Kaassis_1998_Ann.Dermatol.Venereol_125_317

BACKGROUND: Dorfman-Chanarin syndrome is an uncommon condition characterized 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 erythroderma. Blood smears revealed lipid vacuoles in granulocyte cytoplasm, leading to the diagnosis of Dorfman-Chanarin syndrome. The child also had liver and ophthalmologic involvement. DISCUSSION: Dorfman-Chanarin syndrome is a rare autosomic recessive hereditary disease (27 cases reported in the literature) related to the accumulation of neutral lipids in organ tissues. Clinical manifestations are dry congenital ichtyosiform erythroderma and lipid vacuoles in circulating granulocytes. The syndrome may be expressed more or less severely in several organs. Diagnosis 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 but appears to be related to perturbed intracellular triglyceride catabolism. Treatment is symptomatic.