Assuntos
Telangiectasia Hemorrágica Hereditária , Humanos , Telangiectasia Hemorrágica Hereditária/complicações , Telangiectasia Hemorrágica Hereditária/diagnóstico , Polipose Intestinal/congênito , Polipose Intestinal/diagnóstico , Polipose Intestinal/complicações , Polipose Intestinal/genética , Malformações Arteriovenosas Intracranianas/complicações , Malformações Arteriovenosas Intracranianas/diagnóstico por imagem , Síndromes Neoplásicas Hereditárias/complicações , Síndromes Neoplásicas Hereditárias/genética , Síndromes Neoplásicas Hereditárias/diagnóstico por imagem , Síndromes Neoplásicas Hereditárias/diagnóstico , Adulto , Masculino , Feminino , Angiografia CerebralRESUMO
BACKGROUND: Cronkhite-Canada syndrome (CCS) is a rare, noninherited disease characterized by gastrointestinal polyposis with diarrhea and ectodermal abnormalities. CCS polyps are distributed through the whole digestive tract, and they are common in the stomach and colon but very uncommon in the esophagus. CASE SUMMARY: Here, we present a case of a 63-year-old man with skin hyperpigmentation accompanied by diarrhea, alopecia, and loss of his fingernails. Laboratory data indicated anemia, hypoalbuminemia, hypocalcemia, hypokalemia, and positive fecal occult blood. Endoscopy showed numerous polyps scattered throughout the digestive tract, including the esophagus. He was treated with nutritional support and glucocorticoids with remission of his symptoms. CONCLUSION: Comprehensive treatment led by hormonal therapy can result in partial or full remission of clinical symptoms. Treatment should be individualized for each patient according to their therapy response. Surveillance endoscopy is necessary for assessing mucosal disease activity and detecting malignant transformation.
Assuntos
Endoscopia Gastrointestinal , Polipose Intestinal , Masculino , Humanos , Pessoa de Meia-Idade , Endoscopia Gastrointestinal/efeitos adversos , Glucocorticoides/uso terapêutico , Esôfago/patologia , Polipose Intestinal/complicações , Polipose Intestinal/diagnóstico , Polipose Intestinal/terapia , Diarreia/etiologiaRESUMO
Cronkhite-Canada syndrome(CCS)is a rare non-inherited disease characterized by gastrointestinal polyposis and ectodermal abnormalities. We report a rare case of CCS associated with gastric cancer and gastric outlet obstruction with a review of the literature. A 75-year-old man was admitted because of frequent vomiting and hypoproteinemia. He was diagnosed with CCS due to typical clinical and laboratory findings including alopecia, nail atrophy, hypoproteinemia, and typical gastrointestinal polyposis. Upper endoscopic examination also pointed out a large gastric cancer mainly located in the antrum and the reversible pyloric obstruction caused by the gastric tumor. Biopsy of the tumor revealed tubular adenocarcinoma. Computed tomography demonstrated the dilated duodenum caused by packing of the gastric tumor. 1.5 months after prednisolone therapy, he underwent total gastrectomy with complete resection of the dilated duodenal bulb. Histological examination revealed gastric cancer(pap>tub1)classified into Stage â ¢C. Postoperative course was uneventful and he moved to another hospital. To our knowledge, including the present case, there were 20 reported cases of CCS associated with gastric cancer from Japan(1979-2022). Also, 7 cases of CCS associated with gastric outlet obstruction was reported.
Assuntos
Obstrução da Saída Gástrica , Hipoproteinemia , Polipose Intestinal , Estenose Pilórica , Neoplasias Gástricas , Masculino , Humanos , Idoso , Neoplasias Gástricas/complicações , Neoplasias Gástricas/cirurgia , Neoplasias Gástricas/diagnóstico , Obstrução da Saída Gástrica/etiologia , Obstrução da Saída Gástrica/cirurgia , Polipose Intestinal/complicações , Polipose Intestinal/diagnóstico , Polipose Intestinal/patologiaRESUMO
Antecedentes: la poliposis hiperplásica es una enfermedad esporádica, con bases genéticas poco conocidas, que se manifiesta usualmente alrededor de los 50 años de edad. Posee un riesgo aumentado para el cáncer colorrectal, el cual ha sido citado de hasta un 50 % en diferentes series de la literatura. En su patogénesis ha sido implicada la secuencia pólipo hiperplásico-adenoma serrato-cáncer colorrectal. Objetivo: presentar un caso clínico y realizar una revisión bibliográfica del tema, especialmente en relación con su pesquisa y manejo. Lugar de realización: Institución pública. Población: un paciente de 54 años de edad evaluado y tratado por cáncer de recto y poliposis hiperplásica. Método: presentación de un caso y análisis bibliográfico. Conclusiones: la poliposis hiperplásica es una enfermedad fenotípicamente heterogénica y los individuos afectados tienen riesgo aumentado para desarrollar un cáncer colorrectal.
