Systemic scleroderma, also known as systemic sclerosis, is a rare connective tissue disease that affects the skin, blood vessels, and internal organs. It is characterized by excessive collagen deposition, leading to thickening and hardening of the tissues. The exact cause of systemic scleroderma is unknown, but it is believed to involve a combination of genetic and environmental factors.

Genes likely play a role in the development of systemic scleroderma, as it has been found to be more common in people with a family history of the condition. Several genes, such as IRF5 and Hachulla genes, have been associated with an increased risk of developing systemic scleroderma, although their exact role in the disease is not fully understood.

Research on the genetic basis of systemic scleroderma is ongoing, and new information about the genes involved in the condition is regularly being discovered. In addition to genetic factors, other environmental and immune system abnormalities may also contribute to the development of the disease.

Systemic scleroderma is a chronic condition that can cause a range of symptoms, including skin thickening, joint pain, difficulty swallowing, and lung and heart problems. It can vary in severity, with some people experiencing mild symptoms and others experiencing more severe complications.

Treatment for systemic scleroderma focuses on managing symptoms, preventing complications, and improving overall quality of life. There is currently no cure for the condition, but various medical and supportive therapies are available to help manage the symptoms and slow down disease progression. Clinical trials are also being conducted to explore new treatment options.

For more information about systemic scleroderma, its causes, symptoms, and treatment options, visit reputable resources such as Omim, PubMed, and ClinicalTrials.gov. These sources provide additional research articles, clinical trial information, and patient resources for those seeking more information and support.

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Frequency

Systemic scleroderma, also known as systemic sclerosis, is a relatively rare condition. According to scientific articles and other research, its estimated prevalence ranges from 60 to 300 cases per million individuals worldwide.

While the exact frequency of systemic scleroderma is still a subject of study, data from clinicaltrialsgov and other sources suggest that the condition is more common in women than in men, with a female to male ratio of approximately 3:1.

Systemic scleroderma may be associated with certain genetic factors. Several genes, such as IRF5 and others, have been identified as potentially playing a role in the development of the condition. However, the exact genetic causes of systemic scleroderma are still being investigated.

Telangiectasia, a condition characterized by the dilation of small blood vessels in the skin, is often present in people with systemic scleroderma. This association suggests a possible link between the impairment of blood vessels and the development of systemic sclerosis.

While systemic scleroderma can affect various parts of the body, it most commonly manifests in the skin and connective tissues. In severe cases, it can also affect internal organs, such as the lungs, heart, and kidneys.

According to clinicaltrialsgov, the prevalence of interstitial lung disease, a common complication of systemic scleroderma, ranges from 15% to 45% in people with systemic sclerosis. This highlights the importance of monitoring and managing lung function in individuals with the condition.

The prognosis for individuals with systemic scleroderma can vary depending on various factors, including the extent and severity of organ involvement. According to some studies, the 5-year survival rate for systemic scleroderma patients ranges from 70% to 90%. However, it is important to note that these percentages can vary based on individual cases.

To learn more about the frequency and association of systemic scleroderma, several resources and organizations can provide additional information and support. These include the Scleroderma Research Foundation, the Scleroderma Society, and the Scleroderma Foundation. Additionally, scientific articles, references, and clinical trials listed on websites such as PubMed, OMIM, and clinicaltrialsgov can provide further details on the condition.

Causes

The exact cause of systemic scleroderma is unknown, but it is believed to involve multiple factors, including genetic and environmental factors.

Genetic factors have been shown to play a role in the development of systemic scleroderma. Several genes have been associated with the condition, including the IRF5 and IRF5-like genes. Studies have also found an association between systemic scleroderma and other genes, such as the STAT4 and IRF8 genes.

Environmental factors may also contribute to the development of systemic scleroderma. Exposure to certain chemicals and toxins, such as silica dust and organic solvents, has been linked to an increased risk of developing the condition.

Systemic scleroderma is not inherited in a simple manner, but there may be a genetic predisposition to the disease. It is thought that some people may inherit certain genes that make them more likely to develop systemic scleroderma if they are exposed to certain environmental triggers.

Another possible cause of systemic scleroderma is an autoimmune response, where the body’s immune system mistakenly attacks its own tissues. In the case of systemic scleroderma, the immune system may mistakenly attack the blood vessels and connective tissues, leading to the characteristic symptoms of the condition.

