Pachyonychia congenita is a rare genetic condition that affects the nails, hair, and skin. It is caused by alterations in certain genes, with six known genes associated with the condition. These genes are classified as PACH1, PACH2, PACH3, PACH4, PACH5, and PACH6. The frequency of pachyonychia congenita varies depending on the specific gene involved, with PACH1 being the most common.

Pachyonychia congenita is characterized by thickened nails (pachyonychia) that may be discolored or brittle. Other symptoms include painful cysts and calluses that form on the soles of the feet and palms of the hands. Hair abnormalities, such as thinning or loss of hair, can also occur. The severity of pachyonychia congenita can vary widely, even among individuals within the same family.

Pachyonychia congenita is inherited in an autosomal dominant pattern, which means that individuals with one altered gene have a 50% chance of passing the condition on to their children. In some cases, however, the condition may develop spontaneously due to new gene alterations.

There is currently no cure for pachyonychia congenita, but treatment is focused on managing the symptoms and providing support to patients. Pain management is an important aspect of treatment, as the cysts and calluses can cause significant discomfort. Genetic testing can be helpful in confirming the diagnosis and identifying the specific gene alteration responsible for the condition.

More information about pachyonychia congenita can be found in scientific articles and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide a catalog of research articles and references on pachyonychia congenita and other genetic diseases. Patient advocacy groups, such as the Pachyonychia Congenita Project and the Pachyonychia Congenita Research Fund, also provide support, resources, and information on this rare condition.

Frequency

Pachyonychia congenita is a rare genetic condition that affects the nails, feet, and hair. Its frequency is estimated to be approximately 1 in 30,000 to 1 in 100,000 births. The condition was first described in scientific literature by Smith in 1904, and since then, it has been classified into two types: pachyonychia congenita type 1 (PC-1) and pachyonychia congenita type 2 (PC-2).

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PC-1 is associated with mutations in the KRT6A and KRT16 genes, while PC-2 is associated with mutations in the KRT6B and KRT17 genes. These genes code for proteins that form keratin filaments, which are important for the structure and function of the nails, feet, and hair.

The frequency of PC-1 is higher than PC-2, with most cases being classified as PC-1. PC-1 is characterized by thickened nails (pachyonychia), painful calluses (plantar keratoderma), and the formation of cysts in various parts of the body. PC-2 is characterized by thickened nails and painful cysts in the groin area.

To learn more about the frequency and clinical features of pachyonychia congenita, patients and healthcare professionals can refer to resources such as the Online Mendelian Inheritance in Man (OMIM) catalog, which contains information about the genes and inheritance patterns associated with the condition. Additionally, the PC Project, a patient advocacy and support center, provides additional information and resources for individuals affected by pachyonychia congenita.

Research studies and case reports published in PubMed also provide valuable information about the clinical features, genetic causes, and management of pachyonychia congenita. Genetic testing can also be done to confirm the diagnosis.

In rare cases, pachyonychia congenita may be associated with other genetic diseases, and these cases are classified as “pachyonychia congenita associated with” these specific diseases. The frequency of these associated cases is much lower compared to the overall frequency of pachyonychia congenita.

More research studies and clinical trials are ongoing to better understand the causes, frequency, and treatment options for pachyonychia congenita. These studies aim to develop treatments that can alleviate the pain and reduce the complications associated with this rare genetic condition.

Causes

Pachyonychia congenita is a rare genetic condition that can cause thickened nails and cysts on the feet or hands. It is classified as a genetic disorder, meaning it is caused by changes (mutations) in certain genes.

There are several types of pachyonychia congenita, each associated with its own specific genetic cause:

• Pachyonychia congenita type 1 (PC1), also known as Jadassohn-Lewandowsky syndrome, is caused by mutations in the KRT16 gene.
• Pachyonychia congenita type 2 (PC2), also known as Jackson-Lawler syndrome, is caused by mutations in the KRT17 gene.
• Pachyonychia congenita type 3 (PC3), also known as Jadassohn-Lewandowsky syndrome without leukokeratosis, is caused by mutations in the KRT6A gene.
• Pachyonychia congenita type 4 (PC4), also known as steatocystoma multiplex type 2, is caused by mutations in the KRT6B gene.

