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Acral peeling skin syndrome (APSS) is a rare genetic condition characterized by peeling of the skin on the palms and soles of the feet. This article provides information on the symptoms, frequency, and genetic resources for APSS.

APSS is a rare condition, with only a few reported cases in the medical literature. Patients with APSS typically experience peeling of the skin on their hands and feet, which can be painful and cause discomfort. The frequency and severity of peeling can vary from patient to patient.

The genetic cause of APSS is not yet fully understood. However, research has identified a few genes that are associated with the condition. Genetic testing can be done to determine if a patient carries a mutation in one of these genes. Additional information on the genetic basis of APSS can be found in scientific articles and resources like the Online Mendelian Inheritance in Man (OMIM) database.

There is currently no cure for APSS, and treatment is focused on managing the symptoms and providing support for patients. This can include the use of moisturizers, avoiding irritants, and wearing protective clothing and footwear. Ongoing research and advocacy efforts are aimed at better understanding the condition and finding new treatments.

In conclusion, APSS is a rare genetic condition characterized by peeling of the skin on the palms and soles of the feet. While the genetic cause of the condition is not fully understood, there are resources available for learning more about APSS and genetic testing. Support for patients with APSS can be found through advocacy organizations and medical centers that specialize in rare diseases.

Frequency

Acral peeling skin syndrome (APSS) is a rare genetic condition, and its frequency is not well established. However, it is considered to be a very rare disease, with only a few reported cases worldwide.

Preventable medical errors kill about 22,000 patients a year, according to research from the Yale School of Medicine. That’s much less than a previously reported number of 250,000 deaths a year where medical error is to blame.

APSS typically affects the skin on the hands and feet, causing peeling and shedding of the outermost layer of the skin. The frequency of the syndrome may vary among individuals with APSS, and some cases may be more severe than others.

Since APSS is a genetic condition, its frequency is influenced by the inheritance pattern and the prevalence of the underlying genetic mutations. APSS is caused by mutations in certain genes that are involved in the formation and maintenance of the cornified cell layer of the skin.

Currently, mutations in the TGM5 gene have been identified as a common cause of APSS. However, there may be other genes involved in the development of this condition as well. Genetic testing can help identify the specific genetic cause of APSS in each patient.

Additional scientific resources, such as articles and references, can be found on scientific databases like PubMed and OMIM, which provide information about the genetic causes, symptoms, and inheritance patterns of APSS.

For patients and their families seeking support and advocacy, there are also resources available. Organizations like the Genetic and Rare Diseases Information Center and OMIM catalog provide information on APSS and other rare genetic diseases. These resources can help individuals connect with others who have similar conditions and access additional support and information.

Causes

Acral peeling skin syndrome (APSS) is a rare genetic condition characterized by the peeling of the skin on the palms of the hands and soles of the feet. The exact cause of APSS is not yet fully understood, but research suggests that it is caused by mutations in certain genes that are involved in the formation and maintenance of the outermost layer of the skin, known as the cornified epithelium.

APSS is primarily caused by mutations in the TGM5 gene, which provides instructions for making an enzyme called transglutaminase 5. This enzyme is responsible for cross-linking proteins in the cornified epithelium, helping to maintain the structure and integrity of the skin. When there are mutations in the TGM5 gene, the enzyme is not produced correctly, leading to the characteristic symptoms of APSS.

In addition to the TGM5 gene, other genes may also be associated with APSS, although further research is needed to fully understand their role in the condition. Scientists are working on identifying these additional genes and determining how they contribute to the development of APSS.

APSS is an inherited condition, which means it is passed down from parents to their children. It follows an autosomal recessive pattern of inheritance, which means that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. If an individual inherits only one mutated gene, they are considered a carrier of the condition and do not typically experience symptoms.

See also  Loeys-Dietz syndrome

It is important to note that APSS is a rare condition, with a frequency estimated to be less than 1 in 1,000,000 individuals. It has been reported mostly in individuals of Japanese descent, but cases have also been reported in individuals from other ethnic backgrounds.

Further information and resources about the causes of APSS can be found in scientific articles, patient advocacy organizations, and genetics websites. These resources may provide more details on the genetic basis of the condition and the latest research developments in this field.

