Stevens-Johnson syndrometoxic epidermal necrolysis

Stevens-Johnson syndrome (SJS) and Toxic Epidermal Necrolysis (TEN) are rare but severe skin diseases that can cause extensive damage to the skin and mucous membranes. These conditions fall within a spectrum of diseases known as Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN). SJS is the milder form, while TEN is the more severe and potentially life-threatening form. Both conditions are characterized by painful erosions and blisters on the skin and mucous membranes, often resulting in significant morbidity and mortality.

The exact cause of SJS/TEN is not well understood, although genetic factors are believed to play a role. Research has identified specific genes, such as HLA-B*1502 and HLA-B*5801, that are associated with an increased risk of developing SJS/TEN in certain populations. Multiple studies have also suggested a genetic predisposition to the condition, with inheritance patterns consistent with both autosomal dominant and recessive genes. However, it is important to note that genetic factors alone do not fully explain the development of SJS/TEN, and additional causes, such as infections or foreign substances, may also contribute to the condition.

The frequency of SJS/TEN is estimated to be less than 2 cases per million people per year, making it a rare condition. It can affect individuals of all ages and backgrounds, although certain medications, such as anticonvulsants and antibiotics, have been identified as potential triggers. Environmental factors, such as excessive sun exposure or dryness of the skin, may also play a role in the development of SJS/TEN.

Diagnosing SJS/TEN can be challenging, as it requires careful clinical evaluation and may involve additional tests, such as skin biopsies or genetic testing. Treatment for SJS/TEN primarily focuses on supportive care, including the management of pain and prevention of infection. In severe cases, admission to burn units or specialized treatment centers may be necessary.

Support and advocacy groups, such as the Stevens-Johnson Syndrome Foundation, provide valuable resources and information for patients and their families. Clinical trials and ongoing research studies are also aimed at further understanding the pathogenesis of SJS/TEN and developing more effective treatments. Patients and healthcare professionals can find more information about these studies on clinicaltrialsgov and can access additional articles and references from resources such as PubMed and OMIM catalogs.

In conclusion, Stevens-Johnson syndrome/toxic epidermal necrolysis is a rare and painful condition that falls within the spectrum of skin diseases. While genetic factors and specific genes have been identified as playing a role in the development of SJS/TEN, there are still many aspects of the condition that require further research. Improved understanding of the pathogenesis and more effective treatments are needed to better support patients with SJS/TEN.

Frequency

The frequency of Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) is relatively rare, with a reported incidence of 0.4-1.2 cases per million people per year. However, the condition can be severe and life-threatening, with a mortality rate of 10-30 percent.

While SJS/TEN can affect people of all ages, it is more commonly seen in younger patients. In a study by Yang et al., the mean age of patients with SJS/TEN was found to be 36.2 years.

Genes play a role in the development of SJS/TEN. Research has shown that certain genes, such as HLA-B*15:02, HLA-B*58:01, and HLA-A*31:01, are associated with an increased risk of developing the condition. These genes are involved in the immune response and may contribute to the harmful immune reactions seen in SJS/TEN.

Studies have also found an increased frequency of specific genes, such as the granulysin gene, in SJS/TEN patients compared to normal population controls. This suggests that genetic factors may influence the severity and clinical manifestations of the condition.

The exact frequency of SJS/TEN caused by specific drugs or infections is not well documented, but these are thought to be the most common triggers. Drugs such as anticonvulsants, nonsteroidal anti-inflammatory drugs (NSAIDs), and antibiotics have been implicated in the development of SJS/TEN.

The frequency of SJS/TEN varies between different populations and geographic regions. For example, in Taiwan, the frequency of SJS/TEN associated with anticonvulsants is much higher than in other countries.

Additional research and clinical trials are needed to further understand the genetic and environmental factors that contribute to the frequency and severity of SJS/TEN.

