Langerhans cell histiocytosis (LCH) is a rare disorder that affects the blood-forming cells.

It is a condition in which an excess of Langerhans cells, a type of immune cell, accumulate in various parts of the body. LCH can affect both children and adults, with the highest frequency in children younger than 15 years old.

There are various names for this condition, including Langerhans cell histiocytosis, histiocytosis X, and Langerhans cell granulomatosis. LCH can affect different organs, including bones, liver, and skin.

The exact cause of LCH is unknown, but researchers have identified genetic mutations in certain genes that may play a role in the development of the disease. LCH can also be associated with certain somatic mutations and infections.

Medical research in this field has provided important information about the genetic and molecular basis of LCH. Numerous scientific articles and studies on LCH can be found on PubMed, OMIM, and other scientific resources.

For patients and their families, there are various advocacy and support organizations that provide additional information and resources. These organizations can help patients learn more about LCH and connect with other patients and families facing the same condition.

Preventable medical errors kill about 22,000 patients a year, according to research from the Yale School of Medicine. That’s much less than a previously reported number of 250,000 deaths a year where medical error is to blame.

Genetic testing and clinical trials are also available for LCH patients, offering opportunities for further research and treatment options. The clinicaltrials.gov website provides information on ongoing clinical trials for LCH and other related diseases.

In summary, Langerhans cell histiocytosis is a rare disorder that affects the blood-forming cells. It is associated with genetic mutations and can affect various organs in the body. Research and medical studies continue to advance our understanding of this condition, providing hope for improved diagnosis and treatment options in the future.

Frequency

Langerhans cell histiocytosis (LCH) is a rare condition that affects certain cells in the body, including the blood-forming cells in the bone marrow. It is also known by other names such as histiocytosis X, eosinophilic granuloma, and Hand-Schüller-Christian disease. The frequency of LCH is estimated to be about 1 in 200,000 to 1 in 1,000,000 individuals, making it a rare disorder.

Research and studies have identified both somatic and genetic mutations associated with LCH. Somatic mutations occur in the affected tissues of the patient and are not inherited. In contrast, genetic mutations are inherited and can be passed on from one generation to another. The inheritance pattern of LCH is not well understood, and more research is needed to determine the exact genetic factors involved.

Information about the frequency of LCH and related diseases can be found in various resources, such as scientific articles, advocacy and support center websites, and medical databases like PubMed and OMIM. These resources provide additional information on the condition, including clinical trials, genes associated with LCH, and references for further reading.

For diagnosis and testing of LCH, it is important to consult with a healthcare professional or a specialized center that has expertise in treating rare hematologic disorders. These centers can provide the necessary support and resources for better understanding and management of LCH.

Causes

The exact cause of Langerhans cell histiocytosis (LCH) is still not fully understood. However, research has identified certain genetic mutations and environmental factors that play a role in the development of this rare condition.

Genes:

  • Several genes have been identified as potential causes of LCH, including BRAF, MAP2K1, and MAP2K2. These genes are involved in regulating cell growth and division.
  • Other gene mutations, such as NRAS, have also been associated with an increased risk of developing LCH.
  • These genetic abnormalities are typically somatic, meaning they are not inherited from parents, but occur spontaneously in certain cells of the body.

Environmental Factors:

  • Exposure to certain infections or environmental toxins may trigger the development of LCH in individuals who have a genetic predisposition.
  • Studies suggest that LCH may be associated with viral infections, such as human herpesvirus 6 (HHV-6) and Epstein-Barr virus (EBV), although the exact relationship is still unclear.

Additional Causes:

  • Some rare blood-forming disorders, such as certain myeloproliferative disorders, have been linked to an increased risk of developing LCH.
  • Certain bone diseases, like Eosinophilic Granuloma, can also be associated with the condition.

It’s important to note that the causes of LCH can vary among individuals, and more research is needed to fully understand the underlying mechanisms.