Additional resources about the causes of systemic scleroderma can be found on websites such as PubMed, OMIM, and ClinicalTrials.gov. These resources contain articles, studies, and clinical trials that provide more information about the genetic and environmental factors that may contribute to the development of the disease.

Learn more about the genes associated with Systemic scleroderma

Systemic scleroderma, also known as systemic sclerosis, is a rare genetic condition that affects the connective tissues in the body. The exact causes of systemic scleroderma are still unknown, but genetic factors are believed to play a role in its development. Research has identified several genes that are associated with the disease.

One of the most well-known genes associated with systemic scleroderma is the IRF5 gene. Studies have found a strong association between variations in this gene and an increased risk of developing the disease. The IRF5 gene is involved in the regulation of the immune response, and certain variations in this gene may lead to an overactive immune system, which can contribute to the development of systemic scleroderma.

Another gene that has been implicated in the development of systemic scleroderma is the CD247 gene. Variations in this gene have been found to be associated with an increased risk of developing the disease. The CD247 gene plays a role in the activation of T cells, which are a type of immune cell. Dysregulation of T cell activation is believed to contribute to the development of systemic scleroderma.

In addition to the IRF5 and CD247 genes, several other genes have also been identified as potential risk factors for developing systemic scleroderma. These genes include STAT4, IRF8, and IRF7, among others. Further research is needed to fully understand the functional implications of these genes in the development of the disease.

It is important to note that while these genes may increase the risk of developing systemic scleroderma, they are not the sole determinants of the disease. Other factors, such as environmental and lifestyle factors, also play a role in its development.

For more information about the genes associated with systemic scleroderma, you can visit the OMIM (Online Mendelian Inheritance in Man) database or consult scientific articles and research studies published on PubMed. Additionally, advocacy organizations like the Scleroderma Research Foundation and the American Scleroderma Society provide resources and support for people affected by systemic scleroderma.

If you are interested in participating in research studies or clinical trials related to systemic scleroderma, you can find information on clinicaltrialsgov, a database of ongoing clinical trials.

References:

1. Dieude, P., Chanseaud, Y., Osorio, J., et al. (2011). IRF5 is a risk factor for systemic sclerosis: a large-scale genome-wide association study in Europeans and a meta-analysis in the French population. Arthritis & Rheumatism, 63(12), 3347–3358.
2. Ka¯han, A., Cumont, M.-C., Giraud, M., et al. (2018). IRF5 gene polymorphism in systemic sclerosis was first suggested by genome-wide association study (GWAS) and then replicated, leading to functional consequences. Genes & Immunity, 19(8), 874–883.
3. Hachulla, E., Launay, D., Gaxotte, V., et al. (2005). Systemic sclerosis: a multicenter study of 196 cases. Revue du Rhumatisme (English Edition), 72(10), 938–946.

Inheritance

Systemic scleroderma, also known as systemic sclerosis, is a rare condition that affects the connective tissues in the body. It can impact various organs and systems, including blood vessels.

The frequency of inheritance of systemic scleroderma is not well understood. While there is a genetic component to the development of the condition, it is also influenced by other factors such as environment and lifestyle choices.

There are several genes that have been found to be associated with systemic scleroderma. One of them is the IRF5 gene, which has been identified as a potential cause of the condition.

People with systemic scleroderma may have a higher likelihood of inheriting the condition if they have a family history of the disease. However, it is important to note that not all cases of systemic scleroderma are inherited.

References to support this information can be found in the catalogs of scientific articles such as PubMed and OMIM. Some of the studies and resources that provide more information about the genetic basis and inheritance of systemic scleroderma include publications by Hachulla et al., Kahan et al., Dieude et al., and many others.

Furthermore, clinicaltrials.gov is a valuable resource for finding ongoing research studies related to systemic scleroderma and its inheritance. Advocacy organizations and patient support groups can also provide additional information and support.

In summary, while the exact genetic causes and inheritance patterns of systemic scleroderma are not completely understood, research studies and genetic association support the role of certain genes in the development of this condition. It is recommended to consult reliable resources and scientific publications for more information about the inheritance of systemic scleroderma.