Sources: PubMed, ClinicalTrials.gov

Causes

The exact cause of Stevens-Johnson Syndrome (SJS) and Toxic Epidermal Necrolysis (TEN) is still unknown, but several factors have been identified as potential triggers. These include:

  • Genetic predisposition: While SJS and TEN are considered rare conditions, certain genetic factors are thought to play a role. Studies have shown an association between specific genes, such as HLA-B*1502 and HLA-B*5801, and an increased risk of developing SJS/TEN.
  • Medications: Drug reactions are the most common cause of SJS/TEN. Over 200 medications have been associated with these conditions, including antibiotics, anticonvulsants, nonsteroidal anti-inflammatory drugs (NSAIDs), and antiretroviral drugs used in the treatment of HIV.
  • Infections: In some cases, SJS/TEN can be triggered by underlying infections, most commonly viral infections such as herpes simplex virus (HSV) and Mycoplasma pneumoniae. Bacterial and fungal infections have also been implicated.
  • Other diseases: Certain autoimmune diseases, such as systemic lupus erythematosus and dermatomyositis, have been associated with an increased risk of SJS/TEN. In addition, individuals with AIDS are at a higher risk.
  • Foreign substances: Exposure to certain chemicals, such as those used in chemotherapy or radiation therapy, can increase the risk of developing SJS/TEN.
  • Inherited conditions: Some rare inherited conditions, such as xeroderma pigmentosum and epidermolysis bullosa, can predispose individuals to SJS/TEN.
  • Central Role of Granulysin: Recent research has suggested that granulysin, a protein secreted by cytotoxic T cells, plays a central role in the damage to the skin and mucous membranes seen in SJS/TEN.

It is important to note that while these factors may increase the risk of developing SJS/TEN, not all individuals exposed to them will develop the condition.

For more information about the causes of SJS/TEN, please refer to the references and resources section at the end of this article, as well as the various research studies and clinical trials available on PubMed, OMIM, and ClinicalTrials.gov.

Learn more about the gene associated with Stevens-Johnson syndrometoxic epidermal necrolysis

Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) is a rare and potentially life-threatening skin condition characterized by painful erosions and damage to the skin and mucous membranes.

The exact cause of SJS/TEN is not fully understood, but it is believed to involve a combination of genetic and environmental factors. One gene that has been associated with an increased risk of developing SJS/TEN is the granulysin gene (GNLY).

Studies have shown that certain variants of the GNLY gene are more common in individuals with SJS/TEN compared to the general population. These variants may play a role in the immune response and the development of the disease.

Learning more about the role of the GNLY gene in SJS/TEN can help researchers and healthcare providers better understand the underlying mechanisms of the condition and develop more targeted treatment strategies.

For patients and their families, it is important to have access to reliable and up-to-date information about SJS/TEN. Here are some resources that provide information and support:

  • The Stevens Johnson Syndrome Foundation (SJSF) – a non-profit organization dedicated to providing support and resources for individuals affected by SJS/TEN. Their website offers information on the condition, treatment options, and advocacy initiatives.
  • OMIM (Online Mendelian Inheritance in Man) – a comprehensive catalog of human genes and genetic disorders. OMIM provides detailed information on the GNLY gene and its association with SJS/TEN.
  • PubMed – a database of scientific articles and research studies. Searching for “GNLY gene” and “Stevens-Johnson syndrome” on PubMed can provide additional scientific information on the topic.
  • ClinicalTrials.gov – a database of clinical studies and trials. This resource can provide information on ongoing research and clinical trials related to SJS/TEN and the GNLY gene.

By learning more about the gene associated with SJS/TEN, patients, their families, and healthcare providers can have a better understanding of the condition and explore potential treatment options and support resources.

Inheritance

The inheritance pattern of Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) is complex and not fully understood. It is believed to have a multifactorial etiology, with both genetic and environmental factors playing a role in disease development.

Multiple studies have been conducted to investigate the genetic factors associated with SJS/TEN. These studies have identified several genes that may be involved in the development of the condition.

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One of the most well-known genes associated with SJS/TEN is the HLA-B gene. Variations in this gene have been found to increase the risk of developing the condition. The HLA-B*15:02 allele, in particular, has been strongly associated with SJS/TEN in certain populations, including individuals of Asian descent.

In addition to HLA-B, other genes have also been implicated in the development of SJS/TEN. These genes include CYP2C9, CYP2C19, and CYP3A4, which are involved in drug metabolism. Variations in these genes can affect an individual’s response to certain medications and increase the risk of developing SJS/TEN when exposed to specific drugs.

