Photomedicine: lessons from the Smith-Lemli-Opitz syndrome

Anstey, Alexander Vincent ORCID: https://orcid.org/0000-0002-6345-4144 2001. Photomedicine: lessons from the Smith-Lemli-Opitz syndrome. Journal of Photochemistry and Photobiology B: Biology 62 (3) , pp. 123-127. 10.1016/S1011-1344(01)00171-3

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Abstract

The Smith–Lemli–Opitzsyndrome (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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General) R Medicine > RL Dermatology
Uncontrolled Keywords:	Smith–Lemli–Opitzsyndrome; Inherited photosensitivity; Cholesterol biosynthesis; UVA
Publisher:	Elsevier
ISSN:	1011-1344
Last Modified:	21 Oct 2022 09:36
URI:	https://orca.cardiff.ac.uk/id/eprint/37019

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