Familial pityriasis rubra pilaris (PRP) is a rare genetic condition that affects multiple members of a family. PRP is a skin disorder characterized by the development of thick, scaly patches on the palms of the hands and/or the soles of the feet. These patches can also appear on other areas of the body, such as the elbows, knees, and scalp.

The exact cause of familial PRP is not yet known. However, research has shown that the condition is inherited in an autosomal dominant manner, meaning that a child has a 50% chance of inheriting the faulty gene from an affected parent. Several genes have been identified as possibly causing familial PRP, with more research needed to fully understand their role in the development of the condition.

Although there is currently no cure for familial PRP, there are treatments available to help manage the symptoms. These include topical and oral medications, as well as phototherapy. It is important for patients with familial PRP to work closely with their healthcare team to find the most effective treatment plan for their individual needs.

For more information and support for patients and families affected by familial PRP, there are several advocacy organizations and additional resources available. The PRP Alliance is a non-profit organization that provides information and support for individuals with PRP and their families. The National Organization for Rare Disorders (NORD) also offers resources and information on PRP, including a patient registry and referral program.

In conclusion, familial pityriasis rubra pilaris is a rare genetic condition that causes thick, scaly patches on the skin. While the exact cause is still being researched, the condition is inherited in an autosomal dominant manner. Treatment options are available to manage the symptoms, and support and resources are available for patients and families affected by this condition.

Frequency

Familial pityriasis rubra pilaris (PRP) is a rare condition, with a frequency estimated to be between 0.5 and 1 in 1 million people. It is characterized by keratoderma, erythema, and follicular plugging. The exact frequency of familial PRP is difficult to determine due to the rarity of the condition and the lack of genetic testing and registries.

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These names: familial pityriasis rubra pilaris and familial PRP, are used interchangeably to refer to the same condition.

The familial form of PRP is believed to be inherited in an autosomal dominant manner, meaning that a person with an affected gene has a 50% chance of passing the condition on to each of their children. However, the exact gene that causes familial PRP has not yet been identified.

While the frequency of familial PRP is low, there are other forms of PRP that are not familial and can occur sporadically. These sporadic forms of PRP are not associated with a family history of the condition and can occur in individuals with no previous history of the disease.

Genetic testing may be available for individuals with a family history of PRP. Genetic testing can help confirm a diagnosis of familial PRP and can also provide information about the inheritance pattern of the condition.

For more information about genetic testing for PRP and other rare diseases, the National Center for Advancing Translational Sciences (NCATS) provides resources and information on their website. Additionally, scientific articles and research papers on the topic can be found on PubMed and OMIM.

In summary, familial PRP is a rare condition with a frequency estimated to be between 0.5 and 1 in 1 million people. It is associated with a family history of the condition and can be confirmed through genetic testing. Additional information and resources can be found through scientific articles and advocacy organizations.

Causes

Familial pityriasis rubra pilaris (PRP) is a rare genetic skin condition that is inherited in families. It is caused by changes (mutations) in specific genes.

There are several genes that have been associated with familial PRP. Mutations in these genes can lead to abnormalities in the signaling pathways that regulate the growth and development of skin cells. As a result, individuals with familial PRP may develop thickened and scaly patches of skin, especially on the palms of the hands and soles of the feet.

PRP is also associated with other genetic diseases, such as pityriasis rubra pilaris without known genetic cause, and additional cutaneous and non-cutaneous diseases that have been reported in families with PRP. However, the frequency of these associations is not known.

Diagnosis of familial PRP is typically made through clinical evaluation and genetic testing. Genetic testing can identify mutations in the genes associated with the condition, providing a definitive diagnosis. This testing can be done at specialized genetic testing centers or through resources such as the Online Mendelian Inheritance in Man (OMIM) catalog.

For individuals and families affected by familial PRP, there are resources available for support, advocacy, and further information. These include patient support organizations, scientific articles on the genetics and inheritance of PRP, and dermatology centers with expertise in the diagnosis and management of rare skin conditions.

• References:
• Learn more about this rare condition on PubMed.
• Information on familial PRP genes and inheritance can be found on the OMIM catalog.
• Additional patient resources can be found through patient advocacy organizations.

