Abstract
Dorfman-Chanarin syndrome is an autosomal recessive congenital disorder that was first described in 1974 by Dorfman and 1 year later from Chanarin. The syndrome has also been referred to as ichthyotic neutral lipid storage disease (INLSD) or triglyceride storage disease because of its impaired long-chain fatty acid oxidation. It belongs to the class of systemic lipidoses involving the triacylglycerol (TAG) storage that is normally used for phospholipid biosynthesis. Hundreds of sporadic cases have been documented worldwide. Clinically, the disorder presents with ichthyosis, deafness, cataract formation, hepatomegaly, liver cirrhosis (most frequently), splenomegaly, muscular weakness and cognitive impairment. Increase in dietary medium-chain fatty acids and long-term topical care are the mainstay of management.
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Panteliadis, C.P. (2022). Dorfman-Chanarin Syndrome. In: Panteliadis, C.P., Benjamin, R., Hagel, C. (eds) Neurocutaneous Disorders. Springer, Cham. https://doi.org/10.1007/978-3-030-87893-1_35
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DOI: https://doi.org/10.1007/978-3-030-87893-1_35
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