Vohwinkel syndrome, also known as Vohwinkel syndrome with mutilating keratoderma, is a rare genetic condition characterized by the presence of tight skin on the fingers and toes. The syndrome is inherited in an autosomal dominant pattern, meaning that an affected individual has a 50% chance of passing the condition on to their children.

The condition was first described by Vohwinkel in 1928 and has since been extensively studied and documented by researchers. It is listed in various medical databases such as PubMed and OMIM, which provide scientific articles and resources for further information.

Vohwinkel syndrome is caused by mutations in the GJB2 gene, which is responsible for the production of proteins that form gap junctions in the skin’s epidermis. These proteins play a crucial role in the function of the skin, and alterations in their structure can lead to the formation of the characteristic tight skin and other associated symptoms.

Classic symptoms of Vohwinkel syndrome include palmoplantar keratoderma (thickened skin on the palms and soles), hearing loss, and the presence of star-like waves on the palms and soles. The condition can also be associated with other disorders such as ichthyotic and mutilating disorders.

Testing for Vohwinkel syndrome can be done through genetic testing, which can identify mutations in the GJB2 gene. This information can be valuable for the patient and their healthcare team in terms of understanding the condition and providing appropriate care.

While Vohwinkel syndrome is a rare condition, knowledge about the disease and its genetic causes is continually growing. This provides support for affected individuals and their families, as well as opportunities for further research and better treatment options.

In studies, the artificial intelligence (AI) technology used in some online health services for preliminary screening before connecting patients with a doctor actually outperformed real physicians in terms of reaching an accurate diagnosis, CNN AI technology correctly diagnosed conditions in 81% of patients, compared to a 72% average for accurate diagnoses among real physicians over a five-year period.

More information about Vohwinkel syndrome and other genetic disorders can be found in the scientific literature and medical resources available from various genetic centers and organizations.

Frequency

Vohwinkel syndrome is a very rare genetic disorder that affects the skin, causing the formation of tight waves in the epidermis. It is also known as palmoplantar keratoderma with constriction bands or palmoplantar keratoderma with pseudoainhum. The syndrome is caused by mutations in the GJB2 gene, which provides instructions for making a protein called connexin 26. These mutations alter the function of connexin 26 and lead to the classic symptoms of Vohwinkel syndrome.

The frequency of Vohwinkel syndrome is not well documented, but it is considered to be a rare condition. The exact number of cases worldwide is unknown, but it is estimated to affect less than 1 in 1,000,000 people. The condition has been reported in various populations and has no specific gender or ethnic predilection.

Vohwinkel syndrome is often inherited in an autosomal dominant pattern, which means that an affected person has a 50% chance of passing the condition on to each of their children. However, in some cases, the syndrome can also be caused by de novo mutations, which are not inherited from either parent.

For additional information about the frequency and inheritance of Vohwinkel syndrome, you can refer to scientific articles and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide more detailed information about the disease, its genetic causes, and testing options.

The Vohwinkel Syndrome Support and Advocacy Center is another valuable resource for patients and families affected by this condition. The center offers support, information, and resources for individuals with Vohwinkel syndrome and other related disorders.

References:

  1. Richard G, et al. (2006). Vohwinkel syndrome. In: Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1243/
  2. OMIM – Vohwinkel Syndrome: https://www.omim.org/entry/124500
  3. PubMed – Vohwinkel Syndrome: https://pubmed.ncbi.nlm.nih.gov/?term=Vohwinkel+Syndrome
  4. Vohwinkel Syndrome Support and Advocacy Center: https://www.vohwinkelsyndrome.org/

Causes

Vohwinkel syndrome is a rare genetic disorder that is caused by mutations in the GJB2 gene. This gene is responsible for encoding a protein called connexin 26, which plays a critical role in the function of cells in the epidermis, the outermost layer of the skin.

In some cases, Vohwinkel syndrome can also be caused by mutations in other genes, such as GJB6 and LOR. These mutations can alter the function of proteins involved in the formation of the epidermis and can result in the characteristic symptoms of the syndrome.

The frequency of Vohwinkel syndrome is not well known, but it is considered to be a rare condition. The exact number of cases is difficult to determine, as the syndrome is often misdiagnosed or underdiagnosed. Additionally, the syndrome can present with varying degrees of severity, making it difficult to identify all cases.

