RESUMO
BACKGROUND/AIMS: Dorfman-Chanarin syndrome is a very rare condition determined by an autosomal recessive inherited disorder of neutral lipid metabolism. The syndrome is defined by the association of ichthyosiform nonbullous erythroderma, vacuoles in the leukocytes and variable involvement of liver, muscle and central nervous system. Only 19 cases have been described worldwide. METHODS: We studied a 16-year-old patient with congenital ichthyosis, liver and spleen enlargement and abnormal gamma-glutamyltransferase. Liver biopsy, skin biopsy and blood smear showed abnormal intracellular neutral lipid storage. RESULTS/CONCLUSION: On the basis of clinical and histological findings, the patient was diagnosed as having Dorfman-Chanarin syndrome. This is the fourth reported Italian case, with a prominent skin and hepatic involvement. Liver biopsy, performed in the first instance, was of great importance in reaching a diagnosis.