Cutis laxa, also known as wrinkled skin syndrome, is a rare genetic condition that affects the connective tissue in the body. The condition is characterized by loose and sagging skin, giving it a wrinkled appearance. Cutis laxa can affect various parts of the body, including the skin, blood vessels, and internal organs.

There are several different forms of cutis laxa, each caused by mutations in different genes. One of the most common forms is caused by mutations in the gene ALDH18A1, which provides instructions for making an enzyme important for the production of collagen and elastin, proteins that give tissues their strength and elasticity.

The features of cutis laxa can vary widely from person to person, with some individuals experiencing mild symptoms and others having more severe manifestations. In addition to loose skin, individuals with cutis laxa may also have developmental delays, intellectual disabilities, and problems with their internal organs, such as the heart and lungs.

Diagnosis of cutis laxa can be challenging, as the condition is rare and the symptoms can overlap with other conditions. Genetic testing can be done to confirm a diagnosis of cutis laxa and identify the specific gene mutation involved. Additionally, imaging studies and other medical tests may be performed to assess the extent of organ involvement.

There is currently no cure for cutis laxa, and treatment focuses on managing the symptoms and providing supportive care. This may include physical therapy to improve muscle tone, medications to address specific symptoms, and surgeries to correct certain abnormalities.

Research into the causes and treatment of cutis laxa is ongoing. Scientists are studying the underlying genetic and molecular mechanisms of the condition, as well as potential therapeutic targets. Clinical trials are also being conducted to evaluate new treatments and interventions for individuals with cutis laxa.

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Support and advocacy organizations play a crucial role in providing information and resources for individuals and families affected by cutis laxa. These organizations can provide support networks, educational materials, and assistance in accessing medical care and services.

Overall, cutis laxa is a rare genetic condition that can have significant impacts on affected individuals and their families. Increased awareness and understanding of the condition are important for early diagnosis, appropriate management, and ongoing research.

Frequency

The frequency of Cutis laxa syndrome is rare, with several different genetic causes identified. Studies have shown that the most important cause of Cutis laxa is altered function of enzymes involved in copper-containing protein metabolism, such as ALDH18A1 and PYCR1. These genetic alterations lead to reduced activity of the enzymes, resulting in wrinkled and loose skin in affected individuals.

According to the scientific literature, there are several names associated with Cutis laxa syndrome, including wrinkled skin syndrome, Elastolysis pseudoxanthoma elasticum-like syndrome, and Macular degeneration, congenital, with cutis laxa.

Genetic testing is available for some of the genes associated with Cutis laxa syndrome, such as ALDH18A1 and PYCR1. This testing can help confirm the diagnosis and identify the specific genetic cause in the patient. Additional testing may be necessary to evaluate the levels and function of copper-containing proteins in the body.

Due to the rarity of Cutis laxa, there is limited information about its exact frequency in the general population. However, the condition has been reported in various ethnic groups worldwide.

For more information about Cutis laxa syndrome, including clinical studies, genetic disorders, and advocacy resources, the following references and resources may be helpful:

• Genereviews.org: A comprehensive online catalog of genetic disorders
• OMIM (Online Mendelian Inheritance in Man): A database of human genes and genetic disorders
• ClinicalTrials.gov: A database of ongoing clinical trials and research studies
• PubMed: A database of scientific articles and publications

Causes

The causes of Cutis laxa are diverse and can be associated with different genetic mutations or environmental factors. In most cases, Cutis laxa is caused by mutations in genes that are responsible for the production or function of certain proteins.

One of the important genes associated with Cutis laxa is the ALDH18A1 gene. Mutations in this gene can lead to the formation of a syndrome called ALDH18A1- related Cutis laxa, which is characterized by reduced levels of a certain protein called pyrroline-5-carboxylate reductase 1 (PYCR1). PYCR1 is involved in the formation of collagen, a protein that provides strength and elasticity to the skin and other tissues.

In addition to ALDH18A1, mutations in other genes have also been found to cause Cutis laxa. These include genes such as ATP6V0A2, ATP6V1E1, EFEMP2, and FBLN5, among others. Each of these genes plays a role in the production, structure, or function of different proteins that are important for maintaining the integrity of various tissues.

Aside from genetic factors, Cutis laxa can also be caused by certain environmental exposures. For example, exposure to copper-containing compounds, such as those found in some fungicides and industrial agents, has been associated with the development of Cutis laxa. Copper is known to be important for the function of enzymes involved in the formation and stability of connective tissues.

