Investigation into the Multidimensional Genetic Basis of Drug-Induced Stevens–Johnson Syndrome and Toxic Epidermal Necrolysis

Pirmohamed, Munir; Arbuckle, Julian B; Bowman, Clive; Brunner, M.; Burns, Daniel K.; Delrieu, Olivier; Dix, Lynn P.; Twomey, John; Stern, Robert S.

doi:10.2217/14622416.8.12.1661

“…18,[30][31][32][33][34][35] This suggests genetic inclination to the varying manifestations of SJS. 36 Immunoglobulin preparations administered intravenously showed good outcomes in reduction of the duration of skin reactions and reduction of pathophysiological manifestations like symptoms. [37][38][39] Discontinuation of triggering substances and use of high dose corticosteroids has shown promising outcomes in therapy.…”

Section: Discussionmentioning

confidence: 99%

Anatomy, Physiology and Drugs Triangular Dynamics in Steven Johnsons Syndrome

O

¹

2017

MOJAP

0

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The incidence of Steven-Johnson syndrome has been on the increase within the last two years in Nigeria. This renewed the interest on this disease to explore the dynamics for improved patient care. This review outlined the relationship between anatomic or structural changes, physiological variations, and the effect of drugs in Steven Johnson's syndrome. Better understanding of the fundamental structural and physiological changes in affected patients is vital to improve the treatment and/or the initial management procedures in resource-limited environments. This article showed the relationship between structural features, functions, and treatment. Tailoring treatment to the anatomical, physiological changes, and the effect of drugs and causative agents suggests a triangular dynamic trend in the disease state management.

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“…Studies in immunicompromized patients show that they are more susceptible to SJS [18,[30][31][32][33][34][35]. This suggests genetic inclination to the varying manifestations of SJS [36]. Immunoglobulin preparations administered intravenously showed good outcomes in reduction of the duration of skin reactions and reduction of pathophysiological manifestations like symptoms [37][38][39].…”

Section: Discussionmentioning

confidence: 99%

Untitled

2017

MOJAP

0

View full text Add to dashboard Cite

The incidence of Steven-Johnson syndrome has been on the increase within the last two years in Nigeria. This renewed the interest on this disease to explore the dynamics for improved patient care. This review outlined the relationship between anatomic or structural changes, physiological variations, and the effect of drugs in Steven Johnson's syndrome. Better understanding of the fundamental structural and physiological changes in affected patients is vital to improve the treatment and/or the initial management procedures in resource-limited environments. This article showed the relationship between structural features, functions, and treatment. Tailoring treatment to the anatomical, physiological changes, and the effect of drugs and causative agents suggests a triangular dynamic trend in the disease state management.

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“…Cases were defined by Pirmohamed et al 15 Briefly, cases were retrospectively enrolled and screened by expert review based on SJS/TEN inclusion and exclusion criteria. The controls were collected at the site of case matching for age, gender and ethnicity.…”

Section: Subjectsmentioning

confidence: 99%

“…This study was based on three SJS/TEN collections: PGX40001, 15 LAM30004 16 and an Italian collection (Materials and methods). Both PGX40001 and Italian cases were induced by multiple drugs (Tables 1a and b), whereas all LAM30004 case were because of lamotrigine.…”

Section: Initial Gwasmentioning

confidence: 99%

See 1 more Smart Citation

Genome-wide association study of serious blistering skin rash caused by drugs

Shen

¹

,

Nicoletti

²

,

Floratos

³

et al. 2011

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Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are rare but severe, potentially life threatening adverse drug reactions characterized by skin blistering. Previous studies have identified drug-specific and population-specific genetic risk factors with large effects. In this study, we report the first genome-wide association study (GWAS) of SJS/TEN induced by a variety of drugs. Our aim was to identify common genetic risk factors with large effects on SJS/TEN risk. We conducted a genome-wide analysis of 96 retrospective cases and 198 controls with a panel of over one million single-nucleotide polymorphisms (SNPs). We further improved power with about 4000 additional controls from publicly available datasets. No genomewide significant associations with SNPs or copy number variants were observed, although several genomic regions were suggested that may have a role in predisposing to drug-induced SJS/TEN. Our GWAS did not find common, highly penetrant genetic risk factors responsible for SJS/TEN events in the cases selected.

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Investigation into the Multidimensional Genetic Basis of Drug-Induced Stevens–Johnson Syndrome and Toxic Epidermal Necrolysis

Abstract: This study stresses the importance of accurate clinical phenotyping, exemplifies a novel analysis method to dissect complicated samples and calls for collaborative prospective studies.

Cited by 34 publications

References 50 publications

Anatomy, Physiology and Drugs Triangular Dynamics in Steven Johnsons Syndrome

Anatomy, Physiology and Drugs Triangular Dynamics in Steven Johnsons Syndrome

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Genome-wide association study of serious blistering skin rash caused by drugs

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