Case Report: Complicated Presentation Eventually Explained by Rare Syndrome

Treatments for chronic enteropathies, such as IBD, including 5-aminosalicylic acid (5-ASA), corticosteroids, azathioprine and anti-tumor necrosis factor-α antibody (anti-TNF-α), are often ineffective in CEAS. However, we found one report of improvement with azathioprine.¹⁸ A case report of a male patient with CEAS and PDP indicates he was eventually treated with 5-ASA.¹⁹

Conclusion

A diagnosis of PDP is often delayed due to different presentations, such as pachyderma, arthritis, enlarged distal extremities and even GI ulceration. CEAS should be considered in those with chronic enteropathy and SLCO2A1 gene mutation, and the therapy may differ from that for IBD. Patients may not respond well to treatment and different options may need to be explored, with minimal consensus on the available options, other than NSAIDs and, potentially, pamidronate.

The patient in our case report met the diagnostic criteria for PDP given the arthralgias, skin thickening and periosteal reaction, even though he did not have some of the other features, such as clubbing or cutis verticis gyrata, at the time of diagnosis. Genetic testing confirmed the diagnosis, with abnormalities in the SLCO2A1 gene, which also made CEAS a concern given his GI symptoms, especially findings related to the ileum. The patient has shown some response to methotrexate and anti-TNF-α medications. Since the implementation of this regimen, plus the addition of physical therapy and a Crohn’s disease exclusion diet, he has experienced improvement in joint swelling and pain.

Geoffrey E. Thiele, MD, is a third-year pediatric rheumatology fellow at Children’s Hospital Los Angeles. He attended the University of Nebraska Medical Center, Omaha, for medical school and completed his residency at Phoenix Children’s Hospital, both of which cemented his interest in the field of pediatric rheumatology.

Iris Reyhan, MD, is assistant professor of pediatrics at Children’s Hospital Los Angeles, Keck School of Medicine, and associate fellowship program director at Children’s Hospital Los Angeles. She received her medical degree from Technion-Israel Institute of Technology, Haifa, Israel. She completed her residency training at Cohen Children’s Medical Center, Northwell Health, New York.

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