Sea-blue histiocyte syndrome with bone anomalies.

Two sisters, now 29 and 24 years old, are described. They presented a congenital storage of, most probably, phospholipids in the histiocytes of the sea-blue type or blue pigmentophages. The granules of these cells showed a PAS positivity and strong positivity for acid phosphatase, but there were negative also for non-specific esterase, naphthol-AS-D-chloracetate esterase and iron acid also for urine mucopolysaccharide.