Medical genetics: A marker for Stevens–Johnson syndrome

  title={Medical genetics: A marker for Stevens–Johnson syndrome},
  author={Wen-Hung Chung and Shuen-Iu Hung and H S Hong and Mo-Song Hsih and Licheng Yang and H. C. Ho and Jer-Yuarn Wu and Yuan-Tsong Chen},
Stevens–Johnson syndrome and the related disease toxic epidermal necrolysis are life-threatening reactions of the skin to particular types of medication. Here we show that there is a strong association in Han Chinese between a genetic marker, the human leukocyte antigen HLA–B*1502, and Stevens–Johnson syndrome induced by carbamazepine, a drug commonly prescribed for the treatment of seizures. It should be possible to exploit this association in a highly reliable test to predict severe adverse… 
A Genetic Marker for Stevens-Johnson Syndrome
Genetic analyses in 44 patients who developed SJS in response to the antiseizure drug carbamazepine, and 101 patients who used CBZ without developing SJS, suggest individuals predisposed to develop SJS when exposed to specific agents are identified.
Stevens-Johnson syndrome and toxic epidermal necrolysis: an update on pharmacogenetics studies in drug-induced severe skin reaction.
Recent progresses in the Pharmacogenetics studies related to Stevens-Johnson syndrome/toxic epidermal necrolysis are summarized reporting the major genetic factors identified in the last years as associated with the disease and highlighting the use of some of these genomic variants in the clinical practice.
Defining Regional Differences in Drug‐Induced Stevens–Johnson Syndrome/Toxic Epidermal Necrolysis: A Tool to Improve Drug Safety?
Regional differences exist in the epidemiology of immunologically mediated adverse drug reactions, such as Stevens– Johnson syndrome/toxic epidermal necrolysis, but also in the way individual drugs are labeled, clues to the key drivers of these reactions, which are human leukocyte antigen (HLA) class I alleles.
A marker for Stevens-Johnson syndrome …: ethnicity matters
Preliminary results from a European study of 12 carbamazepine-induced SJS/TEN cases (RegiSCAR) show that although the HLA region may contain important genes for SJS, the Hla-B*1502 allele is not a universal marker for this disease and that ethnicity matters.
The association of HLA B*15:02 allele and Stevens–Johnson syndrome/toxic epidermal necrolysis induced by aromatic anticonvulsant drugs in a South Indian population
  • K. Devi
  • Medicine
    International journal of dermatology
  • 2018
The presence of HLA‐B*15:02 allele is considered a risk factor for development of Stevens–Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) in patients taking aromatic anticonvulsant drugs like
HLA-B genotyping to detect carbamazepine-induced Stevens-Johnson syndrome: implications for personalizing medicine.
Finding a strong genetic association between a particular human leukocyte antigen (HLA)-B allele and the reaction to a specific drug provides evidence that the pathogenesis of the severe cutaneous adverse drug reactions involves major histocompatibility complex-restricted presentation of a drug or its metabolites for T-cell activation.
Investigation into the multidimensional genetic basis of drug-induced Stevens-Johnson syndrome and toxic epidermal necrolysis.
A multivariate genetic analysis method is used for the first time to handle the heterogeneity of clinical presentation, drug etiology, ethnicity and gender in these adverse events of Stevens-Johnson syndrome and toxic epidermal necrolysis.
Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis: Associations, Outcomes, and Pathobiology-Thirty Years of Progress but Still Much to Be Done.
Although rare, Stevens-Johnson syndrome and toxic epidermal necrolysis remain among the most devastating of acute conditions involving the skin. In the past 30 years, tremendous progress has been
Medicolegal Consequences of Death due to Stevens Johnson Syndrome: A Case Report
An emphasis is given on progression of this life threatening condition, mode of death, responsibilities of the physician and legal as well as criminal consequences arise out of it while treating such cases.
The Genetics of Antiepileptic Drug–Induced Skin Reactions
Some antiepileptic drugs (AEDs) may cause allergic cutaneous reactions with significant morbidity and mortality, including Stevens–Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN). Many


HLA phenotypes and bullous cutaneous reactions to drugs.
Drug induced toxic epidermal necrolysis and Stevens-Johnson syndrome are weakly associated with HLA-B12. Among patients reacting to a given drug we observed stronger links, especially for HLA-A29;
Risk of Stevens-Johnson syndrome and toxic epider mal necrolysis during first weeks of antiepileptic therapy: a case-control study
SJS and TEN are associated with short-term therapy with phenytoin, phenobarbital, and carbamazepine, and the association with valproic acid seems to be confounded by concomitant short- term therapy with other causal drugs.
Erythema multiforme, Stevens–Johnson syndrome and toxic epidermal necrolysis in northeastern Malaysia
No study has been conducted in Kelantan, the northeastern state of Malaysia, to assess these cutaneous reactions to drugs, and toxic epidermal necrolysis (TEN) is mainly related to drugs.
Nevirapine and the risk of Stevens–Johnson syndrome or toxic epidermal necrolysis
In European countries the risk of SJS or TEN in the context of HIV infection appears to be associated with nevirapine, and it is suggested discontinuation of the drug as soon as any eruption occurs.
The spectrum of Stevens-Johnson syndrome and toxic epidermal necrolysis: a clinical classification.
  • J. Roujeau
  • Biology, Medicine
    The Journal of investigative dermatology
  • 1994
An international group of dermatologists proposed a classification based on the pattern of "EM-like lesions" (categorized as typical targets, raised or flat atypical targets, and purpuric macules) and on the extent of epidermal detachment, and whether all five categories proposed represent distinct etiopathologic entities will require further epidemiologic and laboratory investigations.
Toxic epidermal necrolysis in a burns centre: a 6-year review.
  • A. Khoo, C. Foo
  • Medicine
    Burns : journal of the International Society for Burn Injuries
  • 1996
It is the contention that the best results are obtained with treatment of the SJS-TEN patient in a burns centre with an internist, dermatologist and infectious disease specialist as part of the management team.
Cutaneous drug reactions.
Evidence that viral infection is an important predisposing factor for the development of cutaneous drug reactions upon drug administration is described, and the current knowledge of the type and mechanisms of cutaneously drug reactions to several categories of drugs is assessed.
Pharmacogenetics goes genomic
It seems increasingly likely that investment in Pharmacogenetics might be the most effective strategy for rapidly delivering the public health benefits that are promised by the Human Genome Project and related endeavours.
High association of an HL-A antigen, W27, with ankylosing spondylitis.
Abstract The frequencies of 24 HL-A antigens were examined in 40 patients with ankylosing spondylitis, 119 with rheumatoid arthritis, and 66 with gout. No significant deviation from control frequen...
HLA DNA typing and transplantation.
The increased use of DNA HLA typing in transplantation should help define the “rules” that govern the clinical outcomes of mismatched transplants and allow the identification of “permissible” (relatively well-tolerated) mismatches.