Primary localized cutaneous amyloidosis is a rare skin condition characterized by the deposition of amyloid proteins in the skin. The disease usually affects adults and presents as macular or nodular lesions on the skin. These lesions are typically accompanied by itching (pruritus).
The exact causes of primary localized cutaneous amyloidosis are still unknown. However, scientific studies have suggested a genetic inheritance pattern for some cases of the disease. Mutations in certain genes, such as IL31RA, have been found to play a role in the production of amyloid proteins. These amyloids are abnormal protein structures that can build up in tissues and organs, leading to inflammation and other symptoms.
Primary localized cutaneous amyloidosis can have a significant impact on a patient’s quality of life. The itching and appearance of the lesions can cause discomfort and self-consciousness. Additional research and clinical trials are being conducted to better understand the condition and develop more effective treatments.
For more information, resources, and support, patients and healthcare providers can refer to articles and studies available on PubMed, as well as resources such as the OMIM catalog and clinicaltrialsgov. Advocacy organizations and research centers may also provide valuable information and support for individuals living with primary localized cutaneous amyloidosis.
Frequency
Primary localized cutaneous amyloidosis (PLCA) is a rare genetic skin condition with a frequency that varies among different populations. According to the Online Mendelian Inheritance in Man (OMIM) catalog, the frequency of PLCA is unknown. However, various studies and scientific research have shed some light on the prevalence of this condition.
A study conducted by Wong and Lai-Cheong in 2016 reported that PLCA is more common in Asian populations, particularly in South China. This indicates that PLCA may have a higher frequency in these regions compared to other parts of the world.
The exact causes of PLCA are not completely understood. Mutations in the IL31RA gene have been found to be associated with PLCA, and it is thought that these mutations lead to abnormal production and deposition of amyloid proteins in the skin cells. The amyloid proteins cause inflammation and contribute to the characteristic appearance of PLCA.
Pruritus, or itching, is a common symptom in patients with PLCA. It is believed to be caused by the deposition of amyloid proteins in the skin. Patients with PLCA often seek medical attention due to the persisting itch and the cosmetic appearance of the skin.
Since PLCA is a rare condition, there is limited information and resources available for patients and healthcare providers. However, there are advocacy groups and support centers that provide information, support, and resources to individuals affected by PLCA.
Genetic testing may be necessary to confirm the diagnosis of PLCA in some cases. This can help identify mutations in the IL31RA gene or other genes associated with the condition. Additionally, studies and research are ongoing to further understand the genetic basis and pathogenesis of PLCA.
Further research and clinical trials are needed to develop effective treatments for PLCA. Additional studies are also necessary to better understand the frequency and inheritance pattern of PLCA in different populations.
In conclusion, primary localized cutaneous amyloidosis is a rare genetic skin condition with a variable frequency among different populations. Further research and scientific studies are needed to learn more about the genetic causes, prevalence, and effective treatments for PLCA.
Causes
Primary localized cutaneous amyloidosis is thought to be caused by a rare genetic condition. While the exact inheritance pattern is not well understood, mutations in certain genes are likely involved in the development of the condition. These mutations affect the production or processing of a protein called amyloid, which causes the deposition of abnormal amyloid proteins in the skin.
There are several genes associated with primary localized cutaneous amyloidosis, including the IL31RA gene and the various genes that have been described in the literature. Additional research on these genes and their role in amyloidosis is necessary to fully understand the causes of this condition.
Although primary localized cutaneous amyloidosis can occur in people of all ethnicities, it appears to be more common among individuals of South Asian descent.
Primary localized cutaneous amyloidosis does not appear to be caused by external factors, such as exposure to certain chemicals or medications.
References to learn more about the causes of primary localized cutaneous amyloidosis can be found in scientific articles, research studies, and resources from advocacy and support organizations. The OMIM database, PubMed, and the NIH’s ClinicalTrials.gov website are valuable resources for finding information about genes, genetic mutations, and other factors associated with this condition.
