Sjögren-Larsson syndrome presents with ichtyosis, spastic diplegia and cognitive deficits. It is caused by a deficiency of fatty aldehyde dehydrogenase. Treatments are limited to symptomatic therapies; for example, ziluteon (an inhibitor of 5-lipoxygenase) can reduce pruritus.

In a recent article, bezafibrate has been shown to induce the expression of the deficient protein in fibroblasts from some patients. This discovery could become of clinical importance.
Mol Genet Metab. 2006 September – October;89(1-2):111-115.

Bezafibrate induces FALDH in human fibroblasts; implications for Sjogren-Larsson syndrome.

Gloerich J, Ijlst L, Wanders RJ, Ferdinandusse S.

For an excellent review of Sjögren-Larsson syndrome, see this article in which we learn that a knockout mouse has been created for this condition :

Mol Genet Metab. 2006 Sep 20;

Sjogren-Larsson syndrome: Molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency.

Rizzo WB.

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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator