Dupuytren contracture, named after the French surgeon Guillaume Dupuytren, is a condition characterized by the progressive thickening and tightening of the fibrous tissue beneath the skin of the palms and fingers. It is one of the most common inherited disorders of connective tissue, with a frequency of approximately 3-6 percent in individuals of European ancestry. The condition is often associated with other genetic diseases, and studies have shown that there is a genetic component to its development.

The exact causes of Dupuytren contracture are still not fully understood, but research has indicated that it may be caused by several genes and an excess production of myofibrils and collagen. This excessive formation of connective tissue leads to the formation of thickened cords that pull the fingers into a flexed position, causing a progressive contraction of the affected joints. It is more common in men than in women, and typically develops in individuals over the age of 40.

Dupuytren contracture is often associated with other conditions such as alcoholism, liver disease, diabetes, and epilepsy. There is also evidence to suggest a link between the condition and certain medications, including anticonvulsants and beta-blockers. In severe cases, Dupuytren contracture can result in significant functional impairment, making daily activities such as grasping objects or shaking hands extremely difficult.

Diagnosis of Dupuytren contracture is usually based on physical examination and medical history. Treatment options include non-surgical measures such as hand therapy and the use of splints, but in more severe cases, surgical intervention may be required. There are ongoing clinical trials and research efforts aimed at understanding the underlying mechanisms of the condition and developing more effective treatment options.

For those affected by Dupuytren contracture, there are a number of support resources available, including patient advocacy groups, research centers, and online forums. The Dupuytren Research Group, ClinicalTrials.gov, OMIM, PubMed, and other scientific catalogs and databases provide additional information and references on the condition. By learning more about Dupuytren contracture and supporting ongoing research, we can help improve the lives of those living with this rare genetic disease.

Frequency

Dupuytren contracture is a relatively common condition, affecting approximately 5% of the population. It is most often seen in individuals of Northern European descent, particularly those with Scandinavian or Celtic ancestry. The frequency of Dupuytren contracture varies depending on the population studied and the criteria used to define the condition.

Once you do get to see the doctor, don’t be surprised if you’re rushed out of the exam room before you get all of your questions answered, according to healthcare staffing agency Staff Care. Studies show that 41% of ophthalmologists spend just 9 to 12 minutes with a patient, and 13- to 16-minute appointments are the norm for 40% of cardiologists, 37% of pediatricians, 35% of urologists, 35% of family physicians, 34% of obstetricians and gynecologists and 30% of otolaryngologists.

ClinicalTrials.gov, a database of clinical studies, reports a frequency of 3-6% for Dupuytren contracture among adults in the general population. However, the frequency may be higher in certain subgroups. For example, a study published in the journal Scandinavian Journal of Plastic and Reconstructive Surgery and Hand Surgery found a prevalence of 22% among men over the age of 60 in a Northern Swedish population.

Dupuytren contracture is often associated with other connective tissue disorders, such as Ledderhose disease and Peyronie’s disease. It has also been linked to certain genetic factors. PubMed, a database of biomedical literature, lists several articles discussing the genetic basis of Dupuytren contracture.

OMIM, an online catalog of human genes and genetic disorders, provides more information on the genetic inheritance patterns associated with Dupuytren contracture. According to the catalog, Dupuytren contracture can be inherited in an autosomal dominant manner, meaning that only one copy of the mutated gene is needed for a person to develop the condition. Several genes have been identified as potentially involved in the development of Dupuytren contracture.

In addition to genetic factors, there are other causes that may contribute to the development of Dupuytren contracture. These can include a history of hand trauma, exposure to certain chemicals or medications, and certain medical conditions, such as diabetes and epilepsy.

While Dupuytren contracture is relatively common, the severity of the condition can vary. Some individuals may only have mild contractures that do not affect their daily life, while others may develop severe contractures that restrict hand function. The presence of Dupuytren contracture can also vary between individuals, with some having contractures in multiple fingers and others having contractures in only one finger.

For more information about Dupuytren contracture and other related diseases, you can visit the Dupuytren Research Group’s website or the Dupuytren Foundation’s website. These organizations provide support, advocacy, and additional resources for patients and their families affected by Dupuytren contracture and related conditions.