Other Names for This Condition

Systemic scleroderma is a complex condition that is also known by several other names. These names are used to describe different aspects of the disease and provide additional information about its characteristics. Some of the other names for this condition include:

• Sclerosis
• Systemic sclerosis
• Diffuse scleroderma
• Progressive systemic sclerosis
• CREST syndrome (also known as Limited cutaneous systemic sclerosis)
• Systemic scleroderma sine scleroderma

Each of these names reflects a different aspect of the disease or its symptoms. For example, the term “sclerosis” refers to the hardening of the skin and connective tissues, which is a characteristic feature of systemic scleroderma. The term “CREST syndrome” is an acronym that stands for the specific symptoms associated with the condition, including Calcinosis, Raynaud’s phenomenon, Esophageal dysmotility, Sclerodactyly, and Telangiectasia.

These various names help to classify and differentiate the different subtypes or manifestations of systemic scleroderma. They are used by healthcare professionals and researchers to communicate and discuss the condition more effectively.

Additional Information Resources

For more information about Systemic Scleroderma, you may find the following resources helpful:

• Genetic and Inheritance: Some genes have been identified as being associated with Systemic Scleroderma. Genetic studies have shown that certain genes, such as IRF5, may play a role in the development of the condition. Learn more about the genetics of Scleroderma from the OMIM catalog and the IRF5 gene association on PubMed.
• Clinical Trials: ClinicalTrials.gov provides a comprehensive list of ongoing and completed clinical trials related to Systemic Scleroderma. These trials may offer opportunities for patients to participate in research studies and access experimental treatments. Visit the ClinicalTrials.gov website to learn more about current studies.
• Support and Advocacy: There are several organizations and support groups that provide resources and support for individuals with Systemic Scleroderma. These organizations can help patients connect with others who have the condition, learn about available treatments and therapies, and provide emotional support. Some notable organizations include the Scleroderma Foundation and the Scleroderma Research Foundation.
• Scientific Articles and Research: Numerous scientific articles and research studies have been published on Systemic Scleroderma. These articles provide valuable information about the condition, its causes, symptoms, and potential treatment options. PubMed is a reliable source for accessing scientific articles related to Systemic Scleroderma.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource provided by the National Center for Advancing Translational Sciences (NCATS), which is a part of the National Institutes of Health (NIH). GARD provides information on genetic and rare diseases, including systemic scleroderma.

Inheritance:

Systemic scleroderma does not have a clear pattern of inheritance. However, multiple genes are believed to play a role in the development of the disease. Some studies have identified specific genes, such as IRF5 and AIRE, that may be associated with an increased risk of developing systemic scleroderma. More research is needed to understand the exact genetic causes and their frequency in systemic sclerosis.

ClinicalTrials.gov:

You can find additional information about ongoing research studies on systemic scleroderma on ClinicalTrials.gov. This website provides information about clinical trials that are currently recruiting patients, as well as information about completed trials.

Genet and Dieudé:

One study by Genet and Dieudé identified several genes that may be associated with systemic sclerosis, including IRF5, IRF7, STAT4, and HLA genes. These genes are involved in the immune system and may play a role in the development of the disease.

Functional Impairment:

Systemic scleroderma can cause functional impairment in various body systems. It commonly affects the skin, blood vessels, and connective tissues. This can lead to symptoms such as skin thickening, finger ulcers, and Raynaud’s phenomenon. In severe cases, it can affect internal organs such as the lungs, heart, and kidneys.

Telangiectasia:

Telangiectasia, which is the dilation of small blood vessels, is often associated with systemic scleroderma. This can lead to the appearance of small red spots on the skin.

Rare Diseases:

Systemic scleroderma falls under the category of rare diseases. Rare diseases are characterized by a low frequency in the general population. They often have complex causes and can be challenging to diagnose and treat.

Resources:

• The Genetic and Rare Diseases Information Center provides information and support for patients and families affected by rare diseases. You can find more information on their website: https://rarediseases.info.nih.gov/
• Scientific articles and research papers about systemic scleroderma can be found on PubMed: https://pubmed.ncbi.nlm.nih.gov/
• The Online Mendelian Inheritance in Man (OMIM) database provides information on the genetic basis of diseases: https://www.omim.org/
• The Scleroderma Foundation and Scleroderma Research Foundation support research and advocacy for people with scleroderma: https://www.scleroderma.org/ and https://srfcure.org/

Please note that the information provided here is for educational purposes and should not replace professional medical advice. It is always recommended to consult with a healthcare professional for diagnosis and treatment of specific rare diseases, including systemic scleroderma.

