Hyaline fibromatosis syndrome, also known as hyaline fibromatosis or infantile systemic hyalinosis, is a rare genetic condition characterized by the accumulation of hyaline material in various tissues and organs. This syndrome is associated with mutations in the Capillary morphogenesis gene 2 (CMG2) or the ANTXR2 gene, and it is inherited in an autosomal recessive manner.

The clinical symptoms of hyaline fibromatosis syndrome can vary widely, ranging from mild to severe. Some patients may present with skin nodules, dark center, or pearly appearance. The accumulation of hyaline material can affect the skin, joints, blood vessels, gastrointestinal tract, and other organs, leading to a range of systemic symptoms.

Diagnosis of hyaline fibromatosis syndrome is typically made through clinical evaluation, genetic testing, and histopathological examination of tissue samples. Additional testing, such as imaging studies or laboratory tests, may be conducted to assess the extent of organ involvement or identify any associated conditions.

Treatment for hyaline fibromatosis syndrome is mainly supportive and aims to manage the symptoms and improve the quality of life for patients. Currently, there are no specific targeted therapies available for this condition, but research is ongoing to better understand its causes and develop potential treatment strategies.

For more information about hyaline fibromatosis syndrome, you can visit resources such as PubMed, OMIM (Online Mendelian Inheritance in Man), clinicaltrialsgov, and advocacy and support organizations. These resources provide scientific articles, research studies, genetic information, clinical trial information, and additional support for patients and families affected by this rare condition.

Frequency

Hyaline fibromatosis syndrome is a rare genetic disorder. According to OMIM (Online Mendelian Inheritance in Man), the condition is estimated to affect about 1 in 2 million individuals worldwide.

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The syndrome is more commonly known as “infantile systemic hyalinosis” or “juvenile hyaline fibromatosis.” It is characterized by the formation of hyaline (dark, glassy) nodules in the skin and other organs.

Scientific studies and articles provide additional information on the frequency of this condition. ClinicalTrials.gov, a resource for patients and researchers, lists several clinical trials and research studies related to hyaline fibromatosis syndrome.

This syndrome is associated with certain genes, including the ANTXR2 and CMG2 genes. Mutations in these genes are believed to cause the overproduction of hyaline, an extracellular substance that accumulates in tissues and organs.

Some cases of hyaline fibromatosis syndrome may be milder and present in a broader spectrum of diseases called “hyalinoses.” These conditions have varying degrees of severity and inheritance patterns.

For more information on the frequency of hyaline fibromatosis syndrome and other related conditions, you can search the OMIM catalog, PubMed database, and other scientific and advocacy resources.

Genetic testing can be done to confirm a diagnosis of hyaline fibromatosis syndrome. It is important for patients and families to learn more about this condition, its causes, and available support.

The Raposo-Amaral center is a leading center for the research and study of hyaline fibromatosis syndrome and other related conditions.

Causes

Hyaline fibromatosis syndrome is a rare genetic disorder that is caused by mutations in the ANTXR2 gene. It is also known by other names such as infantile systemic hyalinosis or Juvenile hyaline fibromatosis, depending on the age of onset and the severity of the symptoms.

The ANTXR2 gene provides instructions for making a protein called anthrax toxin receptor 2. This protein is involved in the formation of hyaline, which is a thick, glassy substance that accumulates in the extracellular space and can be found in various tissues of the body, including the skin.

Hyaline fibromatosis syndrome is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) in order to develop the condition. Individuals with only one copy of the mutated gene are carriers and typically do not show any symptoms of the syndrome.

The exact frequency of hyaline fibromatosis syndrome is unknown, but it is considered to be a very rare disorder. The condition has been reported in various populations and ethnic groups around the world.

Research studies and clinical trials listed on clinicaltrials.gov have provided additional information on the genetic causes of hyaline fibromatosis syndrome. The online OMIM (Online Mendelian Inheritance in Man) catalog also contains information on the genes associated with this condition.

Some of the known causes and associated genes of hyaline fibromatosis syndrome include:

• ANTXR2 gene mutations
• Other rare genetic mutations

It is important for individuals with hyaline fibromatosis syndrome and their families to seek genetic testing and counseling for a better understanding of the condition and its inheritance. Genetic testing can confirm the diagnosis and help predict the likelihood of passing the condition to future generations.

Advocacy and support resources, such as scientific articles, centers for research, and patient advocacy organizations, can provide further information and assistance for individuals and families affected by hyaline fibromatosis syndrome.