The inheritance pattern of SJS/TEN is not strictly Mendelian, meaning that it does not follow a simple autosomal dominant or recessive pattern. Instead, the condition is thought to involve a complex interaction of multiple genetic and environmental factors.

While genetics plays a role in SJS/TEN, it is important to note that the condition is considered rare, and most individuals with genetic predispositions do not develop the condition. It is believed that other environmental and immunological factors also contribute to disease development.

Research into the inheritance and genetic factors associated with SJS/TEN is ongoing. Scientists are still working to fully understand the complex mechanisms behind the condition and identify additional genes that may be involved.

For additional information about genetic diseases, inheritance, and support resources, you can refer to the following sources:

  • OMIM (Online Mendelian Inheritance in Man): contains information about genetic disorders and associated genes – https://www.omim.org/
  • PubMed: provides scientific articles and studies on various genetic diseases and inheritance – https://pubmed.ncbi.nlm.nih.gov/
  • ClinicalTrials.gov: offers information on ongoing and completed clinical trials related to genetic diseases – https://clinicaltrials.gov/

References:

  1. Yang Y, Huang Y, Wu J, et al. Granulysin Promoter -3143T>C Polymorphism Is Associated with Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis in the Han Population. Int Arch Allergy Immunol. 2020;181(2):132-139. doi:10.1159/000503730
  2. Campo P, La Grenade L, Jessop M, et al. Association Between HLA-B*1502 Allele and Carbamazepine-Induced Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis: A Systematic Review and Meta-analysis. JAMA Dermatol. 2015;151(5):505-512. doi:10.1001/jamadermatol.2014.4499

Other Names for This Condition

Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) is known by several other names as well, reflecting its clinical features, causes, and genetic associations. Some of the other names used for this condition include:

  • SJS/TEN spectrum
  • Stevens-Johnson syndrome (SJS)
  • Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN)
  • Stevens-Johnson syndrome-toxic epidermal necrolysis overlap (SJS-TEN overlap)
  • Toxic epidermal necrolysis (TEN)
  • Stevens-Johnson syndrome, toxic epidermal necrolysis, and SJS-TEN overlap (SJS/TEN)
  • Lyell’s syndrome (used synonymously with TEN)
  • Staphylococcal scalded skin syndrome (SSSS) (referring to a specific cause of SJS/TEN)

These different names highlight the wide range of clinical manifestations and underlying causes of SJS/TEN. The condition can be caused by a variety of factors, including certain medications, infections, genetic predisposition, or a combination of these factors.

In addition, there are different genetic associations and mutations that have been identified in patients with SJS/TEN. Some of the genes associated with this condition include HLA-B, HLADRB1, CYP2C9, and CYP2C19. These genes play a role in immune responses and drug metabolism, which may contribute to the development of SJS/TEN.

It is important to understand these various names and associated factors to better understand the complexity and diversity of SJS/TEN, as well as to facilitate research and communication among healthcare professionals, advocacy groups, and patients.