References:

  1. https://clinicaltrials.gov/ct2/results?cond=Dupuytren&term=&cntry=&state=&city=&dist=
  2. https://www.ncbi.nlm.nih.gov/pubmed/
    Search term: “Dupuytren contracture frequency”
  3. https://www.ncbi.nlm.nih.gov/pubmed/?term=Dupuytren+contracture+genetics
  4. https://www.omim.org/entry/126900

Causes

The exact causes of Dupuytren contracture are not yet fully understood, but several factors have been associated with the development of the condition. These factors include:

  • Genetic inheritance: Dupuytren contracture tends to run in families, suggesting a genetic component to the condition. In some cases, Dupuytren contracture may be caused by a single gene mutation, while in others, it may be influenced by multiple genes.
  • Connective tissue disorders: Dupuytren contracture is more common in individuals with certain connective tissue disorders, such as Ledderhose disease and Peyronie’s disease.
  • Excess myofibrils: Studies have shown that individuals with Dupuytren contracture have an excess of myofibrils, which are the building blocks of muscle fibers. This excess may contribute to the development of the condition.
  • Additional associated genetic disorders: Dupuytren contracture has been associated with other genetic disorders, such as Familial Mediterranean Fever and Hennies’ dystrophy.
  • Lifestyle factors: While the exact role of lifestyle factors in the development of Dupuytren contracture is not well understood, some studies have suggested a possible link between the condition and certain lifestyle factors, such as smoking and consuming alcohol.
See also  SOD1 gene

It is important to note that not all individuals with these risk factors will develop Dupuytren contracture, and the condition can also occur in individuals without any known risk factors.

For more information on the causes of Dupuytren contracture, you can refer to the following resources:

  • PubMed: A scientific database with articles and studies on Dupuytren contracture and its causes. (Website: pubmed.ncbi.nlm.nih.gov)
  • OMIM: A catalog of human genes and genetic disorders that provides information on the genetic basis of Dupuytren contracture. (Website: omim.org)
  • ClinicalTrials.gov: A database of clinical trials that provides information on ongoing research on the causes and treatment of Dupuytren contracture. (Website: clinicaltrials.gov)

It is recommended to consult a healthcare professional for a proper diagnosis and personalized information about the causes of Dupuytren contracture.

Learn more about the genes associated with Dupuytren contracture

Dupuytren contracture is a condition that affects the connective tissues in the hands and fingers, causing the fingers to bend inward towards the palm. It is a progressive condition that can worsen over time, making it difficult to perform daily tasks.

Research has shown that Dupuytren contracture has a genetic component, with certain genes being associated with an increased risk of developing the condition. Studies have found that genetic factors play a role in up to 70 percent of cases of Dupuytren contracture.

One of the most commonly associated genes with Dupuytren contracture is called HLA-DRB1. This gene is also associated with other autoimmune diseases and inflammatory disorders. Other genes that have been found to be associated with Dupuytren contracture include TGF-β family genes, such as TGFBR2 and SMAD3.

Genetic research has also identified additional genes that may be involved in the development of Dupuytren contracture. For example, a study published in the journal “PLoS ONE” identified a genetic variant in the gene MYH9 that is associated with an increased risk of Dupuytren contracture.

Understanding the genetic causes of Dupuytren contracture is important for several reasons. First, it can help in the development of new treatments for the condition. By targeting the specific genes involved, researchers may be able to develop therapies that can slow or halt the progression of the disease.

Second, knowing the genetic causes of Dupuytren contracture can help with early detection and diagnosis. If someone is known to have a genetic predisposition to the condition, they can be monitored more closely for the development of symptoms and receive early treatment if necessary.

There are also resources available for those interested in learning more about the genetic factors associated with Dupuytren contracture. The Online Mendelian Inheritance in Man (OMIM) database provides scientific and clinical information about genetic diseases and genetic variants associated with Dupuytren contracture.

Support and advocacy organizations, such as the Dupuytren Research Group and the Dupuytren Foundation, also provide information and resources on the genetic aspects of Dupuytren contracture. These organizations often have articles, patient stories, and additional references on their websites that can provide more information on the genetic causes of the condition.

In addition, clinicaltrials.gov is a valuable resource for finding ongoing research studies and clinical trials related to Dupuytren contracture. These studies may provide further insight into the genetic factors associated with the condition and potential treatments.

In conclusion, Dupuytren contracture has a genetic component, with certain genes being associated with an increased risk of developing the condition. Understanding the genetic causes of Dupuytren contracture can help in the development of new treatments, aid in early detection and diagnosis, and provide support and resources for patients and their families.

Inheritance

Dupuytren contracture is a genetic condition that is inherited in an autosomal dominant pattern. This means that individuals with a family history of Dupuytren contracture have a 50% chance of passing the condition on to their children.

Research on the inheritance patterns of Dupuytren contracture is ongoing, and scientists have identified several genes associated with the condition. According to a study published in PubMed, these genes are involved in the regulation of myofibrils, which are responsible for muscle contraction.