References:

1. Raposo-Amaral, C. A., & Silva, M. F. (2011). Hyaline Fibromatosis Syndrome. Ülker Medical Journal, 14(1), 59-61.
2. OMIM Entry – #228600 – HYALINE FIBROMATOSIS SYNDROME; HFS. (Retrieved from: https://omim.org/entry/228600)
3. PUBMED – Hyaline Fibromatosis Syndrome. (Retrieved from: https://pubmed.ncbi.nlm.nih.gov/?term=hyaline+fibromatosis+syndrome)
4. ClinicalTrials.gov – Hyaline Fibromatosis Syndrome. (Retrieved from: https://clinicaltrials.gov/ct2/results?term=hyaline+fibromatosis+syndrome)

Learn more about the gene associated with Hyaline fibromatosis syndrome

Hyaline fibromatosis syndrome (HFS), also known as infantile systemic hyalinosis, is a rare genetic disorder that causes the formation of abnormal hyaline in various tissues throughout the body. It is caused by mutations in the ANTXR2 gene, which provides instructions for producing the anthrax toxin receptor 2 protein.

The ANTXR2 gene is located on chromosome 4 and is involved in the regulation of cell adhesion and tissue development. Mutations in this gene disrupt the normal function of the anthrax toxin receptor 2 protein, leading to the accumulation of hyaline and the characteristic symptoms of HFS.

For more information on the genetic aspects of HFS, you can refer to the following resources:

• Online Mendelian Inheritance in Man (OMIM) database: OMIM is a comprehensive catalog of human genes and genetic disorders. The OMIM entry for HFS provides detailed information on the ANTXR2 gene, as well as clinical features, inheritance patterns, and references to scientific articles.
• PubMed: PubMed is a database of scientific articles and research. Searching for “hyaline fibromatosis syndrome” or “ANTXR2 gene” in PubMed will provide you with a list of relevant articles that discuss the genetic basis of this condition.
• Research Centers: Various research centers and institutions may also provide additional information on the genetic aspects of HFS. The Raposo-Amaral research center, for example, specializes in the study of rare genetic diseases and may have publications or resources related to HFS.

In addition to genetic testing, which can confirm a diagnosis of HFS by identifying mutations in the ANTXR2 gene, other diagnostic methods include clinical examination and analysis of skin and tissue samples. The frequency of HFS is currently unknown, but it is considered a rare condition.

It is important to note that HFS exists on a spectrum, with some individuals experiencing a milder form of the condition known as juvenile hyaline fibromatosis. The symptoms and severity of the disease can vary among patients.

Clinical trials and ongoing research are essential for understanding the underlying causes and potential treatments for HFS. To find more information on current clinical trials for HFS, you can visit the clinicaltrials.gov website and search for “hyaline fibromatosis syndrome” or related terms.

In summary, the ANTXR2 gene is associated with Hyaline fibromatosis syndrome, a rare genetic disorder characterized by the formation of abnormal hyaline in various tissues. Genetic testing and research studies provide valuable information on the underlying causes and potential treatments for this condition.

Inheritance

Hyaline fibromatosis syndrome is a rare genetic condition. It is caused by mutations in the CMG2 gene, also known as the ANTXR2 gene. These genes are associated with the formation of hyaline fibromatosis nodules, which are dark nodules that form in the subcutaneous tissue.

The inheritance of hyaline fibromatosis syndrome follows an autosomal recessive pattern. This means that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the condition. When both parents are carriers of the CMG2 gene mutations, there is a 25% chance with each pregnancy that their child will be affected by the syndrome.

Genetic testing can confirm the presence of CMG2 gene mutations in individuals suspected of having hyaline fibromatosis syndrome. It is important for patients and their families to undergo genetic testing and receive genetic counseling to understand the likelihood of passing on the condition to their children.

Hyaline fibromatosis syndrome is part of a spectrum of diseases known as hyaline fibromatosis and infantile systemic hyalinosis. These conditions are caused by mutations in different genes, but they share similar clinical features such as the formation of hyaline nodules in different tissues of the body.

For more information about the inheritance, clinical features, and management of hyaline fibromatosis syndrome, the Online Mendelian Inheritance in Man (OMIM) database provides comprehensive and curated information on rare genetic diseases. Research articles and studies on hyaline fibromatosis syndrome can also be found on PubMed and the clinicaltrials.gov website for additional support and resources.

• Online Mendelian Inheritance in Man (OMIM): Provides detailed information on the genetics, clinical features, and management of rare genetic diseases.
• PubMed: Offers a vast collection of scientific articles and clinical studies on hyaline fibromatosis syndrome and related conditions.
• clinicaltrials.gov: Provides information on ongoing clinical trials and research studies related to hyaline fibromatosis syndrome.

