A case of von Recklinghausen disease associated with adenocarcinoma, multiple carcinoid, neurofibromatosis, and ganglioneuromatosis of rectum

Abstract

A 39-year-old male with multiple small soft tumors and cafe au lait spots over the entire body was admitted to our hospital because of bloody stool. Endoscopic examination revealed multiple polypoid lesions of the rectum. The histologic diagnosis of the specimen by polypectomy was adenocarcinoma (signet ring cell type). An ultrasound and a CTscan showed no metastatic tumor. Abdominoperineal resection of the rectum with regional lymph node resection was performed. The resected specimen revealed various states of tissue, adenocarcinoma, multiple carcinoids, neurofibromatosis, and ganglioneurofibromatosis of the rectum. von Recklinghausen disease (VRD) is an autosomal dominant inheritant disease which is characterized by cafe au lait spots and multiple neurofibromas, of the skin and peripheral nerves. Sometimes the association of nonepithelial tumors of nerve origin in the gastrointestinal organs has been reported, but that of gastrointestinal epithelial tumor has been rarely seen. To our knowledge, VRD associated with adenocarcinoma (signet ring cell type), multiple carcinoid, neurofibromatosis, and ganglioneuromatosis of the rectum has not been previously reported.