This paper presents a case of paraesophageal hiatal hernia accompanied by congenital connective tissue disease. A 41-year-old man was admitted to the hospital because of vomiting, left chest pain and dyspnea. Chest roentogenogram, chest computed tomography and upper gastrointestinal series revealed incarceration of the entire stomach into thoracic cavity with gastric volvulus. The patient was diagnosed as having paraesophageal hiatal hernia in which the entire stomach was incarcerated with gastric volvulus. Floppy Nissen fundoplication was performed under an open laparotomy.
From his childhood, he had joint hypermobility, skin hyperextensibility, and vessel fragility. On suspition of connective tissue disease, a skin biopsy was conducted. As a result, slightly narrowing of collagen fiber and haphazard fashion of elastic fibers with fragmentation were revealed. The pathological diagnosis was Ehlers-Danlos syndrome. This case indicates that we should take into consideration a possibility of Ehlers-Danlos syndrome in the treatment of esophageal hiatal hernia in relatively young patients.