Fig. 3.

Clinical findings of a male patient (26 years) with CEAS and PHO. a Images of small bowel follow through. Filling image showing multiple eccentric rigidities in the ileum (arrows). b Images of double-balloon enteroscopy. Two lesions of ulceration with stenosis were observed in the ileum. c Sanger sequencing of the SLCO2A1 gene. This patient had compound heterozygous mutations, namely c.547G > A (p.G183R) and c.940 + 1G > A (splice site). d X-ray images of the extremities. Radiographs of both the hands and ankle joints revealed cortical hyperostosis and periosteal reaction.

Figures are reprinted with permission from Ref. [17] and [18]