Photosensitivity associated with the Smith–Lemli–Opitz syndrome

Charman, C. R., Ryan, A., Tyrrell, R. M., Pearse, Anthony D., Arlett, C. F., Kurwa, H. A., Shortland, Graham and Anstey, Alexander Vincent ORCID: https://orcid.org/0000-0002-6345-4144 1998. Photosensitivity associated with the Smith–Lemli–Opitz syndrome. British Journal of Dermatology 138 (5) , pp. 885-888. 10.1046/j.1365-2133.1998.02231.x

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Abstract

A case of severe photosensitivity in a girl with the Smith–Lemli–Opitz syndrome is reported. Children with this recessively inherited metabolic disorder of cholesterol metabolism present with a variety of congenital abnormalities of the nervous system and internal organs in association with varying degrees of mental retardation. Photosensitivity is a feature which has previously only briefly been mentioned in the literature in association with this syndrome. However, more recently, it has become apparent that photosensitivity is not uncommon among children with the Smith–Lemli–Opitz syndrome, although the nature of the photosensitivity in these patients has remained undefined. Our patient has suffered from sunlight intolerance since early infancy, with redness and pruritus of sun-exposed skin developing within minutes of sun exposure. Monochromator ultraviolet (UV) radiation and visible light testing revealed an immediate and persistent reaction to low-dose UVA at 350 nm, and an abnormal erythemal response to visible light at 400 nm.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine Postgraduate Medical and Dental Education
Subjects:	R Medicine > RL Dermatology
Publisher:	Wiley-Blackwell
ISSN:	0007-0963
Last Modified:	21 Oct 2022 09:23
URI:	https://orca.cardiff.ac.uk/id/eprint/36168

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