The inheritance of pachyonychia congenita can vary depending on the type. PC1 and PC3 are usually inherited in an autosomal dominant manner, meaning one copy of the altered gene is enough to develop the condition. PC2 and PC4 can be inherited in either an autosomal dominant or autosomal recessive manner, depending on the specific gene mutation.

To learn more about the causes of pachyonychia congenita, genetic testing can be done to identify the specific gene mutation in an affected individual. This information can help with diagnosis, prognosis, and treatment planning.

For more information about the genes associated with pachyonychia congenita, you can visit the Online Mendelian Inheritance in Man (OMIM) website and search for the specific gene names. References to scientific articles and studies can be found within the OMIM catalog. Additional articles can also be found in the PubMed database.

It is worth noting that pachyonychia congenita is a very rare condition, and not much research has been conducted on its causes. However, there are advocacy groups and genetic resources available to provide support and information to patients and their families.

Pain from the thickened nails, cysts, and other associated symptoms of pachyonychia congenita can be managed through various treatments and therapies. Clinical trials and research studies are ongoing to learn more about the condition and develop better treatment options.

For more information and support, you can contact the Pachyonychia Congenita Project, a patient advocacy and support center for those affected by these genetic diseases.

Learn more about the genes associated with Pachyonychia congenita

Pachyonychia congenita (PC) is a rare genetic condition that primarily affects the nails, skin, hair, and sweat glands. It is classified within a group of disorders called the pachyonychia congenita genetic subtypes. This condition is caused by alterations in specific genes.

There are five known genes associated with Pachyonychia congenita:

1. PC1 gene (also known as Keratin 6a gene, or KRT6A): Alterations in this gene are responsible for Pachyonychia congenita type 1.
2. PC2 gene (also known as Keratin 16 gene, or KRT16): Alterations in this gene are responsible for Pachyonychia congenita type 2.
3. PC3 gene (also known as Keratin 17 gene, or KRT17): Alterations in this gene are responsible for Pachyonychia congenita type 3.
4. PC4 gene (also known as Keratin 6b gene, or KRT6B): Alterations in this gene are responsible for Pachyonychia congenita type 4.
5. PC5 gene (also known as Keratin 6c gene, or KRT6C): Alterations in this gene are responsible for Pachyonychia congenita type 5.

These genes play a crucial role in the development and maintenance of the skin, nails, and hair. Altered versions of these genes can lead to the characteristic symptoms of Pachyonychia congenita, such as thickening of the nails, painful cysts, and other skin abnormalities.

For more information on the genes associated with Pachyonychia congenita, you can refer to the following resources:

• The Pachyonychia Congenita Project: A center for patient support, advocacy, research, and additional information.
• PubMed: Scientific articles and studies on Pachyonychia congenita and its associated genes.
• OMIM: A catalog of human genes and genetic disorders, including Pachyonychia congenita.
• ClinicalTrials.gov: Information on ongoing clinical trials for Pachyonychia congenita.

By learning more about the genes associated with Pachyonychia congenita, researchers and clinicians can continue to improve the understanding, diagnosis, and treatment of this rare genetic condition.

Inheritance

Pachyonychia congenita is a rare genetic condition characterized by thickened nails (pachyonychia) and various other symptoms. The condition is classified with other rare genetic diseases that cause alterations in the genes associated with keratin production, a protein that forms the structural framework for the skin, hair, and nails.

The inheritance of pachyonychia congenita is autosomal dominant, which means that a person with the condition has a 50% chance of passing it on to each of their children. It is caused by mutations in one of five genes: KRT6A, KRT6B, KRT6C, KRT16, or KRT17. These genes provide instructions for making different types of keratins, and mutations in these genes can lead to the development of pachyonychia congenita.

There are two main types of pachyonychia congenita: type 1 and type 2. Type 1 is associated with mutations in the KRT16 gene, while type 2 is associated with mutations in the KRT6A gene. These two types have different clinical features and patterns of inheritance.

The frequency of pachyonychia congenita within the population is unknown, but it is considered to be very rare. The exact prevalence is difficult to determine due to misdiagnosis and underdiagnosis. The prevalence of different types of pachyonychia congenita varies among different populations.

For more information about the inheritance and genetics of pachyonychia congenita, you can visit the OMIM (Online Mendelian Inheritance in Man) database, which provides comprehensive information about genetic conditions. Additionally, the Pachyonychia Congenita Project provides resources, support, and advocacy for patients and their families. Scientific articles and studies can also be found on PubMed and ClinicalTrials.gov for further research and reference.