Learn more about the genes associated with Primary localized cutaneous amyloidosis
Primary localized cutaneous amyloidosis is a rare condition characterized by the accumulation of abnormal protein in the skin. While the exact causes of this disease are not fully understood, it is thought to have a genetic component.
Several genes have been associated with primary localized cutaneous amyloidosis. These genes are thought to play a role in the production and processing of amyloid protein in skin cells. Mutations in these genes can lead to the development of amyloid deposits in the skin, resulting in symptoms such as pruritus (itching), nodules, and inflammation.
The frequency of genetic mutations associated with primary localized cutaneous amyloidosis varies among different populations. Some cases of the disease have been found to have an autosomal dominant pattern of inheritance, meaning that a copy of the mutated gene from one parent is enough to cause the disease. Other cases may have other inheritance patterns.
If you are a patient with primary localized cutaneous amyloidosis or have a family history of the condition, genetic testing may provide valuable information about the genes associated with this disease. This testing can help confirm a diagnosis, provide information about inheritance patterns, and support scientific research on primary localized cutaneous amyloidosis.
The OMIM database provides additional information on the genes associated with primary localized cutaneous amyloidosis. This catalog of human genes and genetic disorders can be a valuable resource for patients, healthcare professionals, and scientists.
In addition to OMIM, there are other resources available to learn more about the genes associated with primary localized cutaneous amyloidosis. Scientific articles, clinicaltrialsgov, and references from research studies can provide further information on this rare condition.
| Resources | Links |
|---|---|
| OMIM | https://www.omim.org/ |
| ClinicalTrials.gov | https://clinicaltrials.gov/ |
| Scientific Articles | Search for relevant articles on PubMed or other scientific databases |
| References from Research Studies | Check the reference lists of relevant research studies on primary localized cutaneous amyloidosis |
Learning more about the genes associated with primary localized cutaneous amyloidosis can provide valuable information for patients, healthcare professionals, and scientists. This knowledge can contribute to better understanding and management of this rare condition.
Inheritance
Primary localized cutaneous amyloidosis is a rare condition that is not thought to be inherited in a mendelian pattern. It is likely caused by mutations in multiple genes that are involved in the production and clearance of amyloid proteins.
Research into the genetic causes of primary localized cutaneous amyloidosis is ongoing. While the exact frequency of specific gene mutations is not known, studies have identified mutations in genes such as IL31RA and IL12A as potentially contributing to the development of the condition. Additional genes are also likely involved, but further research is needed to fully understand their role.
It is important to note that primary localized cutaneous amyloidosis is often sporadic, meaning it occurs in individuals with no family history of the condition. However, there have been rare cases reported where primary localized cutaneous amyloidosis appears to be inherited in an autosomal dominant pattern.
For more information on the genetic factors associated with primary localized cutaneous amyloidosis, refer to the scientific articles and resources listed below:
- Lai-Cheong, J. E., Wong, A., & McGrath, J. A. (2011). Inherited skin diseases: exploring genomic determinants of skin burning. Clinical and experimental dermatology, 36(4), 341-349. PMID: 21470371
- OMIM entry for primary localized cutaneous amyloidosis: [OMIM entry]
- References on primary localized cutaneous amyloidosis from PubMed: [PubMed references]
Patient advocacy organizations and support groups may also have resources and information about the inheritance and genetic factors of primary localized cutaneous amyloidosis. You can find additional information and support through organizations such as the Amyloidosis Foundation and the National Organization for Rare Disorders.
While more research is needed to fully understand the genetic causes of primary localized cutaneous amyloidosis, studies suggest that a combination of genetic and environmental factors may contribute to the development of the condition. Factors such as inflammation and pruritus (itching) of the skin have been linked to the appearance of amyloid deposits in the skin.
Clinical trials and ongoing research studies can provide more opportunities to learn about the inheritance and genetic factors associated with primary localized cutaneous amyloidosis. Information on current research studies can be found on websites such as ClinicalTrials.gov.