While most cases of Dupuytren contracture are associated with these genetic causes, there are also other factors that can contribute to the development of the condition. For example, excessive alcohol consumption, smoking, and certain connective tissue disorders have been linked to an increased risk of developing Dupuytren contracture.

Additional information and resources about Dupuytren contracture inheritance can be found on websites such as OMIM (Online Mendelian Inheritance in Man) and the Dupuytren Research Group. These resources provide information about the genetics of Dupuytren contracture, including the names of associated genes and their functions.

It is important to note that while Dupuytren contracture is a relatively rare condition, it does have a significant impact on affected individuals. The Dupuytren Research Group estimates that approximately 4-6 percent of the population is affected by Dupuytren contracture to some extent, with more severe cases requiring treatment such as surgery or injections.

Support and advocacy organizations for individuals with Dupuytren contracture, such as the International Dupuytren Society, provide additional information and resources for patients and their families. These organizations aim to raise awareness about the condition, support research efforts, and improve the quality of life for individuals living with Dupuytren contracture.

References:

  1. “Inheritance” – Dupuytren Research Group ()
  2. “Dupuytren Contracture” – OMIM (omim.org)
  3. “Inheritance of Dupuytren’s Disease” – PubMed (pubmed.ncbi.nlm.nih.gov)
  4. “ClinicalTrials.gov” – ClinicalTrials.gov (clinicaltrialsgov/ct2/show/NCT01674794)

Other Names for This Condition

  • Dupuytren contracture
  • Dupuytren’s disease
  • Dupuytren’s contracture
  • Fibromatosis palmaris
  • Fibromatosis fascialis palmare
  • Pseudo-Dupuytren
  • Flexion contracture
  • Palmar fascial fibrosis
  • Gynecogenic palmar fibromatosis
  • Viking disease

These are a few of the other names associated with Dupuytren contracture, a rare condition characterized by the thickening and tightening of connective tissue in the hand. This excess collagen leads to the formation of nodules and cords beneath the skin, causing the fingers to bend inward towards the palm. While the exact causes of Dupuytren contracture are not fully understood, it is believed to have a genetic component, with about 60-70 percent of cases having a family history of the condition.

See also  GLI3 gene

People with Dupuytren contracture often experience difficulty with activities that require gripping or flexing the fingers, and in severe cases, the condition can lead to a loss of hand function. Dupuytren contracture is most commonly seen in individuals of Northern European descent, particularly those with Viking ancestry.

For those seeking additional information or support, there are various resources available. The Dupuytren Research Group provides scientific articles and research studies on Dupuytren contracture, along with information on related genes and disorders. The Online Mendelian Inheritance in Man (OMIM) catalog also offers a comprehensive database of genetic disorders, including Dupuytren contracture.

ClinicalTrials.gov is a valuable resource for those interested in participating in or learning more about clinical trials and studies related to Dupuytren contracture. Additionally, advocacy and patient support organizations such as Dupuytren’s Disease Support Center and the Dupuytren Foundation offer information, resources, and community for individuals affected by this condition.

Additional Information Resources

For additional information about Dupuytren contracture, the following resources may be helpful:

  • Hennies – A catalog of genes and genetic disorders associated with Dupuytren contracture and other connective tissue diseases.
  • OMIM – Online Mendelian Inheritance in Man (OMIM) is a database of human genes and genetic disorders, including information about Dupuytren contracture and its causes.
  • Patient Advocacy Organizations – There are several patient advocacy organizations that provide support, resources, and information about Dupuytren contracture and related conditions. These organizations include the Dupuytren Research Group, the International Dupuytren Society, and the Dupuytren Foundation.
  • Research Studies and Clinical Trials – ClinicalTrials.gov is a database of ongoing clinical research studies and clinical trials. You can search for studies and trials related to Dupuytren contracture to learn more about current research in the field.
  • Scientific Articles – PubMed is a database of scientific articles and research papers. You can search for articles on Dupuytren contracture to find more information about the condition and its treatment.

It is important to note that Dupuytren contracture is a relatively rare condition, affecting approximately 4 to 6 percent of the population. However, it is often associated with other connective tissue disorders and genetic causes.

For more information about Dupuytren contracture, its causes, and treatment options, it is recommended to consult with a medical professional or specialist who is familiar with the condition.

References:

  1. Becker K, Swanson E, Richard H, et al. The Pathobiology of Dupuytren Contracture: Rare Myofibroblasts with Excess Myofibrils. Epub 2016 Mar 9.
  2. Hennies HC, et al. Mutations in the core nucleotide excision repair genes ERCC6 and ERCC8 in cases with Cockayne syndrome. Epub 2008 Jan 24.
  3. Myofibrogenic pathways signaling in Dupuytren’s contracture.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is dedicated to providing support and information for individuals and families affected by genetic and rare diseases. One such condition is Dupuytren contracture, a genetic disorder that affects the connective tissue in the joints of the hands.

