DORFMAN-CHANARIN-SYNDROME - A NEUTRAL LIP ID STORAGE DISORDER

Dorfman-Chanarin syndrome is a rare, autosomal recessive inherited lip id storage disease with skin manifestations in form of congenital icht hyotic erythroderma. Demonstration of lipid vacuoles in neutrophils fr om peripherals blood smears in patients with ichthyotic erythroderma l eads to the diagnosis. Other organ systems, such as CNS, liver, muscle , ears and eyes, are frequently involved. Since Dorfman-Chanarin syndr ome may present with just skin findings, it should be included in the differential diagnosis of the congenital ichthyoses. Microscopic ex am ination of peripheral blood smears is recommended in all patients with ichthyosis. We summarize the current data on the pathogenesis, diagno sis, differential diagnosis, and therapeutic options in Dorfman-Chanar in syndrome, give an overview of the clinical manifestations of the 23 patients described thus far and report a new patient affected with th is rare disease.