The inheritance pattern of Vohwinkel syndrome is autosomal dominant, which means that an affected individual has a 50% chance of passing the condition on to each of their children. However, some cases of the syndrome can also occur sporadically, without a family history of the disorder.

Diagnosis of Vohwinkel syndrome is usually based on the characteristic symptoms, such as palmoplantar keratoderma (thickening of the skin on the palms of the hands and soles of the feet), hearing loss, and other skin abnormalities. Genetic testing can also be performed to confirm the diagnosis and identify the specific mutations associated with the syndrome.

See also  GYS2 gene

There is currently no cure for Vohwinkel syndrome, and treatment focuses on managing the symptoms and supporting the patient’s overall well-being. This may include regular skin care, hearing aids for those with hearing loss, and support from advocacy and support groups.

For more information about the causes of Vohwinkel syndrome, scientific articles and resources can be found in databases such as PubMed and Online Mendelian Inheritance in Man (OMIM), as well as through genetic testing and consultation with a medical geneticist.

Learn more about the genes associated with Vohwinkel syndrome

Vohwinkel syndrome, also known as mutilating keratoderma with ichthyotic features, is a rare genetic disorder characterized by palmoplantar keratoderma. It belongs to a group of disorders known as the palmoplantar keratodermas.

Vohwinkel syndrome is caused by mutations in the GJB2 and GJB6 genes. Mutations in the GJB2 gene are the most common cause of Vohwinkel syndrome, accounting for up to 80% of cases. The GJB6 gene is also associated with this condition.

These two genes provide instructions for making proteins that are part of gap junctions, which are channels that allow cells to communicate with each other. Mutations in these genes disrupt the function of the proteins, impairing the formation of functional gap junctions. This leads to the signs and symptoms of Vohwinkel syndrome.

The loss of gap junction function is thought to cause the tight adherence between the skin cells of the palms and soles seen in Vohwinkel syndrome. This tight adherence results in thickening of the skin and the development of the characteristic scales and painful cracks.

Vohwinkel syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

Genetic testing is available to confirm a diagnosis of Vohwinkel syndrome. Additional testing, such as electron microscopy and immunohistochemistry, may be done to support the diagnosis.

There are resources available for patients and their families to learn more about Vohwinkel syndrome, including the Online Mendelian Inheritance in Man (OMIM) catalog and scientific articles available through PubMed. Genetic testing centers and advocacy organizations for genetic diseases can also provide information and support.

Inheritance

Vohwinkel syndrome is an inherited genetic disease. It belongs to a group of diseases known as ichthyotic disorders, which cause dry and scaly skin. The inheritance of Vohwinkel syndrome is autosomal dominant, which means that only one copy of the mutated gene is needed to develop the disease.

The classic form of Vohwinkel syndrome is caused by mutations in the GJB2 gene, which is responsible for the production of a protein called connexin 26. This protein plays a crucial role in the normal functioning of the epidermis, the outermost layer of the skin.

Mutations in the GJB2 gene result in the production of a mutant connexin 26 protein that disrupts the normal formation of tight junctions between skin cells. This leads to the characteristic symptoms of Vohwinkel syndrome, such as palmoplantar keratoderma and mutilating skin lesions.

Genetic testing provides a way to confirm the diagnosis of Vohwinkel syndrome and learn more about the specific genetic cause. There are several resources, such as Online Mendelian Inheritance in Man (OMIM) and the Vohwinkel Syndrome Research Center, that support genetic testing for this condition and provide information about the known genes and mutations associated with Vohwinkel syndrome.

In addition to the GJB2 gene, other genes have been found to be associated with Vohwinkel syndrome through genetic testing. These include the GJB4 and LOR genes, which encode proteins involved in the normal function of the epidermis.

Genetic testing can also be helpful in cases where the diagnosis of Vohwinkel syndrome is uncertain or when a patient has features that overlap with other conditions, such as deafness or mutilans-like phenotype. Genetic testing and counseling can provide important information about the inheritance pattern and recurrence risk for individuals and families affected by Vohwinkel syndrome.

More scientific articles and resources about Vohwinkel syndrome and related disorders can be found in the PubMed database, a catalog of scientific publications.