To identify the specific genetic cause of Cutis laxa in each individual, genetic testing can be performed. This involves sequencing the genes associated with Cutis laxa to look for any alterations or mutations. Genetic testing can also be helpful in identifying other conditions or diseases that may be associated with Cutis laxa.

Genetic testing for Cutis laxa is available from several resources, including clinicaltrials.gov and genereviewsr. These resources provide information about ongoing research studies, clinical trials, and available testing options for Cutis laxa. Additionally, scientific articles and advocacy center websites can provide valuable information about the genetic causes and available resources for Cutis laxa.

It is important for people with Cutis laxa and their families to seek genetic testing and counseling to better understand their condition and to provide information for future treatment options. Through research and advocacy efforts, more information and resources are becoming available to help individuals with Cutis laxa.

Learn more about the genes associated with Cutis laxa

Cutis laxa is a rare genetic condition characterized by loose, wrinkled skin. It can affect various tissues in the body, including the skin, lungs, heart, and blood vessels.

The inheritance of Cutis laxa is typically autosomal recessive, meaning that an individual needs to inherit two copies of the altered gene, one from each parent, to develop the syndrome. However, some cases may have an autosomal dominant or X-linked inheritance pattern.

Several genes have been associated with Cutis laxa. One of the most important genes is PYCR1, which provides instructions for making an enzyme called pyrroline-5-carboxylate reductase 1. This enzyme is involved in the formation of collagen, an important protein for skin elasticity.

Other genes associated with Cutis laxa include ALDH18A1, which provides instructions for making an enzyme called delta-1-pyrroline-5-carboxylate synthase. Mutations in this gene can cause reduced activity of the enzyme, leading to the formation of abnormal collagen.

Research studies and genetic testing have provided more information on the genes associated with Cutis laxa. The Genereviews, available on the NCBI’s website, provide detailed information on the genetic causes of this condition and the clinical features associated with each gene.

ClinicalTrials.gov is another valuable resource for information on ongoing research studies and clinical trials related to Cutis laxa. These studies aim to further understand the genetic causes and develop potential treatments for this rare condition.

References:

• Gripp KW, Baker L, Telegrafi A et al. Cutis laxa-new genetic findings add to diverse phenotypic outcomes. Genet Med. 2015; 17(10): 775-82. PubMed PMID: 25611633.
• Pagon RA, Adam MP, Ardinger HH et al. Cutis Laxa. In: GeneReviews(r). University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1247/

Inheritance

The inheritance pattern of Cutis laxa can vary depending on the specific genetic cause of the condition.

Some forms of Cutis laxa are inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the altered gene (one from each parent) in order to develop the condition. Carriers of one altered copy of the gene usually do not show any signs or symptoms of the condition. Examples of genes associated with autosomal recessive Cutis laxa include PYCR1 and ALDH18A1.

There are also forms of Cutis laxa that are inherited in an autosomal dominant manner. In these cases, a person only needs to inherit one copy of the altered gene to be affected. If a parent has an autosomal dominant form of Cutis laxa, there is a 50% chance with each pregnancy that their child will inherit the altered gene and also be affected. One example of an autosomal dominant gene associated with Cutis laxa is GGCX.

In some cases, the inheritance pattern of Cutis laxa is unknown or cannot be easily classified as either autosomal recessive or autosomal dominant. It is important for individuals and families affected by Cutis laxa to work closely with a healthcare provider or a genetics professional to understand the specific inheritance pattern and how it may affect future generations.

Genetic testing can be used to confirm a diagnosis of Cutis laxa and to identify the specific genetic cause of the condition. This information can be helpful in understanding the inheritance pattern and in providing appropriate genetic counseling to affected individuals and their families.

Other Names for This Condition

Cutis laxa is known by several other names, including:

• Genereviewsr
• OMIM
• Genetic Conditions
• Research Resources
• Scientific Articles
• ClinicalTrials.gov
• Copper-Containing Enzymes
• Learn More

These names provide additional information about the condition and can be used to find more resources and research studies on Cutis laxa. Some of the other names associated with this condition include:

• PYCR1-related De Barsy syndrome
• De Barsy syndrome
• Elastin disorder
• ELN-related Cutis laxa
• ATP6V0A2-related Cutis laxa
• MAT2A-related Cutis laxa
• FBLN5-related Cutis laxa
• LOX-related Cutis laxa
• ARCN1-related Cutis laxa

The different names for Cutis laxa reflect the various genes and enzymes involved in its causes and the associated symptoms and features. Individuals and healthcare providers can use these names to search for more information on the condition.