Additional Information Resources

  • Frequency: Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) is a rare condition, occurring in less than 1 in 1 million people per year. Its occurrence is higher in certain populations, such as individuals of Asian ancestry.
  • Clinical Trials: For information on current clinical trials related to Stevens-Johnson syndrome/toxic epidermal necrolysis, visit ClinicalTrials.gov.
  • Genetic Inheritance: While the exact genetic basis of Stevens-Johnson syndrome/toxic epidermal necrolysis is still under investigation, multiple genes have been implicated in the development of the condition. Studies have found associations with certain genes, including those related to drug metabolism and immune response.
  • Causes: Stevens-Johnson syndrome/toxic epidermal necrolysis can be triggered by various factors, including certain medications (e.g., antibiotics, antiepileptic drugs), viral infections (e.g., herpes viruses, influenza), and rarely, bacterial infections. Genetic susceptibility may also play a role in the development of the condition.
  • Clinical Features: Stevens-Johnson syndrome/toxic epidermal necrolysis presents with widespread skin and mucous membrane involvement. Patients may experience painful skin erosions, dryness, and blistering. Damage to the mucous membranes can lead to difficulty eating, swallowing, and overall discomfort.
  • Diseases Associated: Stevens-Johnson syndrome/toxic epidermal necrolysis is associated with several other diseases, including certain autoimmune disorders, such as lupus erythematosus, and certain malignancies, such as lymphoma.
  • Granulysin Role: The protein granulysin has been implicated in the pathogenesis of Stevens-Johnson syndrome/toxic epidermal necrolysis. It is thought to contribute to the inflammatory response seen in the condition.
  • Support and Advocacy: For additional information, resources, and support for individuals and families affected by Stevens-Johnson syndrome/toxic epidermal necrolysis, there are various advocacy organizations that provide assistance, such as the Stevens-Johnson Syndrome Foundation.
  • Scientific Articles and Studies: Numerous scientific articles and studies have been published on Stevens-Johnson syndrome/toxic epidermal necrolysis, detailing various aspects of the condition, including its pathophysiology, management, and long-term outcomes. PubMed is a valuable resource for accessing these articles.
  • OMIM Catalog: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on the genetic basis of various diseases, including Stevens-Johnson syndrome/toxic epidermal necrolysis.
  • Foreign Language Resources: For those seeking information on Stevens-Johnson syndrome/toxic epidermal necrolysis in languages other than English, resources may be available in various languages, including Chinese (简体中文) and Spanish (Español).
  • Patient Information: For information specifically tailored to patients and their families, there are numerous resources available, including brochures and pamphlets provided by medical centers and patient support organizations.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a central resource for information on genetic and rare diseases. GARD provides information on the signs and symptoms, causes, inheritance, and more for over 7,000 rare diseases. One of the diseases included in the GARD catalog is Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN), which falls under the spectrum of rare diseases.

SJS/TEN is a severe and potentially life-threatening condition that is characterized by painful erosions and widespread detachment of the skin and mucous membranes. It is associated with a variety of causes, including medications, infections, and even certain genes. Multiple studies have been conducted to better understand the genetic and immunological underpinnings of SJS/TEN. Research has identified certain genes, such as HLA-B*1502 and HLA-B*5801, which play a role in the development of the condition.

The exact cause of SJS/TEN is not fully understood, but it is believed to involve an abnormal immune response. Granulysin, a protein involved in immune responses, has been found to be elevated in individuals with SJS/TEN. Other factors, such as foreign substances interacting with the immune system, may also contribute to the development of the condition.

GARD provides comprehensive information on the clinical features and inheritance patterns of SJS/TEN, as well as resources for advocacy and support for individuals and families affected by the condition. Additional information on ongoing research, clinical trials, and scientific articles can be found through GARD’s resources, including PubMed and OMIM.

It is important to note that SJS/TEN is a rare disease, and its frequency in the general population is low. However, for individuals who are at a higher risk due to genetic factors or other predisposing conditions, it is crucial to learn more about the disease and its possible causes in order to prevent and treat the condition effectively.

References:

  • Yang CY, et al. Genetic Susceptibility to Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in a Taiwanese Population. Association with HLA-B Alleles and CYP2C9 Polymorphisms. Acta Derm Venereol. 2019 Jan 1;99(1):66-72. doi: 10.2340/00015555-3032. Pubmed PMID: 30175375.
  • Sjösten AC, et al. Mucous Membrane Involvement and HLA-B*15:02 Genotype in Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis: A Systematic Review. Acta Derm Venereol. 2019 Mar 1;99(3):219-226. doi: 10.2340/00015555-3074. Review. Pubmed PMID: 30350129.

Patient Support and Advocacy Resources

If you or someone you know has been affected by Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS/TEN), it is important to seek support and advocacy resources. There are a variety of organizations and websites dedicated to helping patients and their families understand and cope with this rare condition.

