Chanarin-Dorfman Syndrome: The Enormous Value of a Simple Peripheral Blood Smears in Ichthyosis Saving Time and Money

Authors: Ganjoo Shikhar and Ganjoo Tulika

DOI: 10.23880/cdoaj16000116

Volume 2, Issue 1

Abstract

Chanarin-Dorfman syndrome (CDS) is a rare non-lysosomal autosomal recessive neutrophil lipid storage disorder characterized by deposition of cytoplasmic neutral lipid droplets in many cell types. It is clinically characterized by nonbullous congenital ichthyosiform erythroderma, hepatomegaly, myopathy, ataxia, neurosensory hearing loss and varying developmental delay. A peripheral blood smear showing lipid droplets in granulocytesis highly suggestive of the diagnosis.

Keywords: Chanarin-Dorfman syndrome; Blood smear; Granulocytesis; Ichthyosis; Hepatomegaly

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