Cowden's disease, one of the several hamartoma syndromes, is characterized by hyperplastic lesions and hamartomas distributed in the whole body. About thirty percent of patients with Cowden's disease have been...Cowden's disease, one of the several hamartoma syndromes, is characterized by hyperplastic lesions and hamartomas distributed in the whole body. About thirty percent of patients with Cowden's disease have been reported to be complicated by malignant tumors. Based on the criteria of the International Cowden Consortium, this disease is mainly diagnosed as trichilemmoma of the face and oral mucosal papillomatosis. However, Cowden's disease patients themselves often do not recognize trichilemmoma of the face and oral mucosal papillomatosis. We report a case of Cowden's disease in a 33-year-old female patient who was diagnosed based on the characteristic findings at gastrointestinal endoscopy. Clinically, the patient was aware of having bloody stools. Multiple polyps found endoscopically in the esophagus, stomach, ileum, colon and rectum showed histopathologically hamartomatous changes and epithelial hyperplasia. Physical examination revealed oral papillomatosis and facial trichilemmomas. A germline mutation in exon 8 of the phosphatase and tensin homolog deleted on chromosome ten (PTEN) gene was found in this case. It was a point mutation of C to T at codon 1003 (CGA→TGA, arginine→stop codon). The characteristic findings on gastrointestinal endoscopy led us to a diagnosis of Cowden's disease. It has been reported that gastrointestinal polyposis with esophageal polyposis is found in about 85.7% of Japanese patients with Cowden's disease. The characteristic findings on gastrointestinal endoscopy can be a useful diagnostic clue to Cowden's disease.展开更多
食管巨大纤维血管瘤。（Giant Fibrovascular Polyp of the Esophagus）是罕见的食管腔内型良性肿瘤，属于食管息肉的1种特殊类型，由于肿瘤巨大，易被病人呕吐到口腔堵塞咽喉，严重的可导致病人窒息，因此胸外科医生应加强对此疾病的...食管巨大纤维血管瘤。（Giant Fibrovascular Polyp of the Esophagus）是罕见的食管腔内型良性肿瘤，属于食管息肉的1种特殊类型，由于肿瘤巨大，易被病人呕吐到口腔堵塞咽喉，严重的可导致病人窒息，因此胸外科医生应加强对此疾病的认识。我科1990～2009年共诊治3例，现报告如下，并结合文献报导，对该肿瘤临床特征、诊治方法进行讨论。展开更多
Esophageal polyps are very rare,One case of giant fibrovascular polyp of the esophagus was described.The patient had symptoms of dysphagia and hematemesis.After examinations,the diagnosis of esophageal leiomyoma was m...Esophageal polyps are very rare,One case of giant fibrovascular polyp of the esophagus was described.The patient had symptoms of dysphagia and hematemesis.After examinations,the diagnosis of esophageal leiomyoma was made,In the process of thoracie exploration,esophageal polyp was removed,The pathological diagnosis postoperation was giant fibrovascular polyp of the esophagus associated with mucoid degeneration.展开更多
文摘Cowden's disease, one of the several hamartoma syndromes, is characterized by hyperplastic lesions and hamartomas distributed in the whole body. About thirty percent of patients with Cowden's disease have been reported to be complicated by malignant tumors. Based on the criteria of the International Cowden Consortium, this disease is mainly diagnosed as trichilemmoma of the face and oral mucosal papillomatosis. However, Cowden's disease patients themselves often do not recognize trichilemmoma of the face and oral mucosal papillomatosis. We report a case of Cowden's disease in a 33-year-old female patient who was diagnosed based on the characteristic findings at gastrointestinal endoscopy. Clinically, the patient was aware of having bloody stools. Multiple polyps found endoscopically in the esophagus, stomach, ileum, colon and rectum showed histopathologically hamartomatous changes and epithelial hyperplasia. Physical examination revealed oral papillomatosis and facial trichilemmomas. A germline mutation in exon 8 of the phosphatase and tensin homolog deleted on chromosome ten (PTEN) gene was found in this case. It was a point mutation of C to T at codon 1003 (CGA→TGA, arginine→stop codon). The characteristic findings on gastrointestinal endoscopy led us to a diagnosis of Cowden's disease. It has been reported that gastrointestinal polyposis with esophageal polyposis is found in about 85.7% of Japanese patients with Cowden's disease. The characteristic findings on gastrointestinal endoscopy can be a useful diagnostic clue to Cowden's disease.
文摘食管巨大纤维血管瘤。（Giant Fibrovascular Polyp of the Esophagus）是罕见的食管腔内型良性肿瘤，属于食管息肉的1种特殊类型，由于肿瘤巨大，易被病人呕吐到口腔堵塞咽喉，严重的可导致病人窒息，因此胸外科医生应加强对此疾病的认识。我科1990～2009年共诊治3例，现报告如下，并结合文献报导，对该肿瘤临床特征、诊治方法进行讨论。
文摘Esophageal polyps are very rare,One case of giant fibrovascular polyp of the esophagus was described.The patient had symptoms of dysphagia and hematemesis.After examinations,the diagnosis of esophageal leiomyoma was made,In the process of thoracie exploration,esophageal polyp was removed,The pathological diagnosis postoperation was giant fibrovascular polyp of the esophagus associated with mucoid degeneration.
