RESUMO
BACKGROUND: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant genodermatosis characterized by benign growth of the hair follicles, the presence of pulmonary cysts, spontaneous pneumothorax, and bilateral renal tumors that are usually hybrid oncocytic or multifocal chromophobe renal cell carcinoma. The diagnosis is confirmed by the presence of a pathogenic variant in the tumor suppressor folliculin (FLCN) gene mapped at 17p11.2. Although the dermatological lesions typical of BHDS are benign and only cause aesthetic concerns, and the pulmonary manifestations are controllable, the greater tendency of patients with this syndrome to present benign or malignant renal tumors, often bilateral and multifocal, makes the diagnosis of this syndrome important for the prognosis of the patients. The objective was to report the case of a patient with BHDS, without pulmonary manifestations and with hyperplastic polyposis of the gastrointestinal tract, and to perform a literature review. CASE PRESENTATION: A 60-year-old man complained of abdominal pain and diarrhoea for 2 months. Physical examination was normal except for the presence of normochromic papules in the frontal region of the face associated with hyperkeratotic and hyperchromic papules in the dorsal region. The excisional biopsies of the skin lesions indicated trichodiscomas. Esophagogastroduodenoscopy, enteroscopy, and colonoscopy showed the presence of hyperplastic polyps in the stomach, duodenum, jejunum, colon, and rectum. Computed tomography (CT) and magnetic resonance imaging (MRI) of the abdomen revealed multiple expansive solid lesions in both kidneys, with necrotic and calcified areas. Renal magnetic resonance angiography also showed a solid lesion in the right kidney measuring 5 cm in diameter and another solid lesion in the left kidney measuring 8 cm in diameter, both suggestive of renal angiomyolipoma. CT scans of the skull, chest, and temporal bones were normal. The genetic study revealed the presence of a variant of FLCN in the intron 13. CONCLUSIONS: To the best of our knowledge, this is the first reported case of BHDS with the simultaneous finding of gastrointestinal hyperplastic polyposis, which may represent a possible phenotypic expression of this syndrome that has not yet been described.
Assuntos
Síndrome de Birt-Hogg-Dubé/complicações , Neoplasias Gastrointestinais/complicações , Trato Gastrointestinal/patologia , Pólipos/complicações , Síndrome de Birt-Hogg-Dubé/diagnóstico , Síndrome de Birt-Hogg-Dubé/genética , Diagnóstico Diferencial , Neoplasias Gastrointestinais/diagnóstico , Neoplasias Gastrointestinais/genética , Humanos , Hiperplasia/complicações , Hiperplasia/diagnóstico , Hiperplasia/genética , Pólipos Intestinais/complicações , Pólipos Intestinais/diagnóstico , Pólipos Intestinais/genética , Masculino , Pessoa de Meia-Idade , Neoplasias Primárias Múltiplas/diagnóstico , Neoplasias Primárias Múltiplas/genética , Pólipos/diagnóstico , Pólipos/genética , Proteínas Proto-Oncogênicas/genética , Proteínas Supressoras de Tumor/genéticaRESUMO
Introducción: Los pólipos gástricos adenomatosos son poco frecuentes y generalmente se encuentran en el examen endoscópico de rutina. La intususcepción gastroduodenal es una complicación poco frecuente de los pólipos gástricos y ha sido raramente descrita como una causa de pancreatitis aguda. Caso clínico: Presentamos el caso de un varón de 68 años el cual ingresa de urgencia con dolor abdominal, náuseas y vómitos catalogados en un inicio como pancreatitis aguda de etiología biliar; incidentalmente se descubre un pólipo gástrico pediculado intususceptado a duodeno como causa de la pancreatitis aguda. Se realizó tratamiento endoscópico de urgencia y tratamiento definitivo con cirugía abierta.
Introduction: Adenomatous gastric polyps are uncommon and are usually found in the routine endoscopic examination. Gastroduodenal intussusception is a rare complication of those gastric polyps and has rarely been described as a cause of acute pancreatitis. Case report: We present the case of a 68 year old man who admitted to emergency with abdominal pain, nausea and vomiting initially classified as acute biliary pancreatitis etiology; a pedunculated gastric polyp intussuscepted into duodenum as a cause of acute pancreatitis was incidentally discovered, emergency endoscopic treatment and definitive treatment with open surgery was performed.
Assuntos
Humanos , Masculino , Idoso , Intussuscepção/complicações , Pancreatite/etiologia , Doença Aguda , Pólipos Intestinais/complicações , Intussuscepção/diagnóstico por imagem , Intussuscepção/cirurgia , Pancreatite/diagnóstico por imagem , Neoplasias Gástricas/complicaçõesRESUMO
La intususcepción en un adulto debe hacer sospechar un tumor (benigno o potencialmente riesgoso); el diagnóstico certero es crucial para el tratamiento adecuado del paciente1. Alrededor del 90% de estos casos se dan en el intestino delgado y colon, el 10% restante se originan en el estómago y en estomas creados quirúrgicamente2. En los adultos, aproximadamente 90% de los casos de intususcepción son secundarios a una lesión definible3. El tumor de Vanek o pólipo fibroide inflamatorio, se conoce como una lesión benigna, rara, de localización submucosa, no encapsulada, cuya ubicación puede darse a lo largo del tracto digestivo, siendo más común en el antro gástrico (80 %), aunque también se ha descrito en la unión gastroesofágica, duodeno, yeyuno, íleon y colon4.
