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Sjögren-Larsson syndrome

Amy T Waldman, MD
Raphael Schiffmann, MD, MHSc
Section Editors
Francisco González-Scarano, MD
Marc C Patterson, MD, FRACP
Deputy Editor
John F Dashe, MD, PhD


Sjögren-Larsson syndrome (SLS; MIM #270200) is an autosomal recessive neurocutaneous disorder caused by an inborn error of metabolism involving fatty alcohol oxidation. The disorder was first described in 1957 by Sjögren and Larsson, who reported a series of 28 patients with a clinical triad of ichthyosis, spastic diplegia or quadriplegia, and intellectual disability (mental retardation, oligophrenia) [1].

This topic will review the pathogenesis, clinical features, diagnosis, and management of SLS.


SLS is a disorder of fatty alcohol metabolism (figure 1) caused by a deficiency of the enzyme fatty aldehyde dehydrogenase (FALDH), a component of the fatty alcohol:nicotinamide-adenine dinucleotide oxidoreductase (FAO) enzyme complex [2,3].

FAO is composed of two distinct proteins that sequentially catalyze the oxidation of fatty alcohols to fatty aldehydes and then to fatty acids (figure 2) [2,3]:

Fatty alcohol dehydrogenase (FADH), which catalyzes the oxidation of medium- and long-chain fatty alcohols to fatty aldehydes

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Literature review current through: Dec 2017. | This topic last updated: Nov 20, 2017.
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