Pharmacogenomics for treatment response in patients with Stevens-Johnson syndrome: An updated review

Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are dermatological emergencies characterised by widespread epidermal necrolysis and sloughing. SJS is defined as the shedding of skin on less than 10 % of the body surface area, whereas TEN involves the shedding of skin on more than 30 %. The pathogenesis of SJS is identified by the occurrence of apoptosis of keratinocytes, which is spread throughout the body. The binding of the molecule to the human leukocyte antigen (HLA) peptide is one of the basic triggering mechanisms for SJS due to an autoimmune reaction. This study aims to predict genetic predictive markers for the prevention and pharmacological treatments of SJS/TEN. The PharmGKB website was used to gather information regarding the relationship among drugs, genes and the SJS condition. Results revealed notable gene variants (eg HLA-A, HLA-B, HLA-B, HLA-C, CYP2B6) predisposing individuals to a toxic response, instigating the SJS reaction. Implicated drugs included allopurinol, antiepileptics such as carbamazepine, lamotrigine, oxcarbazepine and phenytoin, as well as methazolamide and nevirapine, identified as potential risk factors. As a result, this study can provide information and facilitate precision medicine, which focuses on individual genetic variations as a means of prevention and treatment, enabling early prognosis and optimising patient care in preventing SJS/TEN.

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Journal
Scripta Medica
Published
2025-01-01
DOI
https://doi.org/10.5937/scriptamed56-53722
Citations
1
Primary Topic
Drug-Induced Adverse Reactions
Type
article
Field-Weighted Citation Impact
1.39
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Pharmacogenomics for treatment response in patients with Stevens-Johnson syndrome: An updated review

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Drug-Induced Adverse Reactions
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article

Pharmacogenomics for treatment response in patients with Stevens-Johnson syndrome: An updated review

Faizul Hasan, Daraporn Rungprai, Sabiah Khairi, Darmawi Darmawi, Lalu Muhammad Irham, Wirawan Adikusuma, Rahmat Dani Satria, Maulida Mazaya, Rockie Chong, Lalu Muhammad Harmain Siswanto, Barkah Djaka Purwanto, Made Ary Sarasmita, Danang Prasetyaning Amukti, Prasetya Budiawan, Rina mutiara
article en
1 citations

Abstract

Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are dermatological emergencies characterised by widespread epidermal necrolysis and sloughing. SJS is defined as the shedding of skin on less than 10 % of the body surface area, whereas TEN involves the shedding of skin on more than 30 %. The pathogenesis of SJS is identified by the occurrence of apoptosis of keratinocytes, which is spread throughout the body. The binding of the molecule to the human leukocyte antigen (HLA) peptide is one of the basic triggering mechanisms for SJS due to an autoimmune reaction. This study aims to predict genetic predictive markers for the prevention and pharmacological treatments of SJS/TEN. The PharmGKB website was used to gather information regarding the relationship among drugs, genes and the SJS condition. Results revealed notable gene variants (eg HLA-A, HLA-B, HLA-B, HLA-C, CYP2B6) predisposing individuals to a toxic response, instigating the SJS reaction. Implicated drugs included allopurinol, antiepileptics such as carbamazepine, lamotrigine, oxcarbazepine and phenytoin, as well as methazolamide and nevirapine, identified as potential risk factors. As a result, this study can provide information and facilitate precision medicine, which focuses on individual genetic variations as a means of prevention and treatment, enabling early prognosis and optimising patient care in preventing SJS/TEN.

Scripta MedicaVol. 56(6)
Udayana University (ID), Chulalongkorn University (TH), University of California, Los Angeles (US), Universitas Gadjah Mada (ID), Universitas Ahmad Dahlan (ID), University of Muhammadiyah Mataram (ID), National Research, Development and Innovation Office (HU), Kementerian Kesehatan Republik Indonesia (ID), Universitas Teknologi Yogyakarta (ID), Rumah Sakit Umum Pusat Nasional Dr. Cipto Mangunkusumo (ID), Taipei Medical University (TW), Silpakorn University (TH), Riau University (ID)
Good health and well-being
Openalex Percentile: Top 17%
Drug-Induced Adverse Reactions
1.39
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