DORFMAN-CHANARIN-SYNDROME

Background. Dorfman-Chanarin syndrome is an uncommon condition charact erized by non-bullous congenital ichtyosiform erythrodermia and lipid vacuoles in circulating leukocytes. Case report. We report an unusual presentation in a child who had a dry congenital ichtyosiform erythrod erma. Blood smears revealed lipid vacuoles in granulocyte cytoplasm, l eading to the diagnosis of Dorfman-Chanarin syndrome. The child also h ad liver and ophthalmologic involvement. Discussion Dorfman-Chanarin s yndrome is a rare autosomic recessive hereditary disease (27 cases rep orted in the literature) related to the accumulation of neutral Lipids in organ tissues. Clinical manifestations are dry congenital ichtyosi form erythroderma and lipid vacuoles in circulating granulocytes. The syndrome may be expressed more or less severely in several organs. Dia gnosis is confirmed on blood smears. The vacuoles can also be observed in smears of heterozygous subjects and can serve as a screening test. The pathogenesis of Dorfman-Chanarin syndrome is poorly understood bu t appears to be related to perturbed intracellular triglyceride catabo lism. Treatment is symptomatic.