Background: Hyperplastic polyposis is a sporadic disease, with little known genetic basis that usually present at around 50 years old. It has an increased risk of colorectal cancer up to 50%, according to different series of the literature. With regard to the pathogenesis a sequence of hyperplastic polyposisserrated adenoma-colorectal cancer has been involved. Objective: To report on a case and to make a literature review on this subject, especially with relation to the screening and management. Place of application: Public Institution. Population: 54 years old patient evaluated and treated for rectal cancer and hyperplastic polyposis. Method: case report and literature review. Conclusions: hyperplastic polyposis is a phenotypicaly heterogeneous disease and affected individuals are at increased risk for colorectal cancer.
Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Pólipos Intestinais/patologia , Polipose Intestinal/cirurgia , Polipose Intestinal/complicações , Polipose Intestinal/diagnóstico , Polipose Intestinal/terapia , Colonoscopia/métodos , Diagnóstico por Imagem , Imageamento por Ressonância Magnética , Neoplasias Colorretais/etiologia , Proctocolectomia RestauradoraRESUMO
Juvenile polyposis syndrome (JPS) is rare and is present when there are multiple juvenile polyps in the gastrointestinal tract, usually the colon. The importance of this condition is the association with the development of colorectal and upper gastrointestinal cancer at a young age. We report the case of a 21- year old male with a two-year history of intermittent rectal bleeding and anal protrusion. Colonoscopy revealed multiple pedunculated cherry red polyps mainly in the left colon. Histology confirmed juvenile polyps. Juvenile polyposis syndrome should be considered in young patients with colonic symptoms, especially rectal bleeding. It is important to distinguish between patients with JPS and patients with an isolated harmatomatous juvenile polyp.
El síndrome de poliposis juvenil (SPJ) es raro y se presenta en forma de pólipos juveniles múltiples en el tracto gastrointestinal, generalmente en el colon. La importancia de esta condición estriba en su asociación con el desarrollo del cáncer colorectal y el cáncer gastrointestinal superior en la edad juvenil. Reportamos el caso de un joven de 21 años con una historia de dos años de sangramiento rectal intermitente y protrusión anal. La colonoscopía reveló múltiples pólipos pedunculados de color rojocereza, principalmente en el colon izquierdo. La histología confirmó la presencia de pólipos juveniles. El síndrome del poliposis juvenil debe ser considerado en los pacientes jóvenes con síntomas colónicos, especialmente cundo hay sangramiento rectal. Es importante distinguir entre pacientes con SPJ y pacientes con un pólipo juvenil harmatomatoso aislado.
Assuntos
Humanos , Masculino , Adulto Jovem , Polipose Intestinal , Colonoscopia , Hemorragia Gastrointestinal/etiologia , Polipose Intestinal/complicações , Polipose Intestinal/congênito , Polipose Intestinal/diagnóstico , Síndromes Neoplásicas Hereditárias , RetoRESUMO
El Síndrome de Peutz-Jeghers (SPJ), es una patología poco frecuente, hereditaria, autosómica dominante, caracterizada por la pigmentación de la mucosa oral y de la piel plantar y palmar, junto a una poliposis gastrointestinal de tipo hamartomatoso. En su crecimiento dicho pólipos pueden llegar a complicarse y causar intususcepción, obstrucción y hemorragias intestinales. La mutación genética asociada a éste síndrome es en el cromosoma 19p, en el gen STK 11, y en la enzima LKB 1, que disminuye su función de supresión de tumores. Hay un aumento de la enzima Cox-2, pudiendo llegar a asociarse a una mayor incidencia de cáncer gastrointestinal y extraintestinal, por lo que es importante una pesquisa precoz de los pólipos. El objetivo de este trabajo, es reportar un caso de Íleo mecánico a nivel del yeyuno proximal como una complicación aguda de una poliposis de larga evolución por SPJ, que consultó en nuestro Servicio de Urgencia y que requirió de una laparotomía exploradora.
The Peutz-Jeghers syndrome (PJS) is an uncommon hereditary autosomal dominant disease, characterized by pigmentation of oral mucosa, plantar and palmar skin and gastrointestinal hamartomatous polyposis. When these polyps grow they can cause intussusceptions, intestinal obstruction and hemorrhages. We report a 38 years oíd male admitted for an intestinal obstruction. He had pigmentations of lips and palms of the hands. He was operated, finding a dilatation and thickening of thefirst 50 cm of jejunum. In the zone of obstruction, three intraluminal tumors of approximately 3.5 cm diameter were palpated. Similar tumors were palpated in transverse and descending colon. Approximately 20 cm of dilated proximal jejunum were excised. The pathology report informed the presence of hamartomatous polyps, confirming the diagnosis of Peutz-Jeghers syndrome.
Assuntos
Humanos , Masculino , Adulto , Hamartoma , Síndrome de Peutz-Jeghers/cirurgia , Síndrome de Peutz-Jeghers/diagnóstico , Doenças Labiais/etiologia , Intussuscepção/etiologia , Polipose Intestinal/cirurgia , Polipose Intestinal/complicações , Polipose Intestinal/diagnóstico , Síndrome de Peutz-Jeghers/complicações , Transtornos da Pigmentação/etiologiaRESUMO
En la segunda parte de este artículo de revisión de las manifestaciones cutáneas de las enfermedades gastrointestinales, se discutirán algunas de las genodermatosis con potencial maligno, que presentan manifestaciones digestivas y dermatológicas y los síndromes asociados a hemorragia gastrointestinal.