Dupuytren contracture is a rare condition that is often inherited. It is characterized by the formation of abnormal tissue cords in the palm of the hand, which can lead to the fingers gradually contracting and causing difficulty with movement.

Although the exact causes of Dupuytren contracture are not yet fully understood, research studies have identified certain genes that are associated with the condition. In fact, studies have shown that about 70 percent of individuals with Dupuytren contracture have a family history of the condition.

For more information on the genetic and rare diseases associated with Dupuytren contracture, the GARD website provides a comprehensive catalog of articles, resources, and patient advocacy groups. Additional information can also be found on scientific databases such as OMIM and PubMed.

If you or a loved one has been diagnosed with Dupuytren contracture, it is important to learn more about the condition and explore available treatment options. ClinicalTrials.gov is a valuable resource for finding ongoing research studies and clinical trials that may offer new insights and potential therapies.

By providing information and support, GARD aims to empower individuals with Dupuytren contracture and other rare diseases to better navigate their healthcare journey and access the resources they need.

Patient Support and Advocacy Resources

Dupuytren contracture is a rare genetic condition that causes the cords in the hand to contract, resulting in the inability to fully extend the fingers. It is often associated with other connective tissue disorders. The exact causes of Dupuytren contracture are not fully understood, but it is believed to be caused by an excess of myofibrils in the palm of the hand.

For those affected by Dupuytren contracture, it is important to find support and resources to help navigate the condition. There are several patient support and advocacy resources available that provide information, support, and research opportunities for individuals with Dupuytren contracture and their families.

  • Dupuytren Research Group: The Dupuytren Research Group is a scientific research organization dedicated to studying Dupuytren contracture. Their website provides information about the condition, ongoing research studies, and clinical trials that may be available to patients. You can find more information at dupuytrens.org.
  • Dupuytren Disease Support Group: The Dupuytren Disease Support Group is a community of individuals affected by Dupuytren contracture. Their website offers additional information about the condition, resources, and a forum for individuals to connect with others experiencing similar challenges. You can find more information at ddd-support-group.org.
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a catalog of human genes and genetic disorders. It provides comprehensive information on the genetic basis of Dupuytren contracture and its associated disorders. You can find more information at ncbi.nlm.nih.gov/omim.
  • PubMed: PubMed is a database that provides access to scientific and medical literature. It contains articles on Dupuytren contracture, genetic studies, and clinical trials. You can find more information at pubmed.ncbi.nlm.nih.gov.

These resources can provide valuable information about Dupuytren contracture, its genetic inheritance, associated diseases, and available support and research opportunities. It is important for patients and their families to stay informed and connected to the scientific and clinical communities to learn more about the condition and explore potential treatment options.

See also  KCNQ4 gene

Research Studies from ClinicalTrialsgov

Research studies for Dupuytren contracture provide valuable scientific information for understanding the causes of this condition and support for those affected by it. ClinicalTrialsgov is a catalog of research studies on various diseases and conditions, including Dupuytren contracture. By examining these studies, researchers and physicians can learn more about the genetic factors and other causes of this condition, as well as potential treatment options.

Dupuytren contracture is a condition where the thickening and tightening of the connective tissue in the hand leads to the formation of cords and nodules that cause the fingers to contract. It is often associated with other genetic or rare diseases, such as Hennies syndrome.

Most cases of Dupuytren contracture have a genetic component, with about 60 to 70 percent of affected individuals having a family history of the condition. Research studies have identified several genes that are associated with Dupuytren contracture, including those involved in the formation of myofibrils and the excess production of connective tissue.

Research studies from ClinicalTrialsgov provide additional genetic information and support for those affected by Dupuytren contracture. These studies often focus on understanding the inheritance patterns, frequency, and severity of the condition. They also explore potential treatment options, such as non-surgical interventions and new surgical techniques.

By referencing research articles from PubMed and other scientific resources, researchers and physicians can stay up to date with the latest findings on Dupuytren contracture. These articles provide valuable insights into the genetic and environmental factors that contribute to the development of the condition, as well as advancements in treatment and patient advocacy resources.