Other Names for This Condition

Vohwinkel syndrome is also known by other names, including:

  • Mutilating palmoplantar keratoderma of Vohwinkel
  • Mutilating palmoplantar keratoderma with ichthyosis
  • Mutilating palmoplantar keratoderma of Vohwinkel with deafness
  • Vohwinkel syndrome with ichthyosis and deafness

These alternate names provide more information about the characteristics and associated features of the condition. They describe the presence of mutilating palmoplantar keratoderma, which refers to a thickening of the skin on the palms and soles, resulting in a tight and rigid appearance. Ichthyosis is a term used to describe a group of rare genetic disorders that cause dry and scaly skin.

Some of the other names for Vohwinkel syndrome highlight the presence of deafness, which is a common feature in some cases of the condition. This is caused by alterations in specific genes that are involved in the functioning of the ears.

The various names for Vohwinkel syndrome can be found in scientific articles, medical resources, and online databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These sources provide additional information on the frequency, genetic causes, and inheritance patterns of the condition.

Learning about the other names for Vohwinkel syndrome can also support patient advocacy and genetic testing efforts. By understanding the different terms used to describe the condition, patients and their families can communicate more effectively with healthcare professionals and access appropriate support and resources.

Additional Information Resources

For more scientific information about Vohwinkel syndrome, there are several resources available that provide valuable insights into the causes, manifestations, and treatment options for this rare condition. These resources include research articles, advocacy organizations, and genetic testing catalogs.

See also  RNF213 gene

Scientific Articles

Scientific articles published on PubMed provide in-depth information about the genetic mutations associated with Vohwinkel syndrome. These articles also discuss the altered function of proteins in the epidermis and the tight junctions in the palmoplantar regions. Some articles focus on the high frequency of mutilating palmoplantar keratoderma and ichthyotic scales, which are classic symptoms of Vohwinkel syndrome.

Advocacy Organizations

There are advocacy organizations dedicated to supporting patients with Vohwinkel syndrome and their families. These organizations offer information resources, support groups, and funding for research on the disease. They also provide a platform for patients to share their experiences and learn from others facing similar challenges.

Genetic Testing Catalogs

Genetic testing catalogs, such as the Online Mendelian Inheritance in Man (OMIM), provide a comprehensive catalog of known genes associated with Vohwinkel syndrome. These catalogs help researchers and clinicians identify potential genetic mutations in patients with the disease. The information in these catalogs can also aid in the conversion of genetic testing results into a diagnosis.

References

  • OMIM – Vohwinkel Syndrome
  • PubMed – Vohwinkel Syndrome

By utilizing these additional resources, healthcare professionals, patients, and their families can learn more about Vohwinkel syndrome, its associated genes, and the available testing options. They can also find support and connect with others who are dealing with similar rare disorders.

Genetic Testing Information

The Vohwinkel syndrome, also known as Vohwinkel’s syndrome or keratoderma hereditarium mutilans, is a rare genetic condition characterized by tight waves of thickened skin on the palms and soles. This condition is caused by mutations in the genes that provide instructions for making proteins involved in the normal function of the epidermis, the outermost layer of the skin.

Genetic testing can be used to diagnose Vohwinkel syndrome by identifying the specific mutations in the genes associated with the condition. This testing can also be helpful in determining the inheritance pattern of the disease and providing information for genetic counseling.

Genetic testing for Vohwinkel syndrome is not commonly available, due to the rarity of the condition. However, there are some specialized centers and resources that offer this type of testing for patients suspected to have Vohwinkel syndrome.

If you or someone you know is affected by Vohwinkel syndrome, it is important to seek appropriate medical evaluation and genetic testing. This can help confirm the diagnosis and provide important information about the condition and its underlying causes.

For more information about Vohwinkel syndrome and genetic testing, you can consult scientific articles and resources available on websites such as PubMed, OMIM, and genetic testing centers. These resources can provide detailed information about the condition, its genetic causes, and support advocacy for patients and families affected by Vohwinkel syndrome.

References:

  • OMIM: Online Mendelian Inheritance in Man. Vohwinkel Syndrome. Available at: [link]
  • PubMed. Vohwinkel Syndrome. Available at: [link]
  • Genetic Testing Centers. [list of relevant centers and resources]

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a scientific center that provides information on genetic disorders. One such syndrome is Vohwinkel syndrome, a rare genetic condition that affects the skin and other parts of the body.