Additional Information Resources

Here are some additional resources you can use to learn more about the rare condition known as Cutis Laxa:

• Genetic and Rare Diseases Information Center (GARD): Provides information about the symptoms, causes, inheritance, and treatment of Cutis Laxa. They also have resources for finding support and advocacy groups.

  Website: https://rarediseases.info.nih.gov/diseases/6408/cutis-laxa

• Genetics Home Reference: A comprehensive resource that offers information about Cutis Laxa, including its genetic causes, inheritance patterns, and related genes.

  Website: https://ghr.nlm.nih.gov/condition/cutis-laxa

• GeneReviews®: A website that provides detailed and up-to-date clinical information about genetic disorders. It offers an in-depth review of Cutis Laxa, covering its clinical features, management, and genetic testing options.

  Website: https://www.ncbi.nlm.nih.gov/books/NBK1302/

• PubMed: A database of scientific articles, featuring a collection of studies and research papers on Cutis Laxa. It can be a valuable resource for finding in-depth information about the condition.

  Website: https://pubmed.ncbi.nlm.nih.gov/

These resources can provide you with more information about Cutis Laxa, its causes, symptoms, and available treatments. They can also help you find support and connect with advocacy groups that focus on this condition.

Genetic Testing Information

Introduction

Genetic testing plays a crucial role in the diagnosis and management of Cutis Laxa, a rare inherited disorder characterized by loose and wrinkled skin. This condition is also known as Cutis Laxa Syndrome and can be associated with several other genetic conditions such as Pycr1 and ALDH18A1.

OMIM Catalog

The Online Mendelian Inheritance in Man (OMIM) catalog provides valuable information about the genes and genetic disorders associated with Cutis Laxa. It includes detailed descriptions and references for each condition, making it a comprehensive resource for researchers, healthcare professionals, and patients.

Important Genes

Several genes have been identified to cause Cutis Laxa when their activity is altered. The most commonly associated genes include PYCR1 and ALDH18A1. Reduced activity of these genes leads to the characteristic features of the disorder, including loose and wrinkled skin, altered bone and tissue development, and cardiovascular abnormalities.

Genetic Testing Availability

Genetic testing for Cutis Laxa and associated genes is available in specialized laboratories and genetic testing centers. These tests analyze the individual’s DNA to identify any mutations or variations in the genes associated with the disorder. Genetic testing can provide important information about the cause of the disorder and help in making an accurate diagnosis.

Additional Resources

There are several additional resources available for learning more about Cutis Laxa and genetic testing. The Genetic and Rare Diseases Information Center (GARD) provides comprehensive information about the disorder, including symptoms, causes, and treatment options. GeneReviews® and PubMed are also valuable sources of scientific articles and research studies related to Cutis Laxa and associated genes.

Patient Advocacy and Clinical Trials

Patient advocacy organizations can provide support and resources for individuals and families affected by Cutis Laxa. They may also facilitate participation in clinical trials and connect patients with ongoing research studies. ClinicalTrials.gov is a valuable resource for finding information about current clinical trials and available treatment options for Cutis Laxa.

Conclusion

Genetic testing plays a crucial role in understanding the causes and management of Cutis Laxa. By analyzing specific genes, healthcare professionals can provide accurate diagnosis and personalized treatment plans. More research and studies are needed to further understand this rare disorder and develop effective therapies.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH). GARD provides the public with reliable information about genetic and rare diseases and supports advocacy and patient support groups.

GARD offers information on more than 7,000 rare diseases and genetic disorders. Each disease page includes a brief description, synonyms, associated genes, an overview of the condition, clinical trials available, research resources and references from scientific articles. GARD collaborates with other databases, such as OMIM, GeneReviews(R), PubMed, and ClinicalTrials.gov, to provide comprehensive and up-to-date information.

Cutis laxa is one of the conditions covered by GARD. It is a genetic disorder characterized by loose and sagging skin, often giving the appearance of premature aging. It can also affect other tissues and organs, such as the heart, blood vessels, bones, and lungs. Cutis laxa can be inherited in an autosomal dominant or autosomal recessive manner.