Other Names for This Condition

Pachyonychia congenita is a rare genetic condition that is also known by other names, including:

• Jadassohn-Lewandowsky syndrome
• PC
• PYEK
• Canavan-Payne syndrome
• Neuhauser syndrome
• Steinert disease

These alternative names may be used in scientific research articles, genetic studies, and clinical trials to refer to the same condition.

Pachyonychia congenita causes abnormalities in the development of nails, skin, hair, and feet. It is classified into several subtypes based on the genes that are altered in each case.

Studies and research on pachyonychia congenita are ongoing, with new information and findings continuously being reported. Scientific literature, genetic databases, and rare disease catalogs are important sources of information and references for this condition.

Genes associated with pachyonychia congenita include KRT6A, KRT6B, KRT6C, KRT16, and KRT17. Inheritance of the condition can be autosomal dominant or autosomal recessive, depending on the gene involved.

Patients with pachyonychia congenita often experience pain and discomfort, particularly due to thickened nails and cysts that develop within them. Hair abnormalities and altered sweating are also common features.

More information about pachyonychia congenita, including clinical trials and support groups, can be found on websites such as ClinicalTrials.gov, OMIM (Online Mendelian Inheritance in Man), PubMed, and the Pachyonychia Congenita Project, a patient advocacy organization.

Additional Information Resources

For more information about Pachyonychia congenita, you can refer to the following resources:

• Online Mendelian Inheritance in Man (OMIM): This online catalog provides a comprehensive overview of the genetic causes, clinical features, and inheritance patterns of various diseases, including Pachyonychia congenita. You can learn more about this condition by searching for the gene names associated with Pachyonychia congenita on the OMIM website.
• PubMed: PubMed is a database of scientific articles and research papers. It contains numerous studies and case reports on Pachyonychia congenita. You can search for specific keywords, such as “Pachyonychia congenita” or “Pachyonychia congenita genes,” to find relevant articles.
• Smith Family Clinic for Genomic Medicine: The Smith Family Clinic is a research and clinical center that specializes in the diagnosis and treatment of rare genetic diseases. They have extensive experience with Pachyonychia congenita and offer genetic testing and support for patients with this condition. You can find more information about their services on their website.
• Pachyonychia Congenita Project: This advocacy organization is dedicated to raising awareness about Pachyonychia congenita and supporting affected individuals and their families. They provide resources, support groups, and educational materials about the condition. You can visit their website to learn more about Pachyonychia congenita and connect with others in the community.

These resources can provide you with additional information about Pachyonychia congenita, its genetic causes, clinical features, and available support. Consult with healthcare professionals and genetic specialists for further guidance and information tailored to your specific needs.

Genetic Testing Information

Pachyonychia congenita is a rare genetic condition characterized by thickened nails (pachyonychia) and other skin abnormalities. One of the initial steps in diagnosing the condition is genetic testing. Genetic testing involves examining a person’s DNA to identify any altered genes associated with the condition.

There are currently five known genes that can cause pachyonychia congenita. These genes are named as follows: KRT6A, KRT6B, KRT6C, KRT16, and KRT17. Mutations in these genes can lead to the development of the condition.

Genetic testing for pachyonychia congenita can be performed using various methods such as DNA sequencing or Next-Generation Sequencing (NGS). Through these tests, medical professionals can identify specific alterations in the genes associated with the condition. This information can then be used to determine a person’s likelihood of developing pachyonychia congenita or to confirm a diagnosis in individuals with symptoms.

It is important to note that pachyonychia congenita is a rare genetic disorder, and therefore genetic testing for this condition may not be readily available in all regions. However, with advances in genetic research and technology, access to testing resources is increasing.

Those interested in learning more about genetic testing for pachyonychia congenita may find the following resources helpful:

• OMIM: An online catalog of human genes and genetic disorders. It provides detailed information on the causative genes of pachyonychia congenita.
• PubMed: A database of scientific articles. Searching for “pachyonychia congenita genetic testing” can yield relevant research studies and case reports.
• ClinicalTrials.gov: A database of clinical trials. Some studies may focus on genetic testing advancements or improving treatment options for pachyonychia congenita.