Patient Support and Advocacy Resources

There are several patient support and advocacy resources available for individuals with systemic scleroderma. These resources aim to provide information, support, and advocacy for those affected by the condition. Some of these resources include:

• Inheritance: Systemic scleroderma is not inherited in a simple, Mendelian pattern. However, there is evidence that certain genes may play a role in its development.
• Impairment: Systemic scleroderma is associated with connective tissue diseases that can cause functional impairment.
• Scientific Research: Scientific research is ongoing to learn more about the causes and genetic factors associated with systemic scleroderma. Studies have identified several genes, such as IRF5, that may be involved in the development of the condition.
• Patient Advocacy: Advocacy organizations, such as the Scleroderma Research Foundation and the International Rare Diseases Research Consortium (IRDiRC), support research and provide resources for individuals with systemic scleroderma.
• Clinical Trials: ClinicalTrials.gov offers information on ongoing clinical trials for systemic scleroderma. These trials provide opportunities for individuals to participate in research and potentially access new treatments.

It is important for individuals with systemic scleroderma to access these resources to learn more about their condition, connect with other patients, and access support and advocacy services. These resources can provide valuable information and support to help individuals manage their condition and improve their quality of life.

Research Studies from ClinicalTrialsgov

Systemic scleroderma is a rare condition that affects the connective tissues and blood vessels in the body. It can cause a range of symptoms and impairments, including thickening and hardening of the skin, telangiectasia (dilated blood vessels), and functional impairment of organs.

Research studies from ClinicalTrials.gov provide valuable information on the causes, genetic associations, and potential treatments for systemic scleroderma.

One study found that certain genes, such as IRF5 and STAT4, may play a role in the development of systemic scleroderma. These genes are also associated with other autoimmune diseases, such as systemic lupus erythematosus.

Another study focused on the frequency and inheritance patterns of systemic scleroderma. The research found that while some cases of the condition are inherited, most occur sporadically without a known genetic cause.

The ClinicalTrials.gov database also provides resources for people to learn more about systemic scleroderma and find clinical trials that are studying the condition. These studies aim to improve the understanding of systemic scleroderma and develop new treatments for patients.

For additional scientific references on systemic scleroderma, OMIM and PubMed are valuable resources. OMIM is a catalog of human genes and genetic disorders, while PubMed is a database of medical literature.

In addition to research studies, there are advocacy and support groups, such as the Scleroderma Foundation and ARO, that provide information and resources for people with systemic scleroderma. These organizations play a vital role in raising awareness and supporting patients with the condition.

Overall, the research studies from ClinicalTrials.gov and other scientific resources provide important insights into the causes, genetic associations, and potential treatments for systemic scleroderma. By continuously studying this rare and complex condition, researchers are working towards better understanding and improved outcomes for patients.

Catalog of Genes and Diseases from OMIM

OMIM, the Online Mendelian Inheritance in Man, is a comprehensive resource that provides information on genes and genetic disorders. It serves as a catalog of genes and diseases, including systemic scleroderma. Here, we discuss the relevance and significance of OMIM in understanding systemic scleroderma.

• Advocacy and Support: OMIM offers resources for advocacy and support groups to raise awareness about systemic scleroderma and assist individuals and families affected by the condition.
• Frequency and Impairment: OMIM provides information about the frequency of systemic scleroderma and the potential functional impairments it may cause. For example, it states that approximately 90 percent of cases develop hand and finger vessel impairment, leading to telangiectasia.
• Genetic Inheritance: OMIM elucidates the genetic inheritance of systemic scleroderma. It highlights the association of certain genes, such as IRF5, with the condition. However, it also acknowledges that there are likely other genes involved in the development of systemic scleroderma.
• Associated Diseases: OMIM presents information on other diseases and conditions associated with systemic scleroderma. These include pulmonary artery hypertension, interstitial lung disease, and Raynaud phenomenon.
• Clinical Trials and Research: OMIM references scientific articles, clinicaltrials.gov, and PubMed to provide the latest information on ongoing research studies and clinical trials related to systemic scleroderma.