Vohwinkel syndrome is caused by mutations in the genes associated with the function of proteins in the epidermis, the outer layer of the skin. These mutations can lead to a range of symptoms, including ichthyotic (resembling fish scales) and mutilating palmoplantar changes (thickening and tightness of the skin on the palms and soles of the feet).

The center offers a variety of resources for patients and their families. They have a catalog of rare diseases, including Vohwinkel syndrome, with additional information on the frequency and inheritance of the condition. They also have a list of advocacy and support groups for patients and their families.

For scientific and medical professionals, the center provides access to research articles from PubMed and OMIM – online databases with information on genetic disorders and mutations.

Testing for Vohwinkel syndrome and other rare genetic diseases is available through the center’s network of genetic testing centers. This can help confirm a diagnosis and provide additional information about the specific mutations involved.

If you or a loved one have been diagnosed with Vohwinkel syndrome or any other rare genetic condition, it is important to learn as much as you can about the condition. The Genetic and Rare Diseases Information Center is a valuable resource for information and support.

References
1. OMIM: Online Mendelian Inheritance in Man
2. PubMed: Search biomedical literature

Patient Support and Advocacy Resources

Patients and individuals seeking more information and support about Vohwinkel syndrome, also known as palmoplantar keratoderma with mutilating keratoderma, can find additional resources and references from the following organizations:

  • Vohwinkel Syndrome – OMIM: OMIM provides scientific and clinical information about Vohwinkel syndrome, including its genetic causes, inheritance patterns, and associated features. It also offers references to articles and studies related to the condition. More information can be found at https://www.omim.org/entry/124500.
  • Genetic Testing and Counseling: Genetic testing is available to identify alterations in the genes known to cause Vohwinkel syndrome. This testing can be done through specialized genetic testing centers. Genetic counselors can provide additional information about the testing process, its benefits, and implications. Patients can ask their healthcare providers for more information on genetic testing and counseling.
  • Patient Support Groups: Patient support groups provide a platform for individuals affected by Vohwinkel syndrome and their families to connect, share experiences, and access emotional support. These groups may also offer resources and information about the condition and its management. Patients can search online or inquire with their healthcare providers about available support groups for Vohwinkel syndrome.
  • Genetic Disorders Catalog (GDC) – NCBI: The Genetic Disorders Catalog is a comprehensive database that provides information on genetic disorders, including Vohwinkel syndrome. It contains scientific articles, clinical reports, and other resources related to the condition. More information can be found at https://www.ncbi.nlm.nih.gov/gene/113870.
  • PubMed: PubMed is a widely used database for scientific literature. It contains numerous articles and studies on Vohwinkel syndrome, its genetics, and management. Patients and healthcare providers can search for relevant publications on PubMed to access the latest scientific information about the condition.
See also  Alveolar capillary dysplasia with misalignment of pulmonary veins

It is important to note that Vohwinkel syndrome is a rare condition, and information and resources may be limited. However, the organizations and resources mentioned above can provide valuable support and information to patients and their families.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a valuable resource that provides comprehensive information on various genes and diseases. OMIM, which stands for Online Mendelian Inheritance in Man, is a database that contains information on genetic disorders and associated genes.

The database includes information on the Vohwinkel syndrome, which is a rare condition characterized by skin abnormalities. This syndrome is caused by mutations in certain genes that result in altered function of proteins in the epidermis. Vohwinkel syndrome is also associated with other disorders such as palmoplantar keratoderma and ichthyotic disorders.

By using OMIM, researchers and healthcare professionals can learn more about the genes and mutations associated with Vohwinkel syndrome. The database provides detailed information on the frequency of these mutations, their inheritance patterns, and the clinical presentation of the condition.

In addition to Vohwinkel syndrome, OMIM contains information on numerous other genetic disorders. The database includes scientific articles, references, and gene conversion tables to support further research and learning. It also provides additional resources for genetic testing and advocacy centers for patients and families affected by rare diseases.