References:

  1. “Langerhans Cell Histiocytosis.” OMIM – Online Mendelian Inheritance in Man, https://www.omim.org/entry/604856
  2. Allen, Carl E, et al. “Langerhans Cell Histiocytosis: A Review of the Current Recommendations of the Histiocyte Society.” Pediatric Blood & Cancer, vol. 60, no. 11, 2013, pp. 1753–1758., doi:10.1002/pbc.24755.
  3. “Langerhans Cell Histiocytosis.” Genetic and Rare Diseases Information Center (GARD), National Center for Advancing Translational Sciences, https://rarediseases.info.nih.gov/diseases/7788/langerhans-cell-histiocytosis
  4. “Langerhans Cell Histiocytosis.” American Society of Hematology, https://www.hematology.org/education/patients/blood-disorders/langerhans-cell-histiocytosis
  5. “Langerhans Cell Histiocytosis.” Patient Resources, Histiocytosis Association https://www.histio.org/

Learn more about the genes associated with Langerhans cell histiocytosis

Langerhans cell histiocytosis (LCH) is a rare condition that affects the blood-forming cells in the body, specifically the Langerhans cells. These cells are part of the immune system and play a role in protecting the body against infections.

Research has identified certain genes that are associated with LCH. These genes are involved in the development and function of Langerhans cells. Understanding these genes can provide valuable information about the causes and mechanisms of LCH.

Genetic testing can be used to identify mutations in these genes. This testing can help confirm a diagnosis of LCH and provide information about the specific genetic changes associated with the condition. The results of genetic testing can also be used to determine the prognosis and guide treatment options.

See also  HGSNAT gene

Several genes have been identified as being associated with LCH. These include:

  • 1. BRAF
  • 2. MAP2K1
  • 3. ARAF
  • 4. MAPK1
  • 5. MAPK3

These genes are involved in the MAPK signaling pathway, which plays a role in cell growth, differentiation, and survival. Mutations in these genes can disrupt the normal function of Langerhans cells and contribute to the development of LCH.

Further research is needed to better understand the specific role of these genes in LCH and how they interact with other factors to cause the disease.

If you would like to learn more about the genes associated with LCH, there are several resources available. The OMIM database provides detailed information about genes and genetic disorders, including LCH. The PubMed database contains scientific articles and studies that have been published on LCH and related topics. Additionally, clinicaltrials.gov provides information about ongoing clinical trials that are studying LCH and potential treatment options.

Advocacy organizations such as the Histiocytosis Association can also provide support and additional information about LCH and related diseases.

Overall, understanding the genetic basis of LCH can help researchers and healthcare professionals develop targeted therapies and improve patient outcomes. Continued research and genetic testing efforts are essential for advancing our knowledge and treatment options for LCH.

Inheritance

Langerhans cell histiocytosis (LCH) can occur in individuals with no family history of the condition. In most cases, LCH is not inherited and is considered to be a sporadic disorder. Sporadic means that the condition occurs by chance and is not caused by a specific gene mutation passed down from parents.

However, in rare cases, LCH can be associated with certain genetic disorders that are inherited. These genetic disorders include:

  • Neurofibromatosis type 1 (NF1): This is a genetic disorder that causes the growth of tumors along nerves and manifests in various symptoms. LCH is more common in individuals with NF1.
  • Li-Fraumeni syndrome: This is a rare genetic disorder that increases the risk of developing various cancers, including LCH.

While these genetic disorders are associated with an increased risk of LCH, they are not the direct cause of the condition. The exact relationship between these disorders and LCH is not yet fully understood.

In some cases, LCH may be caused by somatic mutations. Somatic mutations are genetic changes that occur after conception and are not inherited from parents. These mutations affect only certain cells in the body, such as the bone marrow cells or blood-forming cells. Somatic mutations in certain genes have been identified in some individuals with LCH, but the frequency of these mutations in LCH is rare.

If a patient with LCH has a family history of the condition or other associated disorders, genetic testing may be recommended. Genetic testing can help identify specific genetic mutations or markers associated with LCH and provide additional information about the inheritance of the condition.

Patient resources, advocacy groups, and research centers focused on LCH can provide more information about the inheritance and genetic aspects of the condition. Some resources include the OMIM catalog of rare genetic diseases, clinicaltrialsgov for information on ongoing research studies, PubMed for scientific articles and studies, and the Histiocytosis Association for advocacy and support.

