The syndrome of defects in the membranous bones, exophthalmos and diabetes insipidus has been recognized as a systemic manifestation of disturbed lipoid metabolism. This symptom complex was first described by Hand,1 in 1893, who considered the disease to be a tuberculous granuloma of bones with dyspituitarism due to secondary hypophyseal implication. In Hand's case there was a soft yellow (xanthomatous) area about 1 inch in diameter involving the entire thickness of the right parietal bone of the skull. Later Schüller, in Vienna, in 1916 reported two additional cases with the characteristic roentgen findings in the skull and Christian2 in 1919 described another case. Both Schüller and Christian stated the belief that the entire clinical picture was due to pituitary dysfunction. In 1925 Thompson, Keegan and Dunn3 reported a case with complete autopsy. Rowland4 in 1928 reviewed these cases and the related literature, described two new cases
WORTIS SB, WOLF A, DYKE CG. XANTHOMATOSIS AND THE SYNDROME OF DIABETIC EXOPHTHALMIC DYSOSTOSIS. Am J Dis Child. 1936;51(2):353–366. doi:10.1001/archpedi.1936.01970140117013
Customize your JAMA Network experience by selecting one or more topics from the list below.