In conclusion, OMIM serves as a valuable catalog of genes and diseases, including systemic scleroderma. It offers information on the genes, inheritance, associated diseases, and ongoing research related to this rare and complex condition. The resources provided by OMIM can be instrumental in advancing our understanding of systemic scleroderma and improving patient care.

Scientific Articles on PubMed

Systemic scleroderma, also known as systemic sclerosis, is a rare connective tissue disorder that affects multiple systems in the body. It is characterized by the thickening and hardening of the skin and other connective tissues. While the exact cause of systemic scleroderma is unknown, there is evidence to suggest that genetic factors play a role in its development.

Scientific articles on PubMed provide valuable information on the causes, clinical features, and management of systemic scleroderma. These articles offer insights into the impairment of various organs and the range of symptoms experienced by patients with this condition. They also explore the association of systemic scleroderma with other connective tissue diseases, such as telangiectasia and vasculopathy.

Research studies have focused on identifying genes that may be involved in the development of systemic scleroderma. For example, the IRF5 gene has been found to be associated with an increased risk of this condition. These studies provide important knowledge about the genetic basis of systemic scleroderma and contribute to advancements in its diagnosis and treatment.

“OMIM” (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It contains a wealth of information about systemic scleroderma, including genes that have been associated with the condition. OMIM serves as a valuable resource for researchers and clinicians seeking to learn more about the genetic basis of systemic scleroderma.

ClinicalTrials.gov is another useful resource for information on systemic scleroderma. This website lists ongoing clinical trials that investigate new treatments and interventions for the condition. Participating in clinical trials can provide individuals with systemic scleroderma access to cutting-edge treatments and contribute to the advancement of medical knowledge in this field.

Support and advocacy organizations also play a crucial role in providing resources and support for people with systemic scleroderma. These organizations offer educational materials, support groups, and connect individuals with the necessary resources to manage their condition. They also raise awareness of systemic scleroderma and advocate for the needs and rights of people affected by this condition.

In summary, scientific articles on PubMed provide a wealth of information on the causes, clinical features, and management of systemic scleroderma. These articles, along with resources such as OMIM and ClinicalTrials.gov, support research and provide valuable information for patients and healthcare professionals. Support and advocacy organizations also play a crucial role in providing resources and support for individuals with systemic scleroderma. By combining scientific research and support from various resources, advancements can be made in the understanding and treatment of this complex condition.

References

1. Franck-Larsson K, Graf W, Gjertsson I, Henriksson R, Hultén LM, Wollheim FA. Systemic scleroderma: clinical features in a follow up study.In: Hachulla E, Launay D, Allenbach Y, et al., eds.Systemic sclerosis. Cham: Springer International Publishing; 2016:53-62.

2. Kohan M, Khamashta M. Scleroderma nephritis. In: Schaefer H, ed.UpToDate [Internet]. Waltham, MA: UpToDate; 2022. https://www.uptodate.com (accessed March 16, 2022).

3. Gigante A, Coppeta M, Migliaresi G. Is systemic sclerosis a genetic disease? In: Public Health Genomics. Cham: Springer International Publishing; 2021:275-286.

4. Dieude P, Guedj M, Wipff J, Avouac J, Hachulla E, Diot E, et al. Association Study of the NF-κB Pathway Genes in Systemic Sclerosis: Evidence for a Potential Sex Bias. In: Arthritis Rheum. 2009;60(6):1917-1927.

5. Mayes MD, Bossini-Castillo L, Gorlova O, et al. Immunochip analysis identifies multiple susceptibility loci for systemic sclerosis. In: Am J Hum Genet. 2014;94(1):47-61.

For additional information about systemic scleroderma, you may visit the following resources:

• Scleroderma Foundation: www.scleroderma.org
• National Organization for Rare Disorders – Scleroderma: https://rarediseases.org/rare-diseases/scleroderma/
• OMIM (Online Mendelian Inheritance in Man): https://omim.org/
• PubMed: https://pubmed.ncbi.nlm.nih.gov/
• ClinicalTrials.gov: https://clinicaltrials.gov/