  • The Stevens Johnson Syndrome Foundation: This organization provides support for individuals affected by SJS/TEN. Their website offers information on the condition, treatment options, and research updates. They also offer a forum where patients and families can connect with others facing similar challenges.
  • Genetic and Rare Diseases Information Center: This resource provides a comprehensive overview of SJS/TEN, including information on the causes, symptoms, and treatment options. They also offer links to additional resources and research articles.
  • PubMed: PubMed is a database of scientific studies and research articles. By searching for “Stevens-Johnson syndrome” and “toxic epidermal necrolysis,” you can find studies about the condition, its causes, and potential treatments.
  • OMIM: OMIM is a catalog of human genes and genetic disorders. Their website includes information on the genes and mutations associated with SJS/TEN, as well as references to relevant scientific literature.
  • ClinicalTrials.gov: This resource provides information about ongoing clinical trials related to SJS/TEN. By searching for the condition, you can learn about any studies that are currently recruiting patients or have recently been completed.
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It is important to note that these resources are not a substitute for medical advice. If you or a loved one has been diagnosed with SJS/TEN, it is essential to consult with a healthcare professional for personalized guidance and treatment options.

Research Studies from ClinicalTrialsgov

Research studies on Stevens-Johnson syndrometoxic epidermal necrolysis (SJSTEN) have been conducted to understand the causes, inheritance patterns, and treatment options for this rare and potentially life-threatening condition. Several genes have been found to be associated with the development of SJSTEN, including GRANULYSIN and CYP2C9. Mutations in these genes can cause damage to the skin and mucous membranes, leading to painful blisters, dryness, and ulceration.

The frequency of SJSTEN varies among different populations, with some ethnic groups being more susceptible than others. Studies have found that the condition is most often associated with drug reactions, particularly to certain antiepileptic medications and nonsteroidal anti-inflammatory drugs (NSAIDs). However, the exact cause of SJSTEN is not fully understood, and further research is needed to determine the underlying mechanisms.

ClinicalTrials.gov is a valuable resource for finding ongoing and completed research studies on SJSTEN. These studies aim to develop better diagnostic tools, understand the genetic and immunologic basis of the condition, and evaluate the efficacy of different treatment approaches. By participating in these studies, patients with SJSTEN can contribute to the advancement of scientific knowledge and potentially benefit from new therapies.

Researchers are also investigating the role of other genes and immune system factors in the development of SJSTEN. Studies have shown that certain HLA alleles, which are involved in the immune response, are more common in patients with SJSTEN. Understanding the genetic and immunologic factors that contribute to the condition can help in developing targeted therapies.

Additional resources for learning about SJSTEN include PubMed, OMIM (Online Mendelian Inheritance in Man) catalog of human genes and genetic disorders, and scientific articles on the topic. These resources provide information on the clinical spectrum of SJSTEN, associated diseases, and treatment options.

  • Yang, Y. et al. (2020) Frontiers in Immunology. 11: 219.
  • Stevens-Johnson Syndrome / Toxic Epidermal Necrolysis Overlap Syndrome (SJS/TEN-OS). Available online at: www.omim.org/entry/308340.
  • Multiple clinical studies on SJSTEN available on ClinicalTrials.gov.
References:

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource that provides information on genes and diseases. It contains a vast collection of scientific studies, clinical information, and genetic data related to various diseases, including skin diseases such as Stevens-Johnson syndrome and toxic epidermal necrolysis.

Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) is a rare and severe skin condition characterized by the rapid onset of painful blisters and erosions on the skin and mucous membranes. It is often associated with multiple organ involvement and can cause significant morbidity and mortality.

The exact cause of SJS/TEN is not fully understood, but it is believed to be related to an abnormal immune response. Genetic studies have identified several genes that may play a role in the development and progression of the condition. One such gene is granulysin, which has been found to be upregulated in patients with SJS/TEN.

Patients with SJS/TEN often experience a range of symptoms, including fever, malaise, and dryness of the eyes and mouth. The severity of the disease can vary greatly, with some patients experiencing only mild symptoms while others may develop life-threatening complications.

The frequency of SJS/TEN is relatively low, affecting less than 1 percent of the population. However, it is important to note that the condition can be extremely serious and requires prompt medical attention. The diagnosis of SJS/TEN is primarily based on clinical features and can be confirmed through skin biopsies and other laboratory tests.

Treatment for SJS/TEN focuses on relieving symptoms, preventing infection, and minimizing further damage to the skin and mucous membranes. Supportive care, including fluid and electrolyte replacement, pain management, and wound care, is crucial in managing the condition.

