (TCC) é uma neoplasia rara, mas entre os paragangliomas é o mais freqüente, com incidência de 1: 1.170.000. Desenvolve-se na adventícia do vaso, próximo à bifurcação carotídea, afetando principalmente indivíduos entre a quarta e a quinta décadas de vida. É um tumor de crescimento lento, geralmente benigno e unilateral, e 10% deles são familiares. Em cerca de 5% dos casos, a lesão é bilateral, atingindo 32% se autossômica dominante. Podem ser assintomáticos até se manifestarem como uma massa cervical pulsante, de crescimento lento, indolor, na região lateral do pescoço, próximo ao ângulo da mandíbula. A TCC pode causar rouquidão e dificuldade de deglutição por compressão extrínseca e também síndrome do corpo carotídeo hipersensível (SCCHS). Esta síndrome é conseqüência da hiperestimulação dos barorreceptores, causando hipotensão postural, acompanhada de diaforese, pré-síncope ou síncope. Neste relato descrevemos uma paciente de 17 anos com TCC familiar e SCCHS, diagnosticada e tratada com sucesso, evoluindo sem seqüelas e assintomática. (AU)

Carotid body tumor (CBT) is a rare neoplasm, but among paragangliomas it is the most frequent, with an incidence of 1: 1,170,000. It develops in the adventitia of the vessel, near the carotid bifurcation, affecting mainly individuals between the fourth and fifth decades of life. It is a slow-growing tumor, usually benign and unilateral, and 10% of them are familial. In about 5% of the cases, the lesion is bilateral, reaching 32% if it is autosomal dominant. They may be asymptomatic until they manifest as a slowly growing, painless, pulsatile cervical mass in the lateral region of the neck, near the angle of the mandible. CBT can cause hoarseness and difficulty of swallowing by extrinsic compression and also hypersensitive carotid body syndrome (SCCHS). This syndrome is a consequence of hyperstimulation of the baroreceptors, causing postural hypotension, accompanied by diaphoresis, pre-syncope or syncope. In this case report we describe a 17-year-old patient with familial CBT and SCCHS, diagnosed and treated successfully, evolving without sequelae and asymptomatic. (AU)

Glomangiopericitoma: reporte de un caso / Glomangiopericytoma: a case report

El glomangiopericitoma es un tumor nasosinusal extremadamente raro, más frecuente en pacientes de edad avanzada y en mujeres. Si bien su etiopatogenia es desconocida, se reconocen ciertos factores predisponentes tales como hipertensión arterial, embarazo, trauma y uso de corticoides. Para su diagnóstico, resulta necesario recurrir tanto a estudio por imágenes como a la histología y técnicas de inmunohistoquímica. Microscópicamente se caracteriza por un prominente crecimiento perivascular de células uniformes ovales o fusiformes, dispuestas en fascículos cortos intercalados con capilares de diámetros variables ramificados en "asta de ciervo" y presenta inmuno-rreactividad positiva para actina, factor XIII-A y vimentina principalmente. Clínicamente este tumor presenta un comportamiento generalmente benigno, pero con una elevada tasa de recurrencia. Presentamos el caso de una mujer de 71 años, con antecedentes de hipertensión arterial, que acudió a nuestro centro por rinorrea purulenta y epistaxis unilateral derecha de 5 años de evolución. Al examen se observa masa polipoidea en fosa nasal derecha con abundante vascularización, sin otros hallazgos al examen físico. La lesión es resecada en su totalidad mediante cirugía endoscópica. El estudio histológico e inmunohistoquímico son compatibles con glomangiopericitoma. La paciente evoluciona con remisión de su sintomatología y a los dos meses desde la resección no ha presentado evidencias de recurrencia.

Glomangiopericytoma is an extremely rare sinonasal tumor, more common among elderly and women. Although its etiology and pathogeny are unknown, there are certain predisposing factors, such as arterial hypertension, pregnancy, trauma and corticosteroids. To diagnose this tumor, it is necessary imaging, histopathologic and inmunohistochemical studies. At the microscopic study, it is characterized by a prominent perivascular growth of oval-shaped or fusiform cells, arranged in short fascicles separated by capillary vessels of variable diameters, with staghorn-like ramifications, and lmmunohistochemistry positive mainly for actin, XIII-A factor and vimentin. Clinically, this tumor has a generally benign behavior, but with high recurrence percentage. We present the case of a 71 years old woman, with history of hypertension, who present in our center with a 5 years history of purulent rhinorrhea and right unilateral epistaxis, at the physical exam there is a polypoid mass in the right nasal fossa with rich vascularization, with no other findings. This tumor was resected entirely with endoscopic surgery. Histology and immunohistochemistry were compatible witch gomangiopericytoma. The patient evolve with remission of her symptoms and with no signs of recurrence at two-month follow-up.

An Update on Neurofibromatosis Type 1: Not Just Café-au-Lait Spots and Freckling. Part II. Other Skin Manifestations Characteristic of NF1. NF1 and Cancer. / Neurofibromatosis tipo 1: más que manchas café con leche, efélides y neurofibromas. Parte II. Actualización sobre otras manifestaciones cutáneas características de la enfermedad. NF1 y cáncer.

