マツダ　ジュンコ   Junko Matsuda   松田　純子    所属   川崎医科大学  医学部 基礎医学　病態代謝学    職種   教授
論文種別	症例報告
言語種別	英語
査読の有無	査読あり
表題	Numerous intertriginous xanthomas in infant: A diagnostic clue for sitosterolemia
掲載誌名	正式名：The Journal of Dermatology ISSNコード：03852407
巻・号・頁	43,pp.1340-1344
著者・共著者	Yamamoto Takenobu, Matsuda Junko, Dateki Sumito, Ouchi Kazunobu, Fujimoto Wataru.
担当区分	2nd著者
発行年月	2016/08
概要	We described a 16-month-old girl, who had numerous yellowish-brown intertriginous xanthomas along the skin creases in extremities with severe hypercholesterolemia and elevated plant sterol levels. Electron microscopy showed numerous membrane-bound lipid droplets and multivesicular lipid bodies in the foam cells, a round cell containing lipid droplets in the basal cell layer, and abundant mucin deposits just beneath the basal lamina. Diagnosis of sitosterolemia was confirmed by DNA sequencing showing compound heterozygosity for previously reported missense mutations in exon 9 of ABCG5.