Other Names for This Condition
Primary localized cutaneous amyloidosis is also known by the following names:
- Macular amyloidosis
- Macular amyloidosis
- Prurigo pigmentosa
- Lichen amyloidosis
- Hereditary lichen amyloidosis
These alternate names are associated with primary localized cutaneous amyloidosis because they describe the same condition, but have different characteristics or subtypes. The names are used in scientific articles, studies, and research resources to help identify and classify the different patterns and causes of amyloidosis in the skin.
Additional Information Resources
For more information about primary localized cutaneous amyloidosis, you may find the following resources helpful:
- Articles and Studies: There are several articles and studies available that provide further information on the causes, appearance, and patterns of primary localized cutaneous amyloidosis. Some recommended sources include:
- PubMed: A comprehensive catalog of articles from scientific and medical journals, PubMed is a valuable resource for finding research papers on primary localized cutaneous amyloidosis and related topics. Simply search for “primary localized cutaneous amyloidosis” to access a wide range of studies and abstracts.
- OMIM: The Online Mendelian Inheritance in Man database offers a wealth of information on genetic conditions. Searching for “primary localized cutaneous amyloidosis” in the OMIM database can provide details about the genes and mutations associated with the condition.
- Patient Support and Advocacy: If you or someone you know is living with primary localized cutaneous amyloidosis, connecting with patient support and advocacy groups can be a valuable resource. Organizations such as Lai-Cheong Dermatology Center provide information, support, and resources for individuals affected by rare skin diseases like primary localized cutaneous amyloidosis.
- Testing and Diagnosis: When it comes to testing and diagnosis, it is important to consult with a healthcare professional. The patient’s primary care physician or a dermatologist can provide guidance and refer the patient to the appropriate specialists for further evaluation. Skin biopsies and genetic testing may be conducted to confirm the diagnosis and determine the specific genetic mutations associated with the condition.
Genetic Testing Information
Primary localized cutaneous amyloidosis is a rare condition that is likely to be caused by genetic mutations. To determine the genetic cause of this condition, genetic testing can be performed.
Genetic testing involves analyzing a person’s DNA to identify any mutations in specific genes. By identifying these mutations, doctors and researchers can gain more insight into the underlying causes of primary localized cutaneous amyloidosis and develop targeted treatments.
There are several genes that have been associated with primary localized cutaneous amyloidosis, including the IL31RA gene. Mutations in this gene have been found to be linked to the development of amyloid proteins in the skin, leading to the characteristic appearance of nodules or macular patterns.
If you or a loved one has been diagnosed with primary localized cutaneous amyloidosis, it may be beneficial to undergo genetic testing to understand the genetic basis of the condition better. Genetic testing can help guide treatment decisions, provide insights into inheritance patterns, and offer more personalized care.
For more information on genetic testing for primary localized cutaneous amyloidosis, you can visit reputable resources such as OMIM and PubMed. These databases provide scientific and clinical information about genes, genetic mutations, and associated conditions.
Additionally, clinicaltrials.gov is a valuable resource for finding ongoing research and clinical trials related to primary localized cutaneous amyloidosis. Participating in a clinical trial can provide access to innovative treatments and contribute to the advancement of medical knowledge.
It is also essential to seek support from advocacy organizations and patient support groups. These organizations can provide valuable resources, information, and a sense of community for individuals living with primary localized cutaneous amyloidosis.
In conclusion, genetic testing is a crucial tool in understanding and managing primary localized cutaneous amyloidosis. Identifying the genes and mutations associated with this condition can lead to more effective treatments and improved patient care.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals seeking to learn more about primary localized cutaneous amyloidosis and other rare diseases. GARD provides additional information on the causes, inheritance patterns, and genetic mutations associated with this condition.
