マツダ ジュンコ
  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 43,1340-1344頁
著者・共著者 Yamamoto Takenobu, Matsuda Junko, Dateki Sumito, Ouchi Kazunobu, Fujimoto Wataru.
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.