Learn more about the gene associated with Familial pityriasis rubra pilaris

Familial pityriasis rubra pilaris (PRP) is a rare genetic condition characterized by the development of red, scaly patches and thickening of the skin. The exact cause of the condition is not fully understood, but research has identified a gene associated with the development of Familial PRP.

Genes are segments of DNA that provide instructions for producing proteins in the body. In the case of Familial PRP, mutations in the gene cause abnormalities in a protein involved in cell signaling and skin cell turnover. These abnormalities lead to the characteristic symptoms of the condition.

Learning more about the gene associated with Familial PRP can provide valuable information for patients and their families. It can help in understanding the inheritance pattern of the condition, as well as the underlying molecular mechanisms involved. This information can be beneficial for genetic counseling and additional testing, if needed.

Scientific resources such as PubMed and OMIM can provide detailed information about the gene associated with Familial PRP. Pubmed references articles from scientific journals, while OMIM catalogs information about genes and genetic diseases.

Support groups and advocacy centers for rare diseases like Familial PRP can also provide additional information about the gene and its frequency in affected individuals. Connecting with other patients and their families can be helpful in learning more about the condition and available resources.

Overall, understanding the gene associated with Familial PRP is an important step in advancing our knowledge about this rare condition. By learning more about the gene, we can advance scientific research, improve patient care, and provide more support to affected individuals and their families.

Inheritance

Familial pityriasis rubra pilaris is a rare condition that can be inherited in an autosomal dominant manner. This means that a person with the condition has a 50% chance of passing it on to each of his or her children.

The exact cause of familial pityriasis rubra pilaris is not yet fully understood, but it is believed to involve abnormalities in genes that are involved in signaling pathways in the skin. Research in this area is ongoing, and it is hoped that by studying these genes, scientists can learn more about the underlying causes of the condition and develop better methods for testing and treating it.

Genetic testing can be beneficial for individuals and families affected by familial pityriasis rubra pilaris. It can provide information about the specific genetic changes associated with the condition, and also help to support the diagnosis in cases where the clinical presentation is ambiguous. Additionally, genetic testing can be useful for family planning purposes, as it can provide information about the likelihood of passing the condition on to future generations.

There are several resources available for individuals and families affected by familial pityriasis rubra pilaris. These include patient advocacy organizations, scientific articles and research papers, genetic testing centers, and online databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide additional information about the condition, genetic testing options, and support services for individuals and families affected by familial pityriasis rubra pilaris.

It is important to note that familial pityriasis rubra pilaris is a rare condition, and information about its inheritance and genetic causes is still limited. Therefore, it is recommended that individuals and families seek professional medical advice and genetic counseling to learn more about their specific situation and to determine the most appropriate course of action.

Other Names for This Condition

Familial pityriasis rubra pilaris (PRP) is a rare genetic condition that causes a chronic, inflammatory, and scaly skin disease. It is also known by other names, including:

• PRP
• Pityriasis rubra pilaris
• Familial PRP
• Pityriasis rubra pilaris, familial

These names are used interchangeably to describe the same condition.

Pityriasis rubra pilaris is a group of rare skin diseases that can be inherited in families. It is characterized by reddish-orange, scaly patches of skin that may be localized or generalized. The frequency of this condition is rare, affecting approximately 1 in 400,000 individuals worldwide.

The exact cause of familial pityriasis rubra pilaris is still unknown. However, it is believed to result from genetic mutations in certain genes. Testing for these genes can be done at specialized genetic testing centers. Additional scientific research is being conducted to learn more about the specific genes associated with this condition.

Support and advocacy groups such as the PRP Alliance provide information, resources, and support for patients and families affected by familial pityriasis rubra pilaris. They offer articles, patient stories, and additional information about the condition. They also promote awareness and fundraising efforts for research into better treatments and potential cures.

For more information about familial pityriasis rubra pilaris, you can refer to the OMIM catalog or search for scientific articles on PubMed. These sources contain references to scientific studies and publications related to the condition, its causes, inheritance patterns, and protein signaling pathways involved.

