Phototesting in patients with Smith–Lemli–Opitz syndrome confirms sensitivity to UV-A
Abstract
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
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9-DDHC can generate singlet oxygen in a UVR-stimulated cyclic reaction.
“Such a compound was capable of generating singlet oxygen in the cycle reaction stimulated by UVR [158, 165].”
From Steroidogenesis in the skin: Implications for local immune functions (2013) · cites this paper as [165]
Cites
A newly recognized syndromeof multiple congenital anomalies
Smith, D. W., Lemli, L., & Opitz, J. M. (1964) · The Journal of Pediatrics · doi:10.1016/s0022-3476(64)80264-x · Cited by 650 · see citing works
Anstey, Ryan, Rhodes, L. E., Charman, Arlett, Tyrrell, Taylor, & Pearse (1999) · British Journal of Dermatology · doi:10.1046/j.1365-2133.1999.03032.x · Cited by 46 · see citing works
Cholesterol supplementation objectively reduces photosensitivity in the Smith-Lemli-Opitz syndrome
Azurdia, R. M., Anstey, A. V., & Rhodes, L. E. (2001) · British Journal of Dermatology · doi:10.1046/j.1365-2133.2001.03964.x · Cited by 43 · see citing works
Vitamin D status in patients affected by Smith‐Lemli‐Opitz syndrome
Rossi, M., Federico, G., Corso, G., Parenti, G., Battagliese, A., Frascogna, A. R., Casa, R. D., Russo, A. D., Strisciuglio, P., Saggese, G., et al. (2005) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-005-3676-8 · Cited by 26 · see citing works
Anstey, A. V., & Taylor, C. R. (1999) · Journal of the American Academy of Dermatology · doi:10.1016/s0190-9622(99)70420-2 · Cited by 15 · see citing works
Anstey, A. V., Azurdia, R. M., Rhodes, L. E., Pearse, A. D., & Bowden, P. E. (2005) · British Journal of Dermatology · doi:10.1111/j.1365-2133.2005.06761.x · Cited by 9 · see citing works
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Steroidogenesis in the skin: Implications for local immune functions
Slominski, A., Zbytek, B., Nikolakis, G., Manna, P. R., Skobowiat, C., Zmijewski, M., Li, W., Janjetovic, Z., Postlethwaite, A., Zouboulis, C. C., et al. (2013) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2013.02.006 · Cited by 369 · see citing works
Teledermatology: From historical perspective to emerging techniques of the modern era
Coates, S. J., Kvedar, J., & Granstein, R. D. (2015) · Journal of the American Academy of Dermatology · doi:10.1016/j.jaad.2014.07.061 · Cited by 152 · see citing works
- Authors
- Martin, J. A.
- Affiliations
- University Hospital of Wales (GB)
- Corresponding author
- Martin, Julie A.
- Venue
- Archives of Dermatology
- Publisher
- American Medical Association (AMA)
- Published
- 2006-05-01
- Volume
- 142
- Issue
- 5
- Pages
- 647
- ISSN
- 0003-987X (ISSN-L)
- OpenAlex
- W2080123831
- Cited by
- 10
- References
- 6
- Citations by year
- 2018: 1 · 2016: 1 · 2015: 2 · 2013: 2
- FWCI
- 0.19
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Archives of Dermatology (publishedVersion)
- PubMed (publishedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Surgery › Cholesterol and Lipid Metabolism
- Keywords
- Smith-Lemli-Opitz syndrome, photosensitivity, phototesting, cholesterol biosynthesis, 7-dehydrocholesterol, low serum cholesterol, high-cholesterol diet, action spectrum
- MeSH terms
- Adolescent, Child, Child, Preschool, Female, Humans, Male, Photosensitivity Disorders, Ultraviolet Rays, Smith-Lemli-Opitz Syndrome
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