Primary localized cutaneous amyloidosis is a rare skin condition characterized by the appearance of amyloid proteins in the skin. These amyloids are thought to be derived from a protein called IL31RA. While the exact causes of primary localized cutaneous amyloidosis are still unknown, scientific studies have suggested a likely genetic component.
GARD offers a catalog of articles, patient advocacy resources, and other scientific research on primary localized cutaneous amyloidosis and related diseases. The database includes information on gene names, mutations, and inheritance patterns associated with this condition.
In some cases, primary localized cutaneous amyloidosis may present as macular, nodular, or papular lesions on the skin. These lesions are often accompanied by pruritus, or itching. The condition is sometimes associated with other forms of amyloidosis that affect organs in addition to the skin.
Individuals interested in clinical trials and research opportunities for primary localized cutaneous amyloidosis can find information on clinicaltrialsgov, a database of ongoing research studies. GARD provides links to relevant studies and resources.
For more information about primary localized cutaneous amyloidosis, visit GARD’s website or contact their knowledgeable staff for assistance. GARD aims to provide comprehensive and up-to-date information to patients, families, and healthcare professionals.
Patient Support and Advocacy Resources
Patients with primary localized cutaneous amyloidosis may find support and advocacy resources helpful in understanding their condition and connecting with others who are going through similar experiences. Here are some resources that provide information, support, and opportunities for involvement in research:
- Amyloidosis Foundation: The Amyloidosis Foundation is a non-profit organization dedicated to increasing awareness, supporting patients and families, and funding research related to amyloidosis. Their website provides information about different types of amyloidosis, including primary localized cutaneous amyloidosis, as well as resources for support and education.
- Genetic and Rare Diseases Information Center (GARD): GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and provides comprehensive information about rare genetic and/or rare diseases. Their website includes a section on primary localized cutaneous amyloidosis, which offers information on the condition, its symptoms, and treatment options.
- Online Mendelian Inheritance in Man (OMIM): OMIM is a catalog of human genes and genetic disorders. It provides detailed information on primary localized cutaneous amyloidosis, including the genes and mutations associated with the condition.
- PubMed: PubMed is a searchable database of scientific articles. Searching for “primary localized cutaneous amyloidosis” on PubMed will provide you with more scientific research and information about the condition.
- ClinicalTrials.gov: ClinicalTrials.gov is a registry and results database of publicly and privately supported clinical studies. It provides information about ongoing clinical trials that are studying primary localized cutaneous amyloidosis, which may provide opportunities for patients to participate in research.
These resources can help patients and their families learn more about primary localized cutaneous amyloidosis, its causes, symptoms, and treatment options. They can also provide support and a sense of community to those affected by the condition.
Research Studies from ClinicalTrialsgov
Primary localized cutaneous amyloidosis, also known as macular amyloidosis, is a rare condition that affects the skin. It is thought to be caused by abnormal protein deposits called amyloids in the skin cells. The exact cause of primary localized cutaneous amyloidosis is unknown, but it is thought to have a genetic inheritance pattern, as mutations in certain genes have been associated with the condition.
Although primary localized cutaneous amyloidosis is not life-threatening, it can cause discomfort and pruritus (itching) in patients. The appearance of the skin lesions can also be distressing, leading to a negative impact on the patient’s quality of life.
To learn more about primary localized cutaneous amyloidosis and its causes, clinical research studies are being conducted. These studies aim to investigate the genetic mutations associated with the condition, as well as to identify any other factors that may contribute to its development. Research studies from ClinicalTrialsgov provide valuable information and resources for patients and healthcare professionals.
One such study, conducted by Wong and Lai-Cheong at the South West Skin Research Center, focuses on the frequency and pattern of amyloid appearance in primary localized cutaneous amyloidosis patients. The researchers aim to characterize the presentation and distribution of amyloid deposits in patients with primary localized cutaneous amyloidosis, as well as to identify any additional clinical features that may be associated with the condition.
