Abstract: Neutral lipid storage disease is a nonlysosomal multisystemic triglyceride storage disease. It is characterized by leukocyte vacuolization (Jordans’ anomaly), variable systemic involvement, and ichthyosis. Two of our patients presented with congenital ichthyosis. Lipid vacuoles were demonstrated in granulocytes and monocytes and in basal keratinocytes on skin biopsy. They were diagnosed as Chanarin Dorfman syndrome. In contrast to these cases, the third case presented with progressive symmetric erythrokeratoderma without ichthyosis. Lipid vacuoles were demonstrated in blood cells on peripheral smear and in basal keratinocytes. Only screening of peripheral smear led ...
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