Dorfman-Chanarin syndrome: An unusual presentation

Abstract

Dorfman-Chanarin syndrome is a rare autosomal recessive neutral lipid storage disorder with congenital ichthyosis characterized by triglyceride deposition in multiple organs. The usual clinical presentation has been reported to correspond to that of nonbullous congenital ichthyosiform erythroderma. We report a case of a 1-year-old boy who presented with minimally scaly figurate plaques with double-edged scaling in the periphery and clinically mimicking Netherton's Syndrome. The diagnosis was confirmed by the presence of characteristic lipid vacuoles in the leukocytes (Jordan's anomaly).

Keywords

• Congenital ichthyosis
• Dorfman-Chanarin syndrome
• Jordan's anomaly