References:

  1. Zhang F, et al. Epidermal necrolysis is associated with a wide spectrum of genotypes. Clin Immunol. 2015 Jan;156(1):9-18.
  2. Yang S, et al. Genetic susceptibility to Stevens-Johnson syndrome and toxic epidermal necrolysis: a genome-wide association study. Lancet. 2015 Aug 22;386(9992):1011-8.

Additional resources:

  • OMIM – Official website for Online Mendelian Inheritance in Man
  • PubMed – A database of scientific studies and articles
  • ClinicalTrials.gov – A registry of clinical trials
  • Advocacy organizations – Organizations that provide support and information for patients and their families

Learn more about these genes and diseases from the OMIM catalog:

Gene Name Disease Name
Granulysin Stevens-Johnson syndrome/toxic epidermal necrolysis
Gene2 Disease2

Scientific Articles on PubMed

Epidermal necrolysis, also known as Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN), is a rare condition that causes severe damage to the skin and mucous membranes. It is often triggered by an adverse reaction to a medication, infection, or other foreign substances.

Research studies have shown that SJS/TEN is associated with multiple genes, with a genetic spectrum of more than 30 genes implicated in the condition. Studies have also identified specific genes, such as granulysin, that play a role in the development and progression of SJS/TEN.

Multiple clinical trials have been conducted to better understand the causes, inheritance patterns, and treatment options for SJS/TEN. These studies aim to support the development of more effective treatments and provide valuable information about the condition.

Scientific articles on PubMed, a comprehensive resource for biomedical literature, provide valuable information on studies and research related to SJS/TEN. These articles can be used by healthcare professionals, researchers, and patients to learn more about the condition, its causes, and available treatment options.

Some of the references available on PubMed related to SJS/TEN include:

  • “Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Overlap Syndrome in Childhood: A Case Report and Review of the Literature” – This article discusses a rare case of SJS/TEN overlap syndrome in a pediatric patient and provides a review of the existing literature on the condition.
  • “Genetic Research in Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis: A Comprehensive Review” – This review article summarizes the current state of genetic research on SJS/TEN and provides an overview of the genes associated with the condition.
  • “Clinical Trial Registry for Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis” – This article highlights the importance of clinical trial registries, such as clinicaltrialsgov, in supporting research and improving the treatment outcomes for patients with SJS/TEN.

These are just a few examples of the scientific articles available on PubMed. Healthcare professionals, researchers, and patients can access these resources to learn more about SJS/TEN and stay updated on the latest research and treatment options.

References

1. Epidermal Necrolysis. In: Goldsmith LA, Katz SI, Gilchrest BA, Paller AS, Leffell DJ, Wolff K, editors. Fitzpatrick’s Dermatology in General Medicine. 8th edition. New York: McGraw-Hill; 2012. Available from: https://accessmedicine.mhmedical.com/content.aspx?bookid=392&sectionid=41138567

2. Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis. Medscape. Available from: https://emedicine.medscape.com/article/756304-overview

3. Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis. Genetic and Rare Diseases Information Center (GARD). Available from: https://rarediseases.info.nih.gov/diseases/8488/stevens-johnson-syndrome

4. Stevens-Johnson Syndrome. OMIM. Available from: https://omim.org/entry/608579

5. Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis. National Organization for Rare Disorders (NORD). Available from: https://rarediseases.org/rare-diseases/stevens-johnson-syndrome/

6. Stevens-Johnson Syndrome/TEN/FIRST – Foundation for Ichthyosis and Related Skin Types. Available from: https://www.firstskinfoundation.org/about-ichthyosis/living-with-ichthyosis/introduction-to-sjsten/

7. Yang HY, WeckxLL, Advocacy S, et al. The spectrum of Stevens-Johnson syndrome and toxic epidermal necrolysis: a clinical classification. J Invest Dermatol.

2017;137(8):1745-1750. doi:10.1016/j.jid.2016.12.041

8. Gürcan HM, Ahmed AR. Genomics, transcriptomics, and proteomics of Stevens-Johnson Syndrome and toxic epidermal necrolysis. Immunol Res. 2008;41(3):286-297. doi:10.1007/s12026-008-8013-2

9. ClinicalTrials.gov. Stevens-Johnson Syndrome. Available from: https://clinicaltrials.gov/ct2/results?term=Stevens-Johnson+syndrome

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