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Phototesting in patients with Smith-Lemli-Opitz syndrome confirms sensitivity to UV-A [Letter]

Martin, Julie A., Taylor, Charles, Trehan, Manju, Baron, Elma D. and Anstey, Alexander Vincent 2006. Phototesting in patients with Smith-Lemli-Opitz syndrome confirms sensitivity to UV-A [Letter]. Archives of Dermatology 142 (5) , pp. 647-651. 10.1001/archderm.142.5.647

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Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol metabolism first described in 1964.1 Patients with SLOS are deficient in 7-dehydrocholesterol reductase (DHCR7), the enzyme that catalyzes the final step of the cholesterol biosynthetic pathway, owing to disease-causing mutations in the DHCR7 gene located on chromosome 11q12.13. Deficiency in DHCR7 results in accumulation of cholesterol precursors, in particular, 7-dehydrocholesterol (7-DHC), and low levels of serum cholesterol. Clinical features are variable but include multiple malformations and developmental delay. Photosensitivity is now also a recognized feature, affecting about two thirds of patients with SLOS,2 - 3 with the action spectrum defined in 3 cases as falling in the UV-A range.3 Treatment for SLOS often includes a diet that is high in cholesterol, which parents of patients with SLOS report is of benefit for the photosensitivity

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Postgraduate Medical and Dental Education
Subjects: R Medicine > R Medicine (General)
R Medicine > RL Dermatology
Publisher: American Medical Association
ISSN: 0003-987X
Last Modified: 19 Mar 2016 23:03

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