As early as 1919, several writers1 described a few cases of defects in the membranous bones occurring within certain other clinical manifestations. This syndrome has been grouped under such terms as the following: defects in the membranous bones, diabetes insipidus with unilateral exophthalmos, Niemann-Pick's disease, Christian's syndrome and Schüller's disease. In 1928, Rowland2 made a careful study of the reports of these cases, and found that in each of these diseases the lipoid metabolism of the body was at fault. Instead of considering the diseases as separate and distinct clinical entities, Rowland considered them as different expressions of the same process and coined the term xanthomatosis to cover the entire group.
Rowland pointed out that such processes begin with an excess of lipoid in the body tissue. The lipoids act either on the vascular endothelium as irritants or on previously injured surfaces with a storage of lipoid in
METTEL HB. XANTHOMATOSIS. Am J Dis Child. 1931;42(4_PART_I):858–863. doi:10.1001/archpedi.1931.01940160126010
Customize your JAMA Network experience by selecting one or more topics from the list below.