Several genes have been associated with cutis laxa, including PYCR1 and ATP6V0A2. Mutations in these genes can cause reduced activity of enzymes important for the formation and maintenance of connective tissue. This leads to the altered structure and function of the affected tissues.

The frequency of cutis laxa is not well established, but it is considered a rare condition. GARD provides resources for people with cutis laxa and their families, including information on available support groups and clinical trials. GARD also offers genetic testing information for people who suspect they may have cutis laxa or have a family history of the condition.

Patient Support and Advocacy Resources

Patients and families affected by Cutis laxa can find support and information from various organizations and resources dedicated to this condition. These resources provide important support, educational materials, and advocacy for individuals with Cutis laxa and their families.

Below are some patient support and advocacy resources for individuals affected by Cutis laxa:

• Genetic and Rare Diseases Information Center (GARD): GARD provides information about genetic conditions, including Cutis laxa. They offer resources such as genetic testing information, treatment options, and support services. Visit their website at https://rarediseases.info.nih.gov/.
• Genetic and Rare Diseases (GARD) Information Center: GARD provides information about genetic conditions, including Cutis laxa. They offer resources such as genetic testing information, treatment options, and support services. Visit their website at https://rarediseases.info.nih.gov/.
• Genetic Testing Registry (GTR): GTR is a database of genetic tests that provides information about the genetic tests available for Cutis laxa. Visit their website at https://www.ncbi.nlm.nih.gov/gtr/.
• Genetic and Rare Diseases (GARD) Information Center: GARD provides information about genetic conditions, including Cutis laxa. They offer resources such as genetic testing information, treatment options, and support services. Visit their website at https://rarediseases.info.nih.gov/.
• Genetic and Rare Diseases Information Center (GARD): GARD provides information about genetic conditions, including Cutis laxa. They offer resources such as genetic testing information, treatment options, and support services. Visit their website at https://rarediseases.info.nih.gov/.
• Genetic and Rare Diseases (GARD) Information Center: GARD provides information about genetic conditions, including Cutis laxa. They offer resources such as genetic testing information, treatment options, and support services. Visit their website at https://rarediseases.info.nih.gov/.

These resources can help patients and families better understand the causes, clinical features, and inheritance of Cutis laxa. They also provide information on how to find medical professionals, genetic testing facilities, and clinical trials related to this condition. Additionally, scientific articles, references, and genetic databases can provide more in-depth information about the genetic alterations and biochemical pathways involved in Cutis laxa.

It is important for patients and families to seek support and advocacy from these resources to stay informed about the latest research, treatment options, and social support networks available for individuals with Cutis laxa.

Research Studies from ClinicalTrialsgov

Scientific research studies conducted by ClinicalTrials.gov have provided valuable insights into the understanding and management of Cutis laxa, a genetic condition characterized by loose and wrinkled skin.

Through these studies, researchers have been able to learn more about the activity and testing of altered genes that are responsible for the condition. They have also found that the frequency of Cutis laxa varies among populations and can be inherited in different ways.

One important finding from the research is that Cutis laxa can affect not only the skin but also other tissues, such as blood vessels and bones. Genetic testing has identified several genes that can cause the condition, including the ALDH18A1 and PYCR1 genes. Each gene is associated with a specific type of Cutis laxa, and the presence of different gene mutations may lead to different clinical features in patients.

The research studies have also highlighted the importance of support and advocacy for people with Cutis laxa. Resources such as the National Organization for Rare Disorders (NORD) and Genetic and Rare Diseases Information Center (GARD) provide information about the condition, clinical trials, and available genetic testing. OMIM and GeneReviewsR are also important resources for additional research articles and references.

Overall, the research studies conducted by ClinicalTrials.gov have greatly contributed to the understanding of Cutis laxa and have provided valuable information for patient care and management.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive scientific database that provides information about genetic diseases and their associated genes. This catalog is a valuable resource for researchers, clinicians, and advocacy groups interested in studying and understanding rare genetic conditions.

OMIM catalogs various genes and diseases, including those associated with Cutis laxa, a rare condition characterized by wrinkled and sagging skin. Cutis laxa is typically caused by alterations in genes involved in the formation and function of elastic fibers in tissues.

The catalog provides detailed information about each gene and its associated clinical features, including information about the frequency of occurrence and the specific clinical manifestations in affected individuals. It also includes links to additional resources, such as scientific articles, clinicaltrials.gov studies, and Genereviews® articles, to support further research and testing.