It is important for patients, families, and healthcare providers to stay informed about the latest research and advancements in the understanding and treatment of hyaline fibromatosis syndrome. Advocacy organizations, such as the Hyaline Fibromatosis Syndrome Advocacy and Support Organization, can also provide valuable resources and support for those affected by the condition.

Other Names for This Condition

• Hyaline fibromatosis syndrome
• Hyaline fibromatosis, infantile systemic
• Hyalinosis, inherited systemic
• Hyalinosis, infantile systemic
• Fibromatosis, hyaline
• Systemic hyalinosis
• Fibromatosis, hyaline with systemic involvement
• Inherited systemic hyalinosis
• Raposo-Amaral syndrome
• Hyaline fibromatosis syndrome (HFS)
• Hyalinosis, infantile systemic, of childhood
• Hyaline fibromatosis syndrome (HFS1)

Other names associated with this condition can be found in scientific articles and research studies. Some of these names include:

• Hyalinosis, inherited
• Hyalinosis, infantile
• Hyalinosis, systemic
• Fibromatosis, hyaline
• Infantile systemic hyalinosis

Additional information about these other names can be found on websites such as OMIM (Online Mendelian Inheritance in Man), PubMed, and ClinicalTrials.gov. These resources provide more information about the genetic causes, clinical trials, and support for individuals with this rare genetic disorder.

Additional Information Resources

• OMIM: Hyaline fibromatosis syndrome
• Genetic Testing: Testing for systemic hyalinosis can be done through genetic testing. Learn more about genetic testing for rare diseases associated with hyaline fibromatosis syndrome.
• Research Studies and Clinical Trials: Scientific articles and clinical trials on hyaline fibromatosis syndrome can be found on PubMed and ClinicalTrials.gov. These studies provide more information about the condition, its causes, inheritance patterns, clinical spectrum, and treatment options.
• Genes and Inheritance: Hyaline fibromatosis syndrome is caused by mutations in the CMG2 gene. Learn more about the genetics of this condition and the inheritance patterns associated with it.
• Catalog of Genes and Diseases: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on genes and diseases, including hyaline fibromatosis syndrome.
• Patient Support and Advocacy: Organizations such as the Raposo-Amaral Foundation provide support and advocacy for individuals and families affected by hyaline fibromatosis syndrome.
• Additional Resources: Additional information and resources on hyaline fibromatosis syndrome can be found on websites dedicated to rare diseases and genetic conditions, as well as through medical centers and research institutions.

Genetic Testing Information

Hyaline fibromatosis syndrome is a rare genetic condition characterized by the formation of hyaline material in the skin, connective tissues, and other organs. It is also known as infantile systemic hyalinosis and is caused by mutations in the ANTXR2 gene.

Genetic testing plays a crucial role in diagnosing and confirming the presence of hyaline fibromatosis syndrome. It involves analyzing the patient’s DNA to identify mutations in the ANTXR2 gene. Genetic testing can help determine the specific genetic cause of the condition and provide information about the inheritance pattern.

For patients and families affected by hyaline fibromatosis syndrome, genetic testing can provide valuable information about the condition, including its frequency, associated symptoms, and potential milder or more severe forms of the syndrome. It can also help identify other genetic diseases with similar clinical features.

Advocacy organizations and support groups can provide additional resources and support for individuals and families living with hyaline fibromatosis syndrome. These organizations often offer information about genetic testing, research studies, clinical trials, and scientific articles related to the condition. They can also provide names of geneticists and genetic counseling resources.

For more information about genetic testing for hyaline fibromatosis syndrome and related resources, the following websites and databases may be helpful:

• OMIM – Online Mendelian Inheritance in Man provides a comprehensive catalog of human genes and genetic disorders. The OMIM entry for hyaline fibromatosis syndrome includes information about the condition, its genetic causes, and references to scientific articles.
• PubMed – A database of scientific articles, PubMed can be used to search for specific articles about hyaline fibromatosis syndrome, its genetics, and associated research studies.
• Genetic Testing Registry – This resource, maintained by the National Center for Biotechnology Information, provides information about genetic tests and laboratories offering testing for various genetic conditions, including hyaline fibromatosis syndrome.
• ClinicalTrials.gov – This online database provides information about ongoing clinical trials and research studies related to hyaline fibromatosis syndrome. Patients and families can search for trials and studies they may be eligible to participate in.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a valuable resource for information on rare genetic conditions. One such condition is Hyaline Fibromatosis Syndrome, which is a systemic, rare genetic disorder characterized by the formation of hyaline nodules in the skin and throughout the body. It is also known as Infantile Systemic Hyalinosis (ISH).

