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Review
. 2021 May;41(5):905-914.
doi: 10.1111/liv.14794. Epub 2021 Mar 18.

Chanarin-Dorfman Syndrome: A comprehensive review

Erol Cakmak  1 , Gokhan Bagci  2
Affiliations
Review

Chanarin-Dorfman Syndrome: A comprehensive review

Erol Cakmak et al. Liver Int. 2021 May.

Abstract

The Chanarin-Dorfman syndrome (CDS) is a rare, autosomal recessively inherited genetic disease. This syndrome is associated with a decrease in the lipolysis activity in multiple tissue cells because of recessive mutations in the abhydrolase domain containing 5 (ABHD5) gene, which leads to the accumulation of lipid droplets in multiple types of cells. Major clinical symptoms in patients with CDS include ichthyosis and intracytoplasmic lipid droplets. The variability of clinical symptoms in patients with CDS depends on a large number of mutations involved. In this syndrome, liver involvement is an important cause of mortality and morbidity. This review aims to summarize the demographic characteristic, clinical symptoms, liver involvement and mutations in CDS patients in the literature to date.

Keywords: CGI-58; Chanarin-Dorfman syndrome; ichthyosis; non-alcoholic steatohepatitis.

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References

REFERENCES

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