Support and advocacy organizations for pachyonychia congenita can also provide information and support to patients and their families. These organizations may offer additional resources on genetic testing and the management of the condition.

In conclusion, genetic testing plays a crucial role in the diagnosis and management of pachyonychia congenita. By identifying the altered genes associated with this condition, medical professionals can provide more accurate information and care to patients. However, due to its rarity, access to genetic testing resources may vary, and further scientific research is needed to fully understand the causes and inheritance patterns of pachyonychia congenita.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a center that provides information about genetic and rare diseases. GARD collects and maintains a catalog of information about genetic diseases and provides free access to this information for the public.

Within the GARD catalog, Pachyonychia congenita is classified as a rare genetic condition. It is caused by mutations in specific genes that are associated with the development of the disease. These altered genes can cause a variety of symptoms, including thickened nails and painful cysts on the feet.

There are several resources available on GARD to learn more about Pachyonychia congenita. The GARD website provides information about the condition, including its causes, symptoms, and inheritance patterns. It also includes links to additional resources such as scientific articles, clinical trials listed on ClinicalTrials.gov, and genetic testing information.

GARD offers a variety of information about Pachyonychia congenita, including references to scientific articles on PubMed. These articles provide more in-depth information about the condition and its causes. GARD also includes information about advocacy groups and organizations that support patients with Pachyonychia congenita.

Overall, the Genetic and Rare Diseases Information Center is a valuable resource for those seeking information about Pachyonychia congenita and other rare genetic diseases. It provides comprehensive and up-to-date information to help individuals, families, and healthcare professionals better understand and manage these conditions.

Patient Support and Advocacy Resources

Pachyonychia congenita (PC) is a rare genetic disorder with various subtypes that can cause thickened nails and cysts on the feet and hands. It is caused by mutations in certain genes, including KRT6A, KRT6B, KRT6C, KRT16, and KRT17.

For patients diagnosed with pachyonychia congenita, there are several resources available for support and advocacy:

• Pachyonychia Congenita Project (PC Project): The PC Project is a non-profit organization dedicated to providing support and information to individuals and families affected by pachyonychia congenita. They offer resources such as educational articles, scientific studies, and information about clinical trials. They also provide opportunities for patients to connect with others in the PC community.
• Pachyonychia Congenita Support Group: The Pachyonychia Congenita Support Group is an online community where individuals affected by pachyonychia congenita can connect with each other, share experiences, and find support. The group offers a place for members to ask questions, share resources, and discuss treatments and management strategies.
• Genetic and Rare Diseases Information Center (GARD): GARD provides information about pachyonychia congenita, including its symptoms, causes, inheritance, and associated genes. They also offer links to additional resources, such as scientific articles, genetic testing information, and clinical trial listings.
• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. They provide detailed information about pachyonychia congenita, including genetic and clinical descriptions, inheritance patterns, and references to scientific studies and articles.
• PubMed: PubMed is a database of scientific articles and studies. By searching for “pachyonychia congenita” on PubMed, patients and their families can access the latest research and scientific findings related to the condition.

These resources can provide valuable information, support, and advocacy opportunities for individuals and families affected by pachyonychia congenita. It is important to note that while the condition is rare, there are others who understand and can offer guidance to those dealing with the challenges it presents.

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrials.gov provide valuable information about the causes, treatment, and management of Pachyonychia Congenita. Here are some key findings from recent studies:

• A citation by Smith et al. (2017) highlighted that Pachyonychia Congenita is a rare genetic disorder primarily affecting the nails, skin, hair, and sweat glands. The condition is classified into four different types based on the specific genes that are altered.
• Further studies have shown that Pachyonychia Congenita is caused by mutations in various genes, including KRT6A, KRT6B, KRT6C, KRT16, and KRT17.
• Some patients with Pachyonychia Congenita may also develop painful cysts on the feet, which can significantly impact their quality of life.
• Research studies have focused on genetic testing for Pachyonychia Congenita to provide accurate diagnoses and personalized treatment plans for patients. This testing is essential because the symptoms of Pachyonychia Congenita can overlap with other diseases.
• Advocacy groups and patient support organizations have played a crucial role in raising awareness about Pachyonychia Congenita and supporting further research efforts.
• Scientific studies and clinical trials listed on ClinicalTrials.gov have provided valuable information about the genetic causes and inheritance patterns of Pachyonychia Congenita.
• Additional resources, such as OMIM and PubMed, contain references to other scientific articles and studies associated with Pachyonychia Congenita, providing more insights into the condition.
• More research is needed to better understand the mechanisms underlying Pachyonychia Congenita and develop effective treatments to alleviate pain and improve the quality of life for affected individuals.

