|
Junko Matsuda
Department Kawasaki Medical School Kawasaki Medical School, Department of Pathophysiology and Metabolism, Position Professor |
|
| Article types | 症例報告 |
| Language | English |
| Peer review | Peer reviewed |
| Title | Numerous intertriginous xanthomas in infant: A diagnostic clue for sitosterolemia |
| Journal | Formal name：The Journal of Dermatology ISSN code：03852407 |
| Volume, Issue, Page | 43,pp.1340-1344 |
| Author and coauthor | Yamamoto Takenobu, Matsuda Junko, Dateki Sumito, Ouchi Kazunobu, Fujimoto Wataru. |
| Authorship | 2nd author |
| Publication date | 2016/08 |
| Summary | 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. |