Neurofibromatosis type 1 (NF1) is the most common neurocutaneous syndrome and probably the one best known to dermatologists. Although the genetic locus of NF1 was identified on chromosome 17 in 1987, diagnosis of the disease is still based primarily on clinical observations. The 7 diagnostic criteria of the National Institutes of Health, which were established in 1988, include 3 skin manifestations (café-au-lait spots, freckling on flexural areas, and cutaneous neurofibromas). The age at which these diagnostic lesions appear is variable: onset can be late in some patients while others never develop certain symptoms. Definitive diagnosis may therefore be delayed by years. Although the appearance of the characteristic café-au-lait spots and freckling in the early years of childhood are very suggestive of the disease, these signs are not pathognomonic and, in isolation, do not constitute sufficient evidence to establish a definitive diagnosis. Thus, other diagnoses should be considered in patients whose only symptoms are café-au-lait spots and freckling. By contrast, the presence of multiple cutaneous neurofibromas or at least 1 plexiform neurofibroma is a very specific indication of NF1. Identification of the different types of neurofibroma allows us to confirm the diagnosis and initiate appropriate management.

Estudo retrospectivo clinicoepidemiológico dos tumores glômicos diagnosticados ao longo de 16 anos em unidade de referência / Clinical epidemiological retrospective study of glomus tumors diagnosed over 16 years in a reference unit

Introdução: O tumor glômico é neoplasia benigna e rara que se apresenta como nódulo solitário e doloroso de localização principalmente subungueal. Apresenta manifestações clínicas características como dor paroxística e sensibilidade à pressão local e ao frio. Objetivo: Realizar levantamento clinicoepidemiológico dos tumores glômicos diagnosticados em unidade de referência em 16 anos. Métodos: Estudo retrospectivo analisando dados clínicos e epidemiológicos de 15 pacientes com diagnóstico de tumor glômico confirmado pelo laudo histopatológico no período de 2000 a 2016. Foram avaliados dados como idade, sexo, localização do tumor, sintomas associados, duração dos sintomas até o diagnóstico, apresentação clínica, tipo histológico e recidiva após a cirurgia. Resultados: Foram diagnosticados 15 casos, em 11 mulheres (73,3%) e quatro homens (26,7%). A média de idade foi 63 anos. A localização mais frequente foi a região subungueal. O tempo médio da duração dos sintomas até o diagnóstico foi de oito anos. Conclusões: Neste estudo, o número de casos de tumor glômico oscilou ao longo desses 16 anos, com média de 0,9 caso/ano. Observou-se maior prevalência em mulheres com mais de 60 anos, na região subungueal e do subtipo histológico glômico sólido.

Introduction: Glomus tumor is a benign and rare neoplasm that appears as solitary and painful nodule, mainly subungual. It presents characteristic clinical manifestations such as paroxysmal pain and sensitivity to local pressure and to cold. Objective: To conduct a clinical epidemiological survey of glomus tumors diagnosed in a reference unit in 16 years. Methods: Retrospective study assessing clinical and epidemiological data of 15 patients with glomus tumor confirmed by histopathological report from 2000 to 2016. Data on age, gender, tumor location, associated symptoms, duration of symptoms until diagnosis, clinical presentation, histological type and recurrence after surgery were analysed. Results: Fifteen cases were diagnosed, 11 in women (73.3%) and four in men (26.7%). Mean age was 63 years. The most frequent location was the subungual region. Mean duration of symptoms until diagnosis was 8 years. Conclusions: In this study, the number of cases of glomus tumor fluctuated throughout these 16 years, with a mean of 0.9 cases/year. A higher prevalence in women over 60 years, subungual region location and solid glomus histologic subtype was observed.

[Glomus tumour of the lung: a case report and literature review]. / Tumor glómico en pulmón: reporte de un caso y revisión bibliográfica.

BACKGROUND: Glomus tumours are neoplasms arising from cells of the neuromyoarterial glomus bodies, which almost always occur in a subungual location. A lung location is extremely rare, with few cases reported in the literature. CLINICAL CASE: The case is presented of a 33 year-old male, with non-productive cough, dyspnoea at rest, intermittent fever, and mild pain in rib cage. A chest radiograph showed a consolidation in the left lung, and computed tomography revealed a lesion in the hilum that extended to the bronchus of the lingula obstructing, and causing post-obstructive pneumonia. A biopsy was obtained by rigid bronchoscopy biopsy, which showed a well circumscribed tumour constituted by intermediate-sized cells, and abundant cytoplasm that are arranged in a pattern surrounding numerous thin-walled blood vessels, with no pleomorphism, significant mitotic activity or necrosis. Immunohistochemistry revealed diffuse positivity with smooth muscle actin, vimentin, caldesmon; focal reactivity with desmin and CD117, CD34 highlights the vascular pattern. Ki67 proliferation rate was 1%. Synaptophysin, EMA and cytokeratin cocktail were negative, making the diagnosis of glomus tumour. CONCLUSIONS: Glomus tumours are rare neoplasms that usually appear in the dermis and subcutaneous tissue, where it is common to find glomus bodies. Occasionally glomus tumours can occur in extra-cutaneous sites such as the gastrointestinal tract, bone and respiratory system, with this case being a new case of rare lung location.