Sjogren-Larsson Syndrome

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2022-04-26
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Sjogren-Larsson syndrome (SLS) is an inborn error of lipid metabolism, characterized by congenital ichthyosis (dry, scaly skin), intellectual disability, and spasticity (stiffness and involuntary muscle spasms).  The syndrome is caused by mutations in the gene called FADH (fatty aldehyde dehydrogenase) and is inherited in an autosomal recessive fashion. Treatment is symptomatic.