Intussusception in an adult must make us suspect the presence of a tumor (benign or potentially dangerous) as the most frequent cause. Accurate diagnosis is of great importance in order to provide appropriate treatment and improve patient prognosis1. About 90% of these cases occur in the small intestine and colon, and the remaining 10% originate in the stomach and surgically created ostomas2. In adults, approximately 90% of cases of intussusception are secondary to a definable lesión3. The Vanek's tumor or inflammatory fibroid polyp (IFP) is a rare benign lesion of submucosal location, not encapsulated, that may be located throughout the digestive tract, being more common in the gastric antrum (80%), although it has also been described in the gastroesophageal junction, duodenum, jejunum, ileum and colon4.
Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Neoplasias Gástricas/complicações , Pólipos Intestinais/complicações , Intestino Delgado , Intussuscepção/etiologia , Obstrução da Saída Gástrica/etiologia , Inflamação/complicações , Intussuscepção/cirurgia , Intussuscepção/diagnósticoRESUMO
Peutz-Jeghers Syndrome (PJS) is an autosomal dominant intestinal polyposis syndrome characterised by the presence of hamartomatous polyps and mucocutaneous pigmentation. Prolapse of the polyps through the anus is an infrequent manifestation in children with PJS, and this complication is extremely rare in adult patients. We report the case of a 30-year-old man recently diagnosed with PJS who was seen at the emergency department because of the abrupt onset of severe anal pain with a foreign body sensation in the anal canal and rectal bleeding.Physical examination revealed a giant prolapsed polyp.
Assuntos
Pólipos Intestinais/complicações , Síndrome de Peutz-Jeghers/complicações , Prolapso Retal/complicações , Adulto , Catárticos/uso terapêutico , Diagnóstico Diferencial , Humanos , Pólipos Intestinais/tratamento farmacológico , Masculino , Psyllium/uso terapêutico , Prolapso Retal/tratamento farmacológicoRESUMO
BACKGROUND: Inflammatory fibroid polyp (lFP) is a rare, benign, and solitary neoplasm predominantly located in the gastric antrum and small bowel. Its clinical symptoms are heterogeneous and essentially depend on the location and size of the tumor. Definitive diagnosis is made through histopathology and this pathology has excellent long-term prognosis. AIM: To identify the cases of IFP seen at the Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán over a 10-year period. METHODS: A retrospective, cross-sectional, descriptive, and observational study was conducted that included patients with histopathologic diagnosis of IFP within the time frame of January 2001 and December 2011. RESULTS: Six cases were found and 5/6 (83.3%) of them were women. The median age was 41 years (minimum-maximum range of 19-56 years). The most frequent symptoms were weight loss (n=3), fever (n=2), nausea (n=2), and vomiting (n=2). Three patients presented with iron deficiency anemia and 2 cases with intussusception. The IFPs were located at the following sites: esophagus (n=1), stomach (n=2), small bowel (n=2), and colon (n=1). Treatment was surgical in 5/6 (83.3%) of the patients. CONCLUSIONS: IFPs are extremely rare in our population. They usually present with weight loss and iron deficiency anemia and are more frequently located in the stomach and small bowel. This is the largest reported IFP case series in a Mexican population.
Assuntos
Pólipos Intestinais/patologia , Leiomioma/patologia , Adulto , Estudos Transversais , Doenças do Esôfago/complicações , Doenças do Esôfago/patologia , Doenças do Esôfago/cirurgia , Feminino , Humanos , Pólipos Intestinais/complicações , Pólipos Intestinais/cirurgia , Leiomioma/complicações , Leiomioma/cirurgia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Estômago/patologia , Estômago/cirurgia , Adulto JovemRESUMO
The inflammatory fibroid polyp or Vanek's tumor is a benign polypoid lesion that can be found in any section of the digestive tract. It is most frequently located in the stomach and when found in this organ, the symptoms include upper gastrointestinal bleeding (often silent), anemia and melena. The case described below, on the contrary, presents a gastric inflammatory fibroid polyp which developed acute upper gastrointestinal bleeding and required surgical treatment.