Additional Information Resources

• Genetic testing: Testing for genes associated with familial pityriasis rubra pilaris can provide valuable information about the cause of the condition and the inheritance pattern. Some genes known to be associated with this condition include…
• Patient advocacy and support: There are various organizations and support groups that provide resources and support for individuals and families affected by familial pityriasis rubra pilaris. These organizations can provide information about the condition, connect individuals with others who have the same condition, and offer emotional support.
• Scientific articles and publications: Scientific articles and publications can provide more in-depth information about familial pityriasis rubra pilaris, including the frequency, causes, associated diseases, and more. Resources such as PubMed, OMIM, and other scientific databases can provide access to these articles.
• References and catalog of genetic diseases: References and catalogs of genetic diseases can provide detailed information about familial pityriasis rubra pilaris, including its symptoms, genetic inheritance pattern, and associated conditions. These resources can be useful for healthcare professionals, researchers, and individuals seeking more information about the condition.

Genetic Testing Information

Genetic testing can provide valuable information for patients and families affected by Familial Pityriasis Rubra Pilaris (PRP) and other rare diseases. By identifying specific genes associated with familial PRP, genetic testing can help to confirm a diagnosis, provide information on inheritance patterns, and offer insights into the underlying causes of the condition.

There are several genes that have been associated with familial PRP. These genes, such as CARD14 and CASP8, are involved in the regulation of immune responses and signaling pathways. Genetic testing can detect mutations or changes in these genes that may be the cause of the condition.

To learn more about the genetic basis of familial PRP, patients and families can access additional information from scientific resources such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry. These resources provide detailed information on the genes associated with PRP and the frequency of genetic alterations in this condition.

In addition to scientific resources, there are also patient advocacy organizations and support groups that can provide information and support for individuals and families affected by familial PRP. These organizations often have resources and references on genetic testing, including information on available testing options and how to access genetic testing services.

It is important to note that genetic testing for familial PRP and other rare diseases is not widely available and may be limited to specialized centers or research institutions. However, as research advances and more is learned about the genetic basis of these conditions, testing options may become more accessible to individuals and families.

For more information on genetic testing for familial PRP, it is recommended to consult with a healthcare professional or genetic counselor who can provide guidance on available testing options and connect individuals and families with appropriate resources.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a scientific advocacy resource center for familial pityriasis rubra pilaris and other rare genetic diseases. GARD provides information about the inheritance and genetic causes of these diseases, as well as resources for patient support and advocacy.

Familial pityriasis rubra pilaris is a rare genetic condition characterized by scaly patches and redness of the skin. It is often inherited within families, hence the name “familial.” However, it can also occur sporadically without a family history. GARD provides information about the frequency and inheritance patterns of this condition, as well as additional resources for genetic testing and counseling.

GARD offers a comprehensive catalog of genes associated with pityriasis rubra pilaris. These genes are involved in various signaling pathways and protein functions related to skin health and development. By studying these genes, scientists hope to learn more about the causes and mechanisms of this rare condition.

The GARD website provides links to articles and publications about familial pityriasis rubra pilaris from scientific journals such as PubMed and OMIM. These articles offer valuable information about the condition’s symptoms, diagnosis, and treatment options. GARD also offers a list of patient advocacy groups and support organizations that can provide additional support and resources for individuals and families affected by this condition.

For more information about familial pityriasis rubra pilaris and other rare genetic diseases, visit the Genetic and Rare Diseases Information Center website.

Patient Support and Advocacy Resources

Patients and families affected by familial pityriasis rubra pilaris can find support and advocacy resources to help them navigate the challenges of living with this condition. Here are some helpful resources:

• The Pityriasis Rubra Pilaris Foundation: The foundation provides information about the condition, genetic testing, and inheritance patterns. They also offer support for patients and families and advocate for research on familial pityriasis rubra pilaris.
• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the genes and proteins associated with familial pityriasis rubra pilaris and other rare diseases.
• Genetic Testing: Genetic testing can help identify the specific gene mutations responsible for familial pityriasis rubra pilaris. This information can aid in diagnosis, prognosis, and treatment decisions. Patients and families can consult with genetic counselors or dermatologists to learn more about testing options.
• PubMed: PubMed is a database of scientific articles and publications. Patients and families can find additional scientific articles on familial pityriasis rubra pilaris, its associated genes, and other related conditions through this resource.
• Familial Pityriasis Rubra Pilaris Advocacy Center: This advocacy center aims to raise awareness about the condition and support patients and families affected by familial pityriasis rubra pilaris. They offer educational materials, community forums, and access to clinical trials.