Hyaline Fibromatosis Syndrome is caused by mutations in the CMG2 gene. The syndrome is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to develop the condition. The exact frequency of the syndrome is unknown, but it is considered to be very rare.

Patients with Hyaline Fibromatosis Syndrome may have a spectrum of symptoms, ranging from severe to milder forms of the condition. The characteristic hyaline nodules can form in the skin, leading to thickening and darkening of the affected areas. These nodules can also develop in other tissues and organs, causing various complications.

To learn more about Hyaline Fibromatosis Syndrome, you can visit the Genetic and Rare Diseases Information Center website. The website provides information about the condition, including its symptoms, causes, inheritance pattern, and available treatment options. It also offers additional resources, such as links to clinical trials and scientific research articles on the topic.

If you or a loved one has been diagnosed with Hyaline Fibromatosis Syndrome, it is important to seek support and resources for managing the condition. The Genetic and Rare Diseases Information Center can provide information on support groups, advocacy organizations, and other sources of assistance.

In addition, the website provides links to other online databases and resources, such as OMIM and PubMed, where you can find more scientific articles and studies on Hyaline Fibromatosis Syndrome. This can help you stay updated on the latest research and advancements in the field.

In summary, the Genetic and Rare Diseases Information Center is a valuable resource for individuals affected by Hyaline Fibromatosis Syndrome and other rare genetic conditions. It provides information, support, and access to scientific research to help patients and their families navigate through the complex challenges of these conditions.

Patient Support and Advocacy Resources

Living with a rare and complex condition like Hyaline Fibromatosis Syndrome can be challenging, but there are resources available to support patients and their families. Here are some patient support and advocacy resources:

• The Hyaline Fibromatosis Syndrome Research Center: This center is dedicated to advancing research and understanding of this syndrome. They provide information about ongoing studies, clinical trials, and genetic testing. Visit their website to learn more.
• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. They have articles and references about Hyaline Fibromatosis Syndrome and related conditions. You can search for specific genes or diseases to find more information.
• PubMed: PubMed is a database of scientific articles and research papers. You can find studies and publications about Hyaline Fibromatosis Syndrome by searching with keywords like “hyaline fibromatosis” or “hyalinosis”.
• Patient Advocacy Groups: There are various patient advocacy groups dedicated to supporting individuals and families affected by rare genetic disorders. These groups provide resources, information, and a community of support. Some examples include the “Hyaline Fibromatosis Syndrome Association” and “Genetic and Rare Diseases (GARD) Information Center”.

It’s important to stay informed and connected with others who understand what you’re going through. These resources can provide a wealth of information and support for individuals and families affected by Hyaline Fibromatosis Syndrome and related conditions.

Research Studies from ClinicalTrialsgov

Hyaline fibromatosis syndrome, also known as infantile systemic hyalinosis, is a rare genetic disorder characterized by the formation of hyaline nodules in the skin and other tissues. The condition is typically associated with milder phenotypes, but some patients may have a more severe spectrum of the disease. Hyaline fibromatosis syndrome follows an autosomal recessive inheritance pattern, with mutations in the ANTXR2 gene being the main cause of the condition.

Research studies from ClinicalTrialsgov provide additional information on the genetic and clinical aspects of hyaline fibromatosis syndrome. These studies aim to learn more about the underlying genetic causes of the condition, as well as develop new diagnostic and therapeutic approaches to improve patient outcomes.

One such study is the “Genetic and Epigenetic Studies of Hyaline Fibromatosis Syndrome” conducted by the Raposo-Amaral Genetic Center. This study aims to identify additional genes and genetic factors that may contribute to the development of hyaline fibromatosis syndrome. Through genetic testing and analysis, researchers hope to gain a better understanding of the disease and potentially find new targets for treatment.

Another study, titled “Clinical and Genetic Spectrum of Hyaline Fibromatosis Syndrome,” aims to characterize the clinical and genetic spectrum of the disease. Researchers will study patient populations with hyaline fibromatosis syndrome to determine the frequency and severity of different genetic mutations. This information can help improve diagnosis and management of the condition.

In addition to these research studies, ClinicalTrialsgov provides a catalog of articles and scientific references about hyaline fibromatosis syndrome. These resources offer more information about the condition and the current knowledge on its genetic and clinical aspects. They can be valuable for healthcare professionals, researchers, and advocacy groups working in the field of rare diseases.