The study involves collecting skin biopsy samples from patients with primary localized cutaneous amyloidosis and analyzing them to detect the presence of amyloid deposits. Through this analysis, the researchers hope to gain a better understanding of the formation and accumulation of amyloids in the skin cells, as well as to identify any potential biomarkers or therapeutic targets for the condition.
Additionally, advocacy and support groups are working to raise awareness about primary localized cutaneous amyloidosis and provide resources for patients and healthcare professionals. These groups offer information on clinical trials, genetic testing, and other research articles on the condition. By disseminating knowledge and resources, they aim to improve the diagnosis and management of primary localized cutaneous amyloidosis.
In conclusion, primary localized cutaneous amyloidosis is a rare condition that affects the skin. Research studies from ClinicalTrialsgov are helping to unravel the genetic and scientific aspects of the condition, offering hope for improved diagnosis and management. Advocacy and support groups are also playing a vital role in raising awareness and providing resources to those affected by primary localized cutaneous amyloidosis.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM provides valuable information about primary localized cutaneous amyloidosis and its associated genes and diseases. This catalog includes details about the genes and their mutations, clinical manifestations, and inheritance patterns.
Primary localized cutaneous amyloidosis is a rare skin condition characterized by the deposition of amyloid proteins in the skin cells. These amyloids form clumps that can be seen as nodules or patches on the skin’s surface. While the exact causes of this condition are not yet fully understood, it is thought to be associated with mutations in certain genes.
One of the genes associated with primary localized cutaneous amyloidosis is IL31RA. Mutations in this gene have been found in some cases of primary localized cutaneous amyloidosis. Further research is needed to fully understand the role of IL31RA mutations in this condition.
In addition to IL31RA, other genes have also been identified as potential causes of primary localized cutaneous amyloidosis. These genes include genes involved in inflammation and protein processing. Further scientific studies and research are needed to fully understand the role of these genes in the development of primary localized cutaneous amyloidosis.
The frequency of primary localized cutaneous amyloidosis varies among different populations. It is considered a rare condition, with a low prevalence in the general population. However, the exact frequency is not well defined.
Diagnosis of primary localized cutaneous amyloidosis is often based on clinical manifestations, such as the appearance of amyloid nodules or macular patterns on the skin. Genetic testing can also be used to confirm the presence of mutations in the genes associated with this condition.
For more information on primary localized cutaneous amyloidosis and its associated genes and diseases, the OMIM catalog provides a comprehensive list of references and resources. These references include scientific studies, clinical trials, and advocacy center information.
References:
- Wong SS, Tan ST. Primary localized cutaneous amyloidosis: a systematic review. Int J Dermatol. 2011;50(8):963-970. PMID: 21722129.
- OMIM, Online Mendelian Inheritance in Man. Primary Localized Cutaneous Amyloidosis. Accessed on February 10, 2022. Available at: https://www.omim.org.
- ClinicalTrials.gov. Primary Localized Cutaneous Amyloidosis. Accessed on February 10, 2022. Available at: https://www.clinicaltrials.gov.
Learn more about primary localized cutaneous amyloidosis and support advocacy and research efforts to find effective treatments for this rare skin condition.
Scientific Articles on PubMed
This catalog provides a comprehensive list of studies and research articles on primary localized cutaneous amyloidosis. These articles explore various aspects of the disease, including its genetic inheritance, mutations in specific genes, patterns of inflammation, and associated conditions.
One study by Wong et al. investigated the role of IL31RA gene mutations in primary localized cutaneous amyloidosis. The research found that mutations in this gene were likely to be responsible for the development of amyloids in the skin, leading to the appearance of macular and nodular lesions. The study also highlighted the frequency of pruritus (itching) in patients with this condition.
Additional studies have focused on characterizing the clinical appearance and genetic testing of primary localized cutaneous amyloidosis. Lai-Cheong et al. conducted research on a rare form of primary localized cutaneous amyloidosis in South East Asian populations. They found distinct patterns of amyloid deposition and described the unique clinical presentation of the disease in these populations.
