A 30-year-old woman with upper gastrointestinal bleeding from a Dieulafoy lesion was treated using endoscopic hemostasis. A subsequent interview revealed that she had pseudoxanthoma elasticum (PXE) with an ABCC6 gene mutation, but she had not been under medical care for many years. The lesion was considered to be associated with PXE. Cirsoid aneurysms, characteristic of PXE, were observed during follow-up esophagogastroduodenoscopy. Systemic examinations revealed characteristic PXE findings in the skin and eyes, but no coronary or cerebrovascular abnormalities. This case highlights the need for a comprehensive evaluation of upper gastrointestinal bleeding cases, particularly those with a Dieulafoy lesion suggestive of an underlying systemic disorder.
Kaji et al. (Thu,) studied this question.