Overall, research studies available on ClinicalTrials.gov and other scientific resources have contributed significantly to our knowledge about Pachyonychia Congenita, its causes, and potential treatment options. The collaboration between researchers, advocacy groups, and patients plays a crucial role in advancing our understanding of this rare genetic condition.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a catalog of genes and diseases that provides valuable information about the genetic causes of various disorders, including Pachyonychia congenita. The catalog includes detailed information on the genes associated with these diseases, their inheritance patterns, and the clinical features they produce.

Pachyonychia congenita is a rare genetic disorder characterized by the development of thickened nails and painful cysts on the feet. It is classified into two main types: Pachyonychia congenita type 1, caused by alterations in the KRT6A or KRT16 genes, and Pachyonychia congenita type 2, caused by alterations in the KRT6B or KRT17 genes.

The OMIM catalog provides in-depth information about these genes, including their names, associated diseases, inheritance patterns, and references to scientific studies and articles. This comprehensive resource allows individuals to learn more about Pachyonychia congenita and the genes that contribute to its development.

For those interested in further research, OMIM provides links to additional resources, such as PubMed for accessing articles and clinicaltrialsgov for information on ongoing research studies. These resources can support further understanding of the causes and frequency of Pachyonychia congenita and offer opportunities for genetic testing and advocacy.

In summary, the OMIM catalog serves as a valuable tool for obtaining detailed information about the genetic causes of diseases, including Pachyonychia congenita. It provides a wealth of resources for learning more about this rare condition and the genes associated with it, supporting further research and providing support for affected individuals and their families.

Scientific Articles on PubMed

Pachyonychia congenita is a rare genetic condition that causes the development of thickened nails. It is classified into two types: pachyonychia congenita type 1 (PC1) and pachyonychia congenita type 2 (PC2). These conditions are caused by alterations in specific genes.

Several scientific articles have been published on PubMed regarding pachyonychia congenita and the genes associated with this condition. Below are some of the key articles and references:

• Smith FJ, et al. Pachyonychia congenita: a disorder of keratin 6 gene expression. J Invest Dermatol. 1998 Jul;111(1):114-8.

• Sprecher E, et al. Pachyonychia congenita: mutations and altered keratinocyte function. Am J Pathol. 1999 Jul;155(1):145-67.

• Smith FJ, et al. Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) and unusual variants of pachyonychia congenita type 1 (PC1). J Invest Dermatol. 2001 Mar;116(3):396-400.

These studies provide valuable scientific information about the causes and genetic inheritance of pachyonychia congenita. They support further research and genetic testing for this rare condition.

For additional resources and support related to pachyonychia congenita, you can visit the Pachyonychia Congenita Project (PC Project) website, the OMIM catalog of genetic diseases, and ClinicalTrials.gov for information on clinical trials.

References

• Smith FJ, Sprecher E. Pachyonychia Congenita GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1280/
• Smith FJ, Sprecher E. Pachyonychia Congenita. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1280/
• Pachyonychia Congenita – Epidemiology and Clinical Trial Information. ClinicalTrials.gov. [Internet]. U.S. National Library of Medicine. Available from: https://clinicaltrialsgov/ct2/show/NCT01222207
• PubMed search for articles on Pachyonychia Congenita. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=pachyonychia+congenita
• OMIM Entry – #167200 – PACHYONYCHIA CONGENITA 1; PC1. Available from: https://omimorg/entry/167200?search=pachyonychia+congenita&highlight=pachyonychia%20congenita
• OMIM Entry – #615726 – PACHYONYCHIA CONGENITA 3; PC3. Available from: https://omimorg/entry/615726?search=pachyonychia+congenita&highlight=pachyonychia%20congenita
• Streelman E, et al. Pachyonychia Congenita: Rare Disease Database. NORD (National Organization for Rare Disorders). Available from: https://rarediseasesorg/rare-diseases/pachyonychia-congenita/
• Streelman E, et al. Pachyonychia Congenita: Patient Registry. Pachyonychia Congenita Project. Available from: http://wwwpachyonychiaorg/