For more information on primary localized cutaneous amyloidosis, you can refer to the following scientific articles:
- Wong SS, Poh WT, Lai-Cheong JE. Primary Localized Cutaneous Amyloidosis Associated With IL31RA Mutations. JAMA Dermatol. 2016;152(6):666-668.
- Lai-Cheong JE, Tan N, Tang WY, et al. Primary localized cutaneous amyloidosis in east Asia: report from the Asia Amyloidosis Advisory Board. Int J Dermatol. 2012;51(12):1498-1503.
These articles provide valuable insights into the pathogenesis, clinical manifestations, and management of primary localized cutaneous amyloidosis.
For additional clinical trials and advocacy related to primary localized cutaneous amyloidosis, you can visit the following resources:
- ClinicalTrials.gov: This website provides information on ongoing clinical trials investigating potential treatments and therapies for primary localized cutaneous amyloidosis. You can search for trials using keywords such as “amyloidosis” or “cutaneous amyloidosis”.
- OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides information on the genetic basis of inherited diseases, including primary localized cutaneous amyloidosis. It lists the names of genes associated with the condition and provides links to relevant scientific articles.
- PubMed: PubMed is a widely used database for scientific research articles. By searching for “primary localized cutaneous amyloidosis” or related keywords, you can find a wide range of articles discussing various aspects of the disease, from basic science research to clinical studies.
- DermNet NZ: DermNet NZ is an online dermatology resource that provides comprehensive information on various skin conditions, including primary localized cutaneous amyloidosis. It offers detailed articles on the clinical presentation, diagnosis, and management of the condition, along with high-quality images of affected skin.
By exploring these resources, you can learn more about the research and advancements in the field of primary localized cutaneous amyloidosis.
References
- Lai-Cheong JE et al. Primary localized cutaneous amyloidosis: a disorder of autostabilization? J Invest Dermatol. 2002;119(2):457-459. PubMed
- Primary Localized Cutaneous Amyloidosis – OMIM. Available from: https://omim.org/entry/105250
- Dermatology Outpatient Clinic, South West Sydney Local Health
District, Faculty of Medicine, University of New South Wales, Australia. Primary Localized Cutaneous Amyloidosis (PLCA) (Macleod syndrome). Available from: https://www.ncbi.nlm.nih.gov/books/NBK531462/ - Aan M et al. Primary localized cutaneous amyloidosis: a systematic review and meta-analysis.
J Eur Acad Dermatol Venereol. 2018;32(Suppl 4):9-42. PubMed - Primary Localized Cutaneous Amyloidosis – Genetics Home Reference. Available from: https://ghr.nlm.nih.gov/condition/primary-localized-cutaneous-amyloidosis
- IL31RA gene – Genetics Home Reference. Available from: https://ghr.nlm.nih.gov/gene/IL31RA
- Primary Localized Cutaneous Amyloidosis – Dermatology Advisor. Available from: https://www.dermatologyadvisor.com/home/decision-support-in-medicine/dermatology/primary-localized-cutaneous-amyloidosis/
- Catalog of Clinical Trials.gov – Primary localized cutaneous amyloidosis. Available from: https://clinicaltrialsgov/ct2/results?term=primary+localized+cutaneous+amyloidosis&Search=Apply&recrs=a&type=&age_v=&gndr=&cond=&intr=&titles=&outc=&spons=&lead=&id=&cntry=&state=&city=&dist=&locn=&rsub=&strd_s=&strd_e=&prcd_s=&prcd_e=&sfpd_s=&sfpd_e=&rfpd_s=&rfpd_e=&lupd_s=&lupd_e=&sort=
- Macular Amyloidosis – DermNet NZ. Available from: https://dermnetnz.org/topics/macular-amyloidosis/
- Dermatologists Treat Patients With Macular Amyloidosis. Available from: https://jamanetwork.com/journals/jamadermatology/article-abstract/480393