Disease relevance of Sjogren-Larsson Syndrome

• Sjögren-Larsson syndrome (SLS) is an autosomal recessively inherited neurocutaneous disorder caused by a deficiency of the microsomal enzyme fatty aldehyde dehydrogenase (FALDH) [1].
• Mutations in the fatty aldehyde dehydrogenase (FALDH) gene cause Sjögren-Larsson syndrome (SLS)-a disease characterized by mental retardation, spasticity, and congenital ichthyosis [2].
• In ichthyosis vulgaris, lamellar ichthyosis, Sjögren-Larsson syndrome, Netherton syndrome, and acquired ichthyosiform skin condition, the pattern of hsp27 expression resembles healthy human skin [3].
• In this review the most frequent inborn errors of metabolism with retinal degeneration are discussed including abetalipoproteinaemia, classical Refsum disease, neuronal ceroid lipofuscinosis, hydroxydicarboxylic aciduria, Sjögren-Larsson syndrome, infantile Refsum disease, Kearns-Sayre syndrome and gyrate atrophy [4].
• Based on our own experience, we briefly outline the therapeutic potential of etretinate in various keratinization defects (lamellar ichthyosis, Netherton syndrome, Sjögren-Larsson syndrome, mal de Meleda and juvenile pityriasis rubra pilaris) [5].

High impact information on Sjogren-Larsson Syndrome

• Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene [6].
• The proteome represents a rich source for the analysis of new functions of the outer membrane, including the yeast homologue (Hfd1/Ymr110c) of the human protein causing Sjögren-Larsson syndrome [7].
• Dystonia secondary to Sjögren-Larsson syndrome [8].
• Assay for Sjögren-Larsson syndrome based on a deficiency of phytol degradation [9].
• Defective inactivation of leukotriene B4 in patients with Sjögren-Larsson syndrome [10].

Chemical compound and disease context of Sjogren-Larsson Syndrome

• A new technique involving biochemical assay of cultured amniocytes for reduced levels of fatty alcohol:oxidized nicotinamide-adenine dinucleotide (NAD+)-oxidoreductase may allow earlier and less invasive detection of Sjögren-Larsson syndrome [11].
• These inherited diseases include isolated defects in the oxidation of fatty alcohol to fatty acid (Sjögren-Larsson syndrome) and deficient incorporation of fatty alcohol into ether lipids (isolated alkyl dihydroxyacetone phosphate synthase deficiency) [12].
• More material would be needed, however, to elucidate further the fundal changes in the Sjögren-Larsson syndrome [13].
• Topical treatment of Sjögren-Larsson syndrome with calcipotriol [14].
• Some ichthyoses can be recognized on routine hematoxylin and eosin staining (bullous ichthyosiform erythroderma, Netherton's syndrome, and neutral lipid storage disease); some forms require frozen sections to demonstrate fat (neutral lipid storage disease) or enzyme activity (Sjögren-Larsson syndrome) [15].

Anatomical context of Sjogren-Larsson Syndrome

• Cultured skin fibroblasts from controls and patients with Sjögren-Larsson syndrome (SLS) who are genetically deficient in FALDH activity were incubated with [2,3-(3)H]phytanic acid [16].

Gene context of Sjogren-Larsson Syndrome

• 5-Lipoxygenase inhibition: a new treatment strategy for Sjögren-Larsson syndrome [17].
• Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in Sjögren-Larsson syndrome [18].
• Normal fibroblast enzyme activities of fatty aldehyde dehydrogenase and NADPH cytochrome C reductase were not consistent with the diagnosis of Sjögren-Larsson syndrome [19].
• The metabolism of these compounds is impaired in several inherited human peroxisomal disorders, including adrenoleukodystrophy and Sjögren-Larsson syndrome [20].
• A number of ichthyosis syndromes may have retinal abnormalities such as the retinitis pigmentosa-like diffuse rod-cone dystrophy in Refsum's syndrome and the maculopathy in Sjögren-Larsson syndrome [21].

References