Phototesting in Patients With Smith-Lemli-Opitz Syndrome Confirms Sensitivity to UV-A

Martin, Julie A.; Taylor, Charles R.; Trehan, Manju; Baron, Elma D.; Anstey, Alexander Vincent

doi:10.1001/archderm.142.5.647

Cited by 7 publications

(3 citation statements)

References 6 publications

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“…It was shown that cholesta-5,7,9(11)-trien-3β-ol (9-DDHC) derivative of 7DHC is indeed formed in the skin subjected to UVA irradiation [158]. Such a compound was capable of generating singlet oxygen in the cycle reaction stimulated by UVR [158, 165]. Interestingly, we have recently shown that another 5,7-diene, pregna-5,7-diene-3β,17α,20-triol, when subjected to UVR may also be converted to a triene, namely pregna-5,7,9(11)-triene-3β,17α,20S-triol [166].…”

Section: Steroidogenesis In the Skinmentioning

confidence: 99%

Steroidogenesis in the skin: Implications for local immune functions

Slominski

Zbytek

Nikolakis

et al. 2013

The Journal of Steroid Biochemistry and Molecular Biology

318

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The skin has developed a hierarchy of systems that encompasses the skin immune and local steroidogenic activities in order to protect the body against the external environment and biological factors and to maintain local homeostasis. Most recently it has been established that skin cells contain the entire biochemical apparatus necessary for production of glucocorticoids, androgens and estrogens either from precursors of systemic origin or, alternatively, through the conversion of cholesterol to pregnenolone and its subsequent transformation to biologically active steroids. Examples of these products are corticosterone, cortisol, testosterone, dihydrotesterone and estradiol. Their local production can be regulated by locally produced corticotropin releasing hormone (CRH), adrenocorticotropic hormone (ACTH) or cytokines. Furthermore the production of glucocorticoids is affected by ultraviolet B radiation. The level of production and nature of the final steroid products are dependent on the cell type or cutaneous compartment, e.g., epidermis, dermis, adnexal structures or adipose tissue. Locally produced glucocorticoids, androgens and estrogens affect functions of the epidermis and adnexal structures as well as local immune activity. Malfunction of these steroidogenic activities can lead to inflammatory disorders or autoimmune diseases. The cutaneous steroidogenic system can also have systemic effects, which are emphasized by significant skin contribution to circulating androgens and/or estrogens. Furthermore, local activity of CYP11A1 can produce novel 7 -steroids and secosteroids that are biologically active. Therefore, modulation of local steroidogenic activity may serve as a new therapeutic approach for treatment of inflammatory disorders, autoimmune processes or other skin disorders. In conclusion, the skin can be defined as an independent steroidogenic organ, whose activity can affect its functions and the development of local or systemic inflammatory or autoimmune diseases.

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Section: Steroidogenesis In the Skinmentioning

confidence: 99%

Steroidogenesis in the skin: Implications for local immune functions

Slominski

Zbytek

Nikolakis

et al. 2013

The Journal of Steroid Biochemistry and Molecular Biology

318

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“…However, only two patients with SLOS have been formally tested for UV responses both before and after the introduction of a high cholesterol diet; both showed decreased photosensitivity to UVA (24, 25). A study of photosensitivity in seven children with SLOS included UV testing with broad‐band UVA and UVB sources (26). Sensitivity to UVA was confirmed in all seven children with significantly reduced minimal erythema doses, while abnormal sensitivity to UVB was identified in only two out of seven (26).…”

Section: Action Spectrum For Photosensitivity In Slosmentioning

confidence: 99%

“…A study of photosensitivity in seven children with SLOS included UV testing with broad‐band UVA and UVB sources (26). Sensitivity to UVA was confirmed in all seven children with significantly reduced minimal erythema doses, while abnormal sensitivity to UVB was identified in only two out of seven (26).…”

Section: Action Spectrum For Photosensitivity In Slosmentioning

confidence: 99%

School in photodermatology: Smith–Lemli–Opitz syndrome

Anstey

2006

Photoderm Photoimm Photomed

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The Smith-Lemli-Opitz syndrome has only recently been added to the small number of congenital disorders characterized by photosensitivity. The clinical features of this disorder are distinct from other photosensitivity syndromes. Details on the patho-mechanism of photosensitivity in the Smith-Lemli-Opitz syndrome have yet to be fully determined. However, preliminary evidence points to the deranged cholesterol metabolism that characterizes the syndrome as causal in this UVA-mediated photosensitivity disorder.

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Photosensitivity and Photoreactions

Paller

Mancini

2016

Hurwitz Clinical Pediatric Dermatology

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Phototesting in Patients With Smith-Lemli-Opitz Syndrome Confirms Sensitivity to UV-A

Cited by 7 publications

References 6 publications

Steroidogenesis in the skin: Implications for local immune functions

Steroidogenesis in the skin: Implications for local immune functions

School in photodermatology: Smith–Lemli–Opitz syndrome

Photosensitivity and Photoreactions

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