Pseudoxanthoma Elasticum Treated with Endoscopic Clip Hemostasis for Upper Gastrointestinal Bleeding from a Dieulafoy Lesion.
Ryosuke Kaji, Akiko Ohno, Jun Miyoshi et al.
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Case in brief
A 30-year-old woman presented with upper gastrointestinal bleeding from a Dieulafoy lesion and underwent endoscopic hemostasis. Further history revealed pseudoxanthoma elasticum (PXE) with an ABCC6 gene mutation, for which she had not received medical care for many years. The lesion was considered associated with PXE. Follow-up esophagogastroduodenoscopy showed characteristic cirsoid aneurysms. Examination also identified characteristic skin and eye findings of PXE, without coronary or cerebrovascular abnormalities.
What made this case unusual
The Dieulafoy lesion occurred in a patient with PXE, and follow-up endoscopy revealed cirsoid aneurysms, linking the gastrointestinal presentation to characteristic vascular findings of the systemic disorder.
Diagnostic / clinical pearl
A Dieulafoy lesion presenting with upper gastrointestinal bleeding may prompt consideration of an underlying systemic disorder; in this case, further history and systemic examination identified PXE.