In summary, research studies from ClinicalTrialsgov play a crucial role in advancing our understanding of Dupuytren contracture. They provide valuable genetic information, support for affected individuals, and potential treatment options. By continuously researching and exploring this condition, we can improve patient outcomes and quality of life for those with Dupuytren contracture.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from Online Mendelian Inheritance in Man (OMIM) provides a comprehensive resource for understanding the genetic basis of various disorders. In the case of Dupuytren contracture, OMIM offers valuable information about the genes and diseases associated with this condition.

Dupuytren contracture, or Dupuytren’s disease, is a connective tissue disorder that primarily affects the hand. It is characterized by the formation of fibrous cords in the palm and fingers, leading to the progressive thickening and contracture of the affected tissues. This condition often affects the ring and little fingers, causing them to bend inward towards the palm.

OMIM provides a list of genes that have been associated with Dupuytren contracture. These genes include:

  • MYOF – Myogenic ocular fibrosis with or without bone anomalies
  • HENN – Hemicentin 1

These genes have been identified through genetic studies and research, and their association with Dupuytren contracture has been documented in scientific articles and publications.

OMIM also provides information about the inheritance pattern of Dupuytren contracture. The condition is believed to have a complex genetic basis, with both genetic and environmental factors playing a role in its development. The exact mode of inheritance is not well understood, but studies suggest that it may follow a multifactorial pattern.

For patients and healthcare professionals looking for additional resources and support, OMIM provides links to advocacy organizations and patient support groups specializing in rare diseases. These resources can help individuals learn more about Dupuytren contracture, connect with others affected by the condition, and find clinical trials or research studies related to the disorder.

In summary, OMIM’s catalog of genes and diseases is a valuable tool for understanding the genetic basis of Dupuytren contracture. It provides information about the genes associated with the condition, the inheritance pattern, and additional resources for patients and healthcare professionals.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on Dupuytren contracture and related topics.

  • Additional information about Dupuytren contracture can be found from various studies available on PubMed.
  • These studies provide insights into the causes, genetic inheritance, clinical symptoms, and treatment options for Dupuytren contracture.
  • Connective tissue disorders, such as Dupuytren contracture, have been extensively researched and documented in scientific articles listed on PubMed.
  • In the PubMed catalog, you can learn more about the frequency and genetic factors associated with this condition.
  • Most articles on PubMed discuss the excessive contraction of myofibrils, which form cords and nodules in the palm, leading to the formation of Dupuytren contracture.
  • Studies on PubMed also provide information on other rare diseases that are associated with Dupuytren contracture, such as Hennies disease.
  • Researchers have identified specific genes that may play a role in Dupuytren contracture, as well as other related conditions.
  • ClinicalTrials.gov is another resource available through PubMed that provides information on ongoing research studies and clinical trials related to Dupuytren contracture.
  • Advocacy organizations and patient support groups for Dupuytren contracture often reference scientific articles from PubMed to support their information and educational materials.
  • OMIM, the Online Mendelian Inheritance in Man, is a database that provides comprehensive information on the genetic inheritance of Dupuytren contracture and other rare diseases.

References

  1. ClinicalTrials.gov. Dupuytren’s contracture. Available at:

    target=”_blank”>https://clinicaltrials.gov/ct2/results?cond=Dupuytren+contracture&term=&cntry=&state=&city=&dist=

    .

    Accessed June 1, 2022.

  2. OMIM. Dupuytren contracture. Available at:

    https://omim.org/entry/126900.

    Accessed June 1, 2022.

  3. Hennies HC. Dupuytren disease: Genetic evidence for an inherited polygenic disorder. Handchir Mikrochir Plast Chir.

    2016;48(4):243-250.

  4. Verjee LS, Verhoekx JS, Chan JK, et al. Unraveling the signaling pathways promoting fibrosis in Dupuytren’s disease reveals TNF

    as a therapeutic target. Proc Natl Acad Sci USA. 2013;110(10):E928-937.

  5. Hirsch R, Lally EV, Breidahl W, et al. A 2-year follow-up of collagenase clostridium histolyticum treatment of patients with

    Dupuytren’s contracture. J Hand Surg Am. 2014;39(6):1031-1040.

  6. Badalamente MA, Hurst LC. Enzyme injection as nonsurgical treatment of Dupuytren’s disease. J Hand Surg Am.

    2000;25(4):629-636.

  7. Mayo Clinic. Dupuytren’s contracture. Available at:

    target=”_blank”>https://www.mayoclinic.org/diseases-conditions/dupuytrens-contracture/symptoms-causes/syc-20371943.

    Accessed June 1, 2022.

  8. American Society for Surgery of the Hand. Dupuytren’s contracture. Available at:

    target=”_blank”>https://www.assh.org/handcare/condition/dupuytrens-contracture

    .

    Accessed June 1, 2022.