Dorfman’s Syndrome: Neutral Lipid Storage Disease with Ichthyotic Erythroderma

Abstract

In 1974, Maurice L. Dorfman and his associates [4] delineated a new type of congenital ichthyosis characterized by ichthyotic erythroderma, severe fatty changes of the liver, and variable neurologic and ocular involvement. The biochemical hallmark of this syndrome was nonmembrane-bound lipid accumulations in the granulocytes of the peripheral blood (Fig. 70) and in granulocyte precursors in the bone marrow [4]. Lipid-containing vacuoles in the granulocytes had previously been described in 1953 by Jordans [6] seen in two brothers suffering from progressive muscular dystrophy, and are hence often referred to as “Jordans’ anomaly.” In 1966, Rozenszajn et al. [9] reported on four cases of Jordans’ anomaly in an Iraqui family. Two of these patients were also studied in Dorfman’s series [4].