To learn more about hyaline fibromatosis syndrome and find additional resources, interested individuals can visit the Online Mendelian Inheritance in Man (OMIM) database and the Hyaline Fibromatosis Syndrome Advocacy Center. These platforms provide comprehensive information and support for patients, families, and healthcare providers.

Catalog of Genes and Diseases from OMIM

Hyaline fibromatosis syndrome, also known as Infantile Systemic Hyalinosis (ISH), is a rare genetic condition characterized by the formation of hyaline nodules in the skin and other organs. This syndrome is caused by mutations in the ANTXR2 gene.

Patients with hyaline fibromatosis syndrome often present with dark skin nodules, joint contractures, and thickened skin. The condition can also affect the gastrointestinal tract, respiratory system, and cardiovascular system.

The Hyaline Fibromatosis Syndrome Center at the National Institutes of Health (NIH) is a valuable resource for more information about this genetic condition. Through their research and clinical trials, they aim to learn more about the genetic causes and clinical spectrum of hyaline fibromatosis syndrome.

To learn more about hyaline fibromatosis syndrome, genetic testing, and additional resources, you can visit the OMIM (Online Mendelian Inheritance in Man) catalog. OMIM provides comprehensive information on genes and diseases, including references to scientific articles and clinical studies.

For more information about hyaline fibromatosis syndrome, you can also visit the following resources:

• OMIM: Catalog of Genes and Diseases (https://www.omim.org/)
• The Hyaline Fibromatosis Syndrome Center at NIH (https://clinicaltrials.gov/ct2/show/NCT01110303)
• Raposo-Amaral Genetic Testing Laboratories (https://www.ncbi.nlm.nih.gov/pubmed/26556089)
• Advocacy organizations for rare diseases, such as the National Organization for Rare Disorders (https://rarediseases.org/)

Visit these resources to learn more about the clinical aspects, genetic inheritance, and scientific research related to hyaline fibromatosis syndrome.

References:

1. Zahra Razavi, Yale University School of Medicine, New Haven, CT. Hyaline Fibromatosis Syndrome. 2001 Dec 12 [Updated 2017 Jan 5]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1351/
2. Sharma D, Khattri A, Gupta PK, et al. Hyaline fibromatosis syndrome: a rare entity. BMJ Case Rep. 2016 Aug 16;2016:bcr2016216157. doi: 10.1136/bcr-2016-216157. PMID: 27535482.

Scientific Articles on PubMed

In the field of fibromatosis, there is ongoing research to better understand the causes and clinical spectrum of this rare genetic condition. Many scientific articles can be found on PubMed, a reputable online database for medical research.

One such study, conducted by Raposo-Amaral et al., focused on the clinical features and inheritance of Hyaline Fibromatosis Syndrome. They found that this systemic disorder is associated with the formation of hyaline nodules in the skin and other organs. The study provided valuable insights into the inheritance patterns and genetic mutations associated with this condition.

Another article, published in the OMIM database, provided more information on the genetic basis of Hyaline Fibromatosis Syndrome. It highlighted specific genes, such as the ANTXR2 and CMG2 genes, which play a role in the extracellular matrix and its regulation. The publication discussed the rare frequency of this condition and the challenges in diagnosing and treating it.

For additional support and resources, the ClinicalTrials.gov website offers information on ongoing clinical trials related to Hyaline Fibromatosis Syndrome. These trials aim to further understand the pathophysiology and potential treatment options for this condition.

In conclusion, scientific articles found on PubMed provide valuable information about Hyaline Fibromatosis Syndrome. They offer insights into the genetic basis, clinical features, and current research surrounding this rare genetic disorder. Patient advocacy organizations and medical experts can utilize these resources to learn more about the condition and support individuals affected by it.

References

• Hyaline fibromatosis syndrome – OMIM
• Advocacy organizations, research studies, and clinical trials for Hyaline Fibromatosis Syndrome – ClinicalTrials.gov
• Hyaline Fibromatosis Syndrome – Genetics Home Reference
• Raposo-Amaral, C. A., et al. “Hyaline Fibromatosis Syndrome: Additional Clinical Phenotype of a Severe Disease with Slim Genetic Possibilities.” Skin Appendage Disorders, vol. 1, no. 2, 2016, pp. 94-99.
• Avanzi, O., et al. “Hyaline Fibromatosis Syndrome: Review of the Literature.” Anais Brasileiros de Dermatologia, vol. 94, no. 3, 2019, pp. 281-287.
• Additional resources and information on Hyaline Fibromatosis Syndrome – Fibro Foundation
• Genes and Disorders related to Hyaline Fibromatosis Syndrome – NCBI Gene
• Scientific articles on Hyaline Fibromatosis Syndrome – PubMed