Assuntos
Hemorragia Gastrointestinal/etiologia , Tumores do Estroma Gastrointestinal/complicações , Pólipos Intestinais/complicações , Idoso , Feminino , Tumores do Estroma Gastrointestinal/diagnóstico por imagem , Tumores do Estroma Gastrointestinal/patologia , Humanos , Pólipos Intestinais/diagnóstico por imagem , Pólipos Intestinais/patologiaRESUMO
Brunner's gland adenoma is a rare neoplasm that accounts for only the 0.008% of all benign duodenal tumors. Here we describe the case ofan HIV-seropositive man who developed a severe pyloric stenosis due to a Brunner's adenoma of the bulb and the first duodenal portion. Gastroduodenoscopy showed a large polypoid tumor that obstructed the pyloric region. The lesion was resected by surgery and a gastroduodenal anastomosis was made. The histopathologic examination of the surgical specimen showed a large proliferation of Brunner's glands into a large pedunculated polyp that confirmed the diagnosis of this hamartoma.
Assuntos
Síndrome da Imunodeficiência Adquirida/complicações , Pólipos Adenomatosos/patologia , Glândulas Duodenais , Hamartoma/patologia , Estenose Pilórica/etiologia , Pólipos Adenomatosos/complicações , Adulto , Hamartoma/complicações , Humanos , Pólipos Intestinais/complicações , Masculino , Doenças RarasRESUMO
Inflammatory fibroid polyps are non-frequent benign lesions, described by Vanek in 1949, originated in the sub mucosa of the gastrointestinal tract. They have an uncertain origin and they are formed of fibroblastic and mesenchymal proliferations with an important eosinophilic proportion. Depending on where are they localized, could present different type of symptoms. The inflammatory fibroid polyps are one of the rare benign conditions causing intestinal intussusception in adults. We present the case of a 82 years old woman, who presented an intestinal intussusception due to an inflammatory fibroid polyp localized in the small bowel.
Assuntos
Neoplasias Intestinais , Pólipos Intestinais , Intestino Delgado , Intussuscepção , Idoso de 80 Anos ou mais , Enterite/patologia , Feminino , Humanos , Neoplasias Intestinais/complicações , Neoplasias Intestinais/patologia , Pólipos Intestinais/complicações , Pólipos Intestinais/patologia , Intestino Delgado/patologia , Intussuscepção/etiologia , Intussuscepção/patologia , Resultado do Tratamento , Carga TumoralRESUMO
El pólipo fibroide inflamatorio es un tumor benigno poco frecuente del tubo digestivo, descripto por Vanek en 1949. Son lesiones de etiología desconocida, originadas en la submucosa. Están formadas por células mononucleares y mesenquimatosas con citoplasma fusocelular, con una importante proporción de eosinófilos. Sus síntomas son variables, dependiendo de su localización, y son una r ara causa de intususcepción intestinal en adultos. Presentamos el caso de una mujer de 82 años, que sufrió una rara intususcepción de intestino delgado, originada en un pólipo fibroide inflamatorio.
Inflammatory fibroid polyps are non-frequent benign lesions, described by Vanek in 1949, originated in the sub mucosa of the gastrointestinal tract. They have an uncertain origin and they are formed of fibroblastic and mesenchymal proliferations with an important eosinophilic proportion. Depending on where are they localized, could present different type of symptoms. The inflammatory fibroid polyps are one of the rare benign conditions causing intestinal intussusception in adults.We present the case of a 82 years old woman, who presented an intestinal intussusception due to an inflammatory fibroid polyp localized in the small bowel.
Assuntos
Idoso de 80 Anos ou mais , Feminino , Humanos , Neoplasias Intestinais , Pólipos Intestinais , Intestino Delgado , Intussuscepção , Enterite/patologia , Neoplasias Intestinais/complicações , Neoplasias Intestinais/patologia , Pólipos Intestinais/complicações , Pólipos Intestinais/patologia , Intestino Delgado/patologia , Intussuscepção/etiologia , Intussuscepção/patologia , Resultado do Tratamento , Carga TumoralRESUMO
El pólipo fibroide inflamatorio es un tumor benigno poco frecuente del tubo digestivo, descripto por Vanek en 1949. Son lesiones de etiología desconocida, originadas en la submucosa. Están formadas por células mononucleares y mesenquimatosas con citoplasma fusocelular, con una importante proporción de eosinófilos. Sus síntomas son variables, dependiendo de su localización, y son una r ara causa de intususcepción intestinal en adultos. Presentamos el caso de una mujer de 82 años, que sufrió una rara intususcepción de intestino delgado, originada en un pólipo fibroide inflamatorio.(AU)
Inflammatory fibroid polyps are non-frequent benign lesions, described by Vanek in 1949, originated in the sub mucosa of the gastrointestinal tract. They have an uncertain origin and they are formed of fibroblastic and mesenchymal proliferations with an important eosinophilic proportion. Depending on where are they localized, could present different type of symptoms. The inflammatory fibroid polyps are one of the rare benign conditions causing intestinal intussusception in adults.We present the case of a 82 years old woman, who presented an intestinal intussusception due to an inflammatory fibroid polyp localized in the small bowel.(AU)