Photomedicine: lessons from the Smith-Lemli-Opitz syndrome.
The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder caused by a discrete block in the cholesterol biosynthetic pathway. Recognition of the metabolic basis of this condition has bought into focus knowledge from fields as diverse as clinical genetics, sterol biochemistry, foetal nutrition, and experimental teratology, resulting in a rush of new insights in these fields. Unfortunately, late recognition of photosensitivity as part of this syndrome has largely excluded photodermatologists and photobiologists from the recent frenzy of research in this disorder. However, clinical features of this new inherited photosensitivity syndrome have now been established, and monochromator light testing has confirmed it to be a UVA-mediated condition. Current knowledge concerning photosensitivity in SLOS is reviewed and future research into the pathogenesis of this disorder is discussed.
Anstey
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Photodermatology Unit, Department of Dermatology, University of Wales College of Medicine, Cardiff, CF4 4XN, UK. alex.anstey@gwent.wales.nhs.uk
D000818:Animals; D006801:Humans; D010787:Photosensitivity Disorders / Q000235:genetics / Q000378:metabolism*; D019082:Smith-Lemli-Opitz Syndrome / Q000235:genetics / Q000378:metabolism*; D014466:Ultraviolet Rays / Q000009:adverse effects