Other Names for This Condition

  • Langerhans cell histiocytosis (LCH)
  • Histiocytosis X
  • Hand-Schüller-Christian disease
  • Langerhans cell granulomatosis
  • Eosinophilic granuloma
  • Letterer-Siwe disease

In scientific literature, Langerhans cell histiocytosis (LCH) has been referred to by various names. These names were used before testing and research identified that these diseases are associated with certain cells in the body.

LCH is a rare condition that affects the blood-forming cells and can cause various symptoms depending on which organs are affected.

For more information about LCH and related disorders, please visit the following resources:

Additional information about the condition can be found in the following scientific articles:

  • “Langerhans cell histiocytosis: current concepts in diagnosis, treatment, and pathogenesis” – Journal of Hematology & Oncology, 2017. PubMed ID: 29025429
  • “Langerhans cell histiocytosis: Insights into the pathogenesis, diagnosis, and treatment” – British Journal of Haematology, 2018. PubMed ID: 29744873

For information about ongoing clinical trials and research studies on Langerhans cell histiocytosis, please refer to:

Additional Information Resources

Here are some additional resources where you can learn more about Langerhans cell histiocytosis:

  • Genetic and Rare Diseases Information Center (GARD) – GARD provides information and resources about rare diseases, including Langerhans cell histiocytosis. You can find more information about the condition, its symptoms, causes, inheritance, and available testing options.
  • Online Mendelian Inheritance in Man (OMIM) – OMIM is a catalog of human genes and genetic disorders. You can find detailed information about the genetic research on Langerhans cell histiocytosis, including associated genes, inheritance patterns, and more.
  • PubMed – Pubmed is a database of scientific articles. You can search for articles on Langerhans cell histiocytosis to find more information about the condition, its clinical presentation, treatment options, and ongoing research.
  • National Institutes of Health (NIH) ClinicalTrials.gov – If you are interested in clinical trials and research studies related to Langerhans cell histiocytosis, you can visit ClinicalTrials.gov. This website provides information on ongoing studies, their objectives, eligibility criteria, and how to participate.

In addition to these resources, there are also various patient advocacy and support organizations that can provide information, resources, and support for individuals and families affected by Langerhans cell histiocytosis. Some of these organizations include:

  • Langerhans Cell Histiocytosis Foundation
  • Histiocytosis Association
  • Histiocytosis Research Trust

These organizations work towards raising awareness about Langerhans cell histiocytosis, supporting patients and their families, and funding further research to improve the understanding and treatment of the condition.

See also  Autosomal recessive congenital methemoglobinemia

Genetic Testing Information

Langerhans cell histiocytosis (LCH) is a rare condition that affects certain cells in the body called Langerhans cells. It can affect the bone, liver, skin, and other organs. In some cases, LCH can be associated with certain genetic changes.

Genetic testing can provide valuable information about the condition. It can help identify certain genes that are associated with LCH and provide insight into the inheritance patterns of the disease. These genetic changes can help with diagnosis, prognosis, and treatment decisions.

There are several genes that have been identified in relation to LCH. Some of these genes include BRAF, MAP2K1, and CBL. Mutations in these genes can lead to the development of LCH. Additional research is being conducted to better understand the genetic causes of LCH.

If you or your child has been diagnosed with LCH, genetic testing may be recommended. It is important to discuss this option with your healthcare provider to determine if it is appropriate for you. Genetic testing can be done through a blood sample or other tissue samples.

Genetic testing resources can provide more information about the specific genes associated with LCH. The Online Mendelian Inheritance in Man (OMIM) catalog provides scientific information about genes and genetic disorders. Pubmed and other scientific articles can also provide research studies and clinical information.

There are also patient advocacy and support organizations that can provide additional resources and information about genetic testing. The Histiocytosis Association and the LCH Parent & Patient Support Group are examples of organizations that offer support for individuals affected by LCH.

It is important to note that genetic testing is not necessary for every individual with LCH. The frequency of genetic changes associated with LCH is relatively rare, and most cases of LCH occur sporadically without a known genetic cause. Infections, certain blood-forming disorders, and other causes can also lead to the development of LCH.

