Chanarin-Dorfman Syndrome: The Enormous Value of a Simple Peripheral Blood Smears in Ichthyosis Saving Time and Money
Journal Title: Clinical Dermatology Open Access Journal - Year 2017, Vol 2, Issue 3
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.
Authors and Affiliations
Ganjoo Shikhar
Keywords
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- EP ID EP288549
- DOI 10.23880/cdoaj16000116
- Views 148
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