Characteristic Facial Appearance Was the Key to Diagnosing Chronic Enteropathy Associated with SLCO2A1-Associated Primary Hypertrophic Osteoarthropathy: A Case Report

Akira Sonoda; Yasuhiro Wada; Kazumi Togo; Kazuhiro Mizukami; Yuta Fuyuno; Junji Umeno; Shin Fujioka; Kensuke Fukuda; Kazuhisa Okamoto; Ryo Ogawa; Tadayoshi Okimoto; Kazunari Murakami

doi:10.2169/internalmedicine.3369-19

This article has now been updated. Please use the final version.

Characteristic Facial Appearance Was the Key to Diagnosing Chronic Enteropathy Associated with SLCO2A1-Associated Primary Hypertrophic Osteoarthropathy: A Case Report

Akira Sonoda, Yasuhiro Wada, Kazumi Togo, Kazuhiro Mizukami, Yuta Fuyuno, Junji Umeno, Shin Fujioka, Kensuke Fukuda, Kazuhisa Okamoto, Ryo Ogawa, Tadayoshi Okimoto, Kazunari Murakami

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Keywords: Chronic enteropathy associated with SLCO2A1, primary hypertrophic osteoarthropathy, pachydermia of the forehead folds

JOURNAL OPEN ACCESS Advance online publication

Article ID: 3369-19

DOI https://doi.org/10.2169/internalmedicine.3369-19

The final version of this article is now available: Vol. 59 (2020), No. 4 pp. 491-494

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Abstract

Patients with chronic enteropathy associated with SLCO2A1 (CEAS) develop multiple circular, longitudinal, or eccentric ulcers in the ileum. It is sometimes difficult to distinguish CEAS from Crohn's disease. CEAS and primary hypertrophic osteoarthropathy (PHO) are together known to be caused by a mutation of SLCO2A1 gene. The case of a 65-year-old man whose characteristic appearance due to pachydermia of the forehead folds led to the diagnosis of CEAS with PHO is presented.

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