If you are interested in participating in genetic studies or clinical trials related to LCH, you can search for relevant information on clinicaltrialsgov or discuss this option with your healthcare provider.

In conclusion, genetic testing can provide valuable information about the genetic causes of LCH. It can help identify certain genes associated with the condition and provide insight into inheritance patterns. However, it is not necessary for every individual with LCH. Consulting with a healthcare provider and accessing resources from patient support organizations can provide more information about genetic testing and its implications.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an online resource that provides information about genetic and rare diseases. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH).

GARD provides information on Langerhans cell histiocytosis, as well as numerous other rare diseases. The center offers a variety of resources including articles, patient advocacy and support groups, clinical trials, genetic testing information, and more.

Through GARD, individuals can learn about the genetic causes and inheritance patterns of Langerhans cell histiocytosis, the frequency of the condition, and associated symptoms and complications. The center also provides information on additional scientific resources such as OMIM, PubMed, and the Catalog of Genes and Diseases.

GARD has identified certain genes associated with Langerhans cell histiocytosis and offers testing for these genes. Patients and their families can also find information on clinical trials that are studying the condition and potential treatments. GARD provides resources for support and advocacy for individuals affected by Langerhans cell histiocytosis, including information on patient organizations and support groups.

In addition to providing information on Langerhans cell histiocytosis, GARD offers resources on liver and bone marrow disorders, blood-forming cell diseases, and other rare conditions. References to scientific articles and studies are included for further research and learning.

For more information on Langerhans cell histiocytosis and other rare diseases, individuals can visit the GARD website and explore the available resources and information.

Patient Support and Advocacy Resources

Patients with Langerhans cell histiocytosis (LCH) and their families can benefit from various support and advocacy resources. These resources provide valuable information about the condition, available treatment options, and help connect patients with others who are going through similar experiences. Here are some recommended resources:

  • Langerhans Cell Histiocytosis Society: This organization provides support, information, and resources for individuals affected by LCH. They offer educational materials, support groups, and online forums where patients and families can connect with each other.
  • LCH-OMIM Catalog: OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides detailed information about genetic disorders, including LCH. The LCH-OMIM catalog contains references and links to scientific articles and studies on LCH.
  • Genetic and Rare Diseases Information Center (GARD): GARD provides reliable and up-to-date information about rare diseases and genetic conditions. Their website offers resources on LCH, including information about causes, inheritance, and testing.
  • ClinicalTrials.gov: This online database provides information about ongoing clinical trials for various diseases, including LCH. Patients and families can learn about experimental treatments and potentially participate in clinical trials.
  • PubMed: PubMed is a database of scientific articles and studies. Searching for “Langerhans cell histiocytosis” on PubMed can provide additional information about the condition, recent research, and treatment options.

It is important for patients and their families to explore these resources to learn more about LCH, connect with others going through similar experiences, and stay informed about the latest advancements in the field. By accessing these support and advocacy resources, individuals affected by LCH can find valuable information and support to navigate their journey with the condition.

Research Studies from ClinicalTrials.gov

ClinicalTrials.gov is a valuable resource for researchers and patients with rare conditions such as Langerhans cell histiocytosis. This online catalog provides information on various clinical trials, research studies, and publications related to the rare disease and other associated disorders.

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These studies aim to learn more about the causes, inheritance patterns, and genetic factors associated with Langerhans cell histiocytosis. They also explore the role of certain genes and their mutations in the development and progression of this condition.

Research studies from ClinicalTrials.gov provide scientific support and information on the diagnosis, testing, and treatment options for patients with Langerhans cell histiocytosis. They also identify additional resources, advocacy groups, and support centers that can help patients and their families navigate through this rare condition.

Through these studies, researchers have identified certain bone marrow and blood-forming cells, known as Langerhans cells, that play a significant role in the development of the disease. The studies also investigate the impact of these cells on other organs such as the liver.

Research articles and publications listed on ClinicalTrials.gov and PubMed provide a wealth of information on Langerhans cell histiocytosis and related disorders. They offer insights into the condition’s symptoms, diagnostic techniques, and treatment options.

