The vascular type of Ehlers-Danlos syndrome (vEDS) is a rare inherited disease of the connective tissues, and is caused by abnormal type III collagen resulting from heterogeneous mutations of the type III collagen COL3A1 gene. We herein report the case of a vEDS patient who developed a sigmoid colon perforation and was given a definitive diagnosis by a genetic and biomolecular assay. The patient demonstrated clinical manifestations caused by tissue weakness such as frequent pneumothorax events and a detached retina. During the operation, we noticed easy bruising and thin skin with visible veins on the patient's abdominal wall. Finally, a diagnosis was confirmed by the reduction of type III collagen synthesis and by the identification of a mutation in the gene for type III collagen. We conclude that it is difficult to diagnose a vEDS patient without clinical experiences and specialized genetic methods. Furthermore, all organs must be treated gently during therapy, because the tissues of vEDS patients are extremely fragile.

Small cell carcinoma of the stomach, which is considered synonymous with neuroendocrine carcinoma, is rare. We encountered a case of mixed adenoneuroendocrine carcinoma. Gastrointestinal endoscopy revealed a type 0 IIa + IIc lesion in the stomach. Biopsy suggested well-differentiated adenocarcinoma. Endoscopic submucosal dissection was performed and gastric cancer comprising both well to moderately differentiated adenocarcinoma within the mucous membrane and small cell carcinoma invading to the submucosa with accompanying vessel invasion was found. Mixed adenoneuroendocrine carcinoma was diagnosed and the small cell carcinoma was thyroid transcription factor-1 positive. No tumor lesions were apparent in other organs, so distal gastrectomy and lymph node dissection were performed. Lymph node metastases were not observed. The patient is currently alive without recurrence. Thyroid transcription factor-1-positive gastric neuroendocrine carcinoma is very rare, and the thyroid transcription factor-1-positive rate may contribute to the prediction of prognosis and treatment selection. Accumulation of cases is thus very important.

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