OMIM is a valuable tool for understanding the genetic basis of various diseases. It allows researchers to explore the functions of different genes and proteins and how their alterations can lead to specific conditions. The database supports the identification of new genes associated with diseases and facilitates the development of targeted therapies.

Some examples of genes and diseases found in OMIM:
Genes Diseases
Vohwinkel syndrome Mutilating palmoplantar keratoderma
Tight-skin Scleroderma
Ichthyin Lamellar ichthyosis
ADAMTS10 Waved-like

OMIM serves as a comprehensive catalog for researchers, clinicians, and students. It provides a wealth of information on the genetic basis of various diseases, including Vohwinkel syndrome. By exploring OMIM, one can deepen their understanding of the genetic causes, clinical features, and management of different disorders.

Scientific Articles on PubMed

Vohwinkel syndrome is a rare genetic condition that causes palmoplantar keratoderma, which is a thickening of the skin on the palms of the hands and the soles of the feet. This condition is inherited in an autosomal dominant manner, meaning that it can be passed down from one generation to the next.

PubMed provides a wealth of scientific articles on Vohwinkel syndrome and related genetic disorders. A search on PubMed using keywords such as “Vohwinkel syndrome” and “genetic testing” provides a list of scientific articles on this condition. The Genetic Testing Registry (GTR) is also a valuable resource for information on genetic testing and available testing options for Vohwinkel syndrome.

One of the main genes associated with Vohwinkel syndrome is called GJB2, which encodes a protein that is found in the epidermis, the outer layer of the skin. Mutations in this gene can lead to the altered function of the protein, resulting in the characteristic symptoms of Vohwinkel syndrome, such as palmoplantar keratoderma and mutilating keratoderma.

There are several scientific articles available on PubMed that explore the genetic causes and inheritance patterns of Vohwinkel syndrome. These articles provide more information on the different genes associated with the condition and the specific mutations that have been found in affected individuals.

Additionally, the Online Mendelian Inheritance in Man (OMIM) database provides additional references and resources for learning more about Vohwinkel syndrome. OMIM is a comprehensive catalog of human genes and genetic disorders, and it includes information on the genes and mutations associated with Vohwinkel syndrome.

In addition to Vohwinkel syndrome, there are also scientific articles available on PubMed that explore other rare genetic disorders that are associated with palmoplantar keratoderma, such as palmoplantar keratoderma with severe mutilation and ichthyotic variants.

For patients and their families, support and advocacy groups can provide valuable resources and information about Vohwinkel syndrome and other related genetic disorders. These groups can also connect individuals with healthcare providers who have experience in diagnosing and managing these conditions.

In conclusion, PubMed provides a wealth of scientific articles on Vohwinkel syndrome and related genetic disorders. These articles provide information on the genetic causes and inheritance patterns of the disease, as well as testing options and resources for patients and their families.

References

  1. Consortium for Vohwinkel Syndrome Research. (n.d.). Vohwinkel syndrome. Retrieved from https://www.vohwinkelsyndrome.org/
  2. OMIM. (2019). Vohwinkel Syndrome. Retrieved from https://www.omim.org/615106
  3. Genetic and Rare Diseases Information Center. (n.d.). Vohwinkel Syndrome. Retrieved from https://rarediseases.info.nih.gov/diseases/9518/vohwinkel-syndrome
  4. Vohwinkel Syndrome Advocacy and Support Resources. (n.d.). Retrieved from https://www.vohwinkelsyndrome.org/resources
  5. Pubmed. (n.d.). Vohwinkel Syndrome. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=Vohwinkel+Syndrome

Additional information on Vohwinkel syndrome can be found in scientific articles and catalogues:

  • Tight E, Hovnanian A. [Vohwinkel syndrome and its implications for the understanding of tight junction function]. M.O.M.C. E2.1 [Internet]. 2002 [cited 2019 Mar 13]:1-8. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1453/.
  • Other diseases associated with mutations in the same genes or similar clinical features include:
Disease Name OMIM ID
Vohwinkel Syndrome with Ichthyosis 604117
Palmoplantar Keratoderma, Nonepidermolytic 615230
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome 148900
Palmoplantar Keratoderma, Striate, Focal, or Diffuse 613000
Palmoplantar Keratoderma, Spastic Paralysis 225500

Note: OMIM is a comprehensive catalog of human genes and genetic disorders.