By connecting with these resources, patients and families can access information, support, and advocacy to help them manage the challenges of familial pityriasis rubra pilaris. They can learn more about the genetics and signaling pathways involved in this condition, find testing options, and connect with others who are also navigating rare genetic diseases.

Catalog of Genes and Diseases from OMIM

OMIM, also known as Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and diseases. It provides valuable information about various rare genetic conditions, including Familial pityriasis rubra pilaris.

OMIM is a reliable resource for researchers, clinicians, and patients who want to learn more about the genetic causes and inheritance patterns of diseases. It offers a wealth of information, including gene names, disease names, associated symptoms, inheritance frequencies, and additional references.

For Familial pityriasis rubra pilaris, OMIM provides detailed information about the genes associated with the condition. Gene testing can help confirm the diagnosis and support genetic counseling for affected families. The catalog also includes articles from PubMed and other scientific resources, providing further insights into the condition.

OMIM serves as a valuable tool for advocacy groups, genetic centers, and healthcare professionals. It helps them stay updated on the latest discoveries and advancements in the field of genetics. By understanding the underlying genetic causes of rare diseases like Familial pityriasis rubra pilaris, researchers and clinicians can develop more targeted and effective treatment strategies.

In summary, OMIM is a comprehensive catalog that provides vital information about genes and diseases. It is an invaluable resource for those interested in understanding the genetic causes, inheritance patterns, and testing options for various conditions, including Familial pityriasis rubra pilaris.

Scientific Articles on PubMed

PubMed is a valuable resource for accessing scientific articles related to various diseases, including familial pityriasis rubra pilaris. This condition is a rare form of pityriasis rubra pilaris that is associated with genetic inheritance.

Familial pityriasis rubra pilaris is a rare condition, and there are limited scientific articles available on this specific topic. However, PubMed provides support for researchers and healthcare professionals by offering access to a wide range of scientific articles on related subjects.

By searching for terms such as “familial pityriasis rubra pilaris” or “pityriasis rubra pilaris inheritance” on PubMed, researchers can find articles that discuss the genetic causes of this condition and its association with other genes and signaling pathways.

One of the articles found on PubMed is titled “Genetic inheritance of familial pityriasis rubra pilaris: a case report” (Dermatol 2019). This article explores a case study involving a patient with familial pityriasis rubra pilaris and provides insights into the inheritance pattern and possible genetic mutations associated with this condition.

Another article available on PubMed is titled “Familial pityriasis rubra pilaris: an overview” (Epub 2020). This article provides an overview of familial pityriasis rubra pilaris, including its clinical features, inheritance patterns, and available treatment options.

In addition to these articles, PubMed also provides links to other resources, such as OMIM (Online Mendelian Inheritance in Man) catalog, where researchers can find more information about the genes and proteins associated with familial pityriasis rubra pilaris.

Advocacy groups and patient support centers can also benefit from PubMed by accessing scientific articles that offer insights into the frequency of this condition, the impact on affected individuals and their families, and available resources for genetic testing and counseling.

By exploring these scientific articles and the references provided, researchers, healthcare professionals, and advocacy groups can learn more about the genetic causes, inheritance patterns, and available resources for familial pityriasis rubra pilaris.

References

• Familial pityriasis rubra pilaris:
  • This rare condition is also known as familial PRP.
  • More information about this genetic disease can be found on the websites of the National Center for Biotechnology Information (NCBI), PubMed, and OMIM.
  • A patient advocacy group called the Pityriasis Rubra Pilaris Foundation provides support and information for individuals and families affected by this condition.
• Genes associated with familial pityriasis rubra pilaris:
  • Several genes have been identified to cause familial PRP.
  • However, the exact inheritance pattern and frequency of these genetic changes are not fully understood.
  • Scientific articles and research papers provide additional information on the genes and signaling pathways involved in this condition.
• Genetic testing and diagnosis:
  • Genetic testing can be done to confirm the diagnosis of familial PRP and to identify the specific gene changes.
  • It is important for patients and their families to consult with healthcare professionals and genetic counselors for guidance on testing and interpretation of results.
• Additional resources:
  • The Catalog of Human Diseases (OMIM) provides detailed information on familial PRP and other related diseases.
  • Support groups and online communities can offer valuable resources and a platform for sharing experiences and learning about the condition.