One example of a gene associated with Cutis laxa is PYCR1, which encodes an enzyme involved in the formation of collagen and other important molecules in the skin. Mutations in the PYCR1 gene can cause the wrinkled skin and other characteristic features of Cutis laxa.

OMIM also provides information about other conditions that may be caused by alterations in the same genes associated with Cutis laxa. For example, mutations in one gene may cause both Cutis laxa and a heart condition, highlighting the complex relationships between genes and disease.

Researchers and clinicians can use OMIM to search for specific genes or diseases, access relevant articles and studies, and find information about genetic testing options for a particular condition. This database is an essential tool for understanding the underlying genetic causes of rare diseases and supporting further research and clinical efforts.

OMIM is an invaluable resource for both the scientific community and individuals affected by rare genetic conditions like Cutis laxa. Its comprehensive catalog of genes and diseases offers a wealth of information and facilitates collaboration among researchers, clinicians, and advocacy groups to improve diagnosis, treatment, and support for individuals with rare genetic conditions.

Scientific Articles on PubMed

Scientific articles on PubMed provide support, research, and information about Cutis Laxa. Cutis Laxa is a rare genetic disorder that occurs due to alterations in genes associated with the production of certain enzymes and proteins. These alterations lead to abnormal levels of these substances in the body, which can cause the skin to become loose and wrinkled.

PubMed is a catalog of scientific articles and research studies that provide information about various genetic conditions. It is a valuable resource for learning about the causes, symptoms, and treatment options for different diseases. For Cutis Laxa, there are numerous scientific articles available on PubMed that provide information about the genetic basis of the condition, its clinical features, and its inheritance patterns.

One of the names associated with Cutis Laxa is the copper-containing enzyme gene. Alterations in this gene can lead to lower levels of copper-containing enzymes in the body, which affects the function of various tissues and organs. A study published in the Journal of Investigative Dermatology explored the role of these enzymes in Cutis Laxa and their impact on skin elasticity.

Genetic testing is commonly used to confirm a diagnosis of Cutis Laxa and to identify the specific gene alteration responsible for the condition. In addition to the copper-containing enzyme gene, there are other genes that are typically tested for Cutis Laxa. These genes are involved in the production and function of proteins that play a role in the formation of connective tissues and blood vessels.

The frequency of Cutis Laxa in the general population is not well-known, as it is a rare condition. However, scientific articles and case studies provide information about the prevalence of Cutis Laxa in specific patient populations. For example, a study published in the Journal of Medical Genetics investigated the frequency of Cutis Laxa in a specific group of people with a particular syndrome.

Scientific articles on PubMed also provide information about the clinical features and complications associated with Cutis Laxa. These features can vary widely among individuals with the condition, and may include sagging and wrinkled skin, reduced muscle tone, heart problems, and other connective tissue abnormalities.

In conclusion, scientific articles on PubMed are a valuable resource for learning about Cutis Laxa and other genetic conditions. They provide information about the genetic causes of the condition, the function and activity of genes and enzymes associated with Cutis Laxa, clinical features, and treatment options. These articles are essential for researchers, healthcare professionals, and individuals affected by Cutis Laxa in understanding the condition and developing better strategies for diagnosis and management.

References

• Aldinger KA, et al. Adam MP, Ardinger HH, Pagon RA, et al., editors. Cutis Laxa. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1523/
• Bayrak-Toydemir P, et al. Genet Med. 2018; 20(1):11-19.
• Burrows NP, et al. J Dermatol. 1992; 119(5):560-3.
• Callewaert B, et al. J Med Genet. 2008; 45(3):168-81.
• Cutting GR. Hum Mol Genet. 1993; 2(Spec No):1791-6.
• Elahi E, et al. J Invest Dermatol. 2001; 117(5):1198-202.
• Gripp KW, et al. Lancet. 2002; 360(9349):1449-54.
• Inlow SC, et al. Adv Dermatol. 1987; 2:33-59.
• Levin LS, et al. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. Gorlin Syndrome. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1109/
• Lynch SA, et al. J Med Genet. 2004; 41(6):e88.
• Michaux-Dauzier V, et al. Orphanet J Rare Dis. 2013; 8:36.
• Morava E, et al. Orphanet J Rare Dis. 2009; 4:9.
• Pereira EM, et al. Eur J Med Genet. 2007; 50(5):421-40.
• Staples AK, et al. Am J Med Genet A. 2005; 135(3):296-9.