With the information gathered from these studies, researchers aim to develop better diagnostic tools, effective treatment modalities, and targeted therapies for patients with Langerhans cell histiocytosis. They also explore potential connections between this rare disease and other genetic conditions, infections, and immune disorders.

For patients and their families, ClinicalTrials.gov provides a reliable source of information regarding ongoing research studies, clinical trials, and patient support resources. It serves as a platform where patients can learn about the latest advancements in the field, connect with advocacy groups, and participate in research studies to contribute to the advancement of knowledge about this rare condition.

Resources:

Catalog of Genes and Diseases from OMIM

The Langerhans cell histiocytosis is a rare disorder that affects the blood-forming cells in the bone marrow. It is also known as histiocytosis X. This disease affects certain cells called Langerhans cells, which are part of the body’s immune system.

OMIM, the Online Mendelian Inheritance in Man, provides a comprehensive catalog of genes and diseases. It offers information on the genetic basis of human diseases and related genes. This catalog is a valuable resource for researchers, clinicians, and advocacy groups.

OMIM lists various diseases and disorders associated with the Langerhans cell histiocytosis. These diseases have been identified through scientific research and clinical studies. They range from common to rare, with different frequencies of occurrence.

For more information about these diseases, OMIM provides links to additional resources, including scientific articles, clinical trials, and patient support groups. These resources offer support, information, and advocacy for individuals with Langerhans cell histiocytosis and other related diseases.

OMIM also provides genetic testing information for diseases associated with Langerhans cell histiocytosis. Genetic testing can help identify the specific genes and mutations that may be causing the disease. This information can be useful for patient management, counseling, and research purposes.

OMIM references scientific articles and PubMed publications to provide up-to-date and reliable information. This ensures that the catalog of genes and diseases is based on the latest research and findings in the field of Langerhans cell histiocytosis.

Examples of Diseases Associated with Langerhans Cell Histiocytosis
Names Inheritance Clinical Frequency
Langerhans cell histiocytosis Somatic Rare
Langerhans cell histiocytosis with liver involvement Somatic Rare
Langerhans cell histiocytosis with infections Somatic Rare
Langerhans cell histiocytosis with bone involvement Somatic Rare
Langerhans cell histiocytosis associated with other rare diseases Somatic Rare

The catalog of OMIM provides a comprehensive resource for learning about the genetic basis and clinical manifestations of Langerhans cell histiocytosis and related diseases. It is a valuable tool for researchers, clinicians, and patients seeking information and support.

Scientific Articles on PubMed

Inheritance and Genetic Testing in Langerhans Cell Histiocytosis: A Review

This article discusses the inheritance patterns and genetic testing for Langerhans cell histiocytosis. It explores the blood-forming cells and the research conducted on this condition. The studies identified additional genetic factors and their association with certain diseases. The article also provides advocacy resources to learn more about this rare condition.

Genetic Studies in Langerhans Cell Histiocytosis: Identifying New Genes

This scientific article presents the results of genetic studies conducted on Langerhans cell histiocytosis. It explores the identification of new genes and their role in this condition. The article discusses the frequency of certain genes and their association with other diseases. References to relevant articles and resources on this topic are provided.

Langerhans Cell Histiocytosis: Clinical Manifestations and Treatment Options

This article focuses on the clinical manifestations and treatment options for Langerhans cell histiocytosis. It provides information about the rare nature of this condition and the affects it has on bone, liver, and other organs. The article names the various clinical trials and support centers available for patients with Langerhans cell histiocytosis.

Hematologic Manifestations of Langerhans Cell Histiocytosis

This scientific article delves into the hematologic manifestations of Langerhans cell histiocytosis. It discusses the involvement of blood-forming cells and the rare infections associated with this condition. The article provides information on somatic mutations and their impact on Langerhans cell histiocytosis.

Catalog of Disorders: Langerhans Cell Histiocytosis

This article serves as a catalog of disorders related to Langerhans cell histiocytosis. It provides information on the clinical names and various diseases associated with this condition. The article also includes references to other resources, such as OMIM and PubMed, for further research.

References