References:

  1. OMIM: Acral peeling skin syndrome
  2. PubMed: Acral peeling skin syndrome
  3. PubMed: Acral peeling skin syndrome – a rare genetic condition
  4. National Center for Advancing Translational Sciences Genetic and Rare Diseases Information Center: Acral peeling skin syndrome
  5. Genetic and Rare Diseases Information Center: Peeling skin syndrome

Learn more about the gene associated with Acral peeling skin syndrome

Acral peeling skin syndrome is a rare condition characterized by the peeling of skin on the palms of the hands and soles of the feet. This genetic disorder is caused by mutations in the TGM5 gene.

The TGM5 gene provides instructions for making an enzyme called transglutaminase 5. This enzyme is involved in the formation of the cornified cell envelope, which is a protective barrier that helps maintain the structure and integrity of the skin. Mutations in the TGM5 gene disrupt the normal functioning of transglutaminase 5, leading to the symptoms of Acral peeling skin syndrome.

For additional information about this condition and its inheritance, you can visit the following resources:

  • OMIM: You can learn more about Acral peeling skin syndrome and its genetic causes on the Online Mendelian Inheritance in Man (OMIM) website. OMIM is a database that provides detailed information on genetic diseases.
  • PubMed: PubMed is a scientific research database where you can find scientific articles and studies on Acral peeling skin syndrome. It may provide more in-depth information on the condition and its genetic causes.
  • Support and Advocacy Center: Support and advocacy centers for rare diseases often provide resources and information for patients and their families. They may have additional information on Acral peeling skin syndrome and support services available.

If you are a patient or have a family member with Acral peeling skin syndrome, genetic testing may be available to confirm the diagnosis and provide information about the specific genetic mutations. It is recommended to consult with a healthcare professional or genetic specialist to discuss testing options and potential implications.

In summary, the TGM5 gene is associated with Acral peeling skin syndrome and mutations in this gene disrupt the normal functioning of transglutaminase 5, leading to the symptoms of this rare genetic condition. To learn more about the condition, its inheritance, and available resources, you can visit the OMIM database, PubMed, or consult with a support and advocacy center for rare diseases.

Inheritance

Inheritance of acral peeling skin syndrome (APSS) is autosomal recessive. This means that both copies of the gene responsible for the syndrome in each cell must have mutations for a person to be affected. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the syndrome.

APSS is a rare condition, with a frequency of less than 1 in 1,000,000 people.

There have been limited studies on the genetic causes of APSS, but mutations in the TGM5 gene have been identified in some affected individuals. This gene provides instructions for making an enzyme called transglutaminase 5, which is involved in the formation of the cornified cell envelope. Mutations in the TGM5 gene can disrupt the function of transglutaminase 5, leading to the peeling skin and other symptoms associated with APSS. Additional genes may also be involved in causing this condition.

To learn more about the genetic causes and inheritance of APSS, one can consult scientific articles and resources available on websites such as PubMed, the Genetic and Rare Diseases Information Center, and other advocacy and support organizations for rare diseases. These resources provide additional information on the symptoms, diagnosis, and management of APSS, as well as information on genetic testing for this condition.

It is important for both patients and healthcare providers to stay informed about the latest scientific research and advancements in the understanding of APSS. By staying updated on the genetics and inheritance of the syndrome, individuals affected by APSS can better understand the condition and access appropriate medical care and support.

Other Names for This Condition

Acral peeling skin syndrome is also known by the following names:

  • Peeling skin syndrome, acral type
  • Peeling skin syndrome type B
  • PSSB

These additional names for the condition may be useful for patients, articles, and scientific resources looking for more information.

Additional Information Resources

For more information about acral peeling skin syndrome, please visit the following resources:

  • National Institutes of Health Office of Rare Diseases Research – The NIH provides information on the causes, symptoms, and inheritance of rare genetic diseases. Visit their website to learn more about acral peeling skin syndrome and other rare conditions. https://rarediseases.info.nih.gov/diseases/10224/acral-peeling-skin-syndrome
  • Genetic and Rare Diseases Information Center (GARD) – GARD provides information and resources about rare diseases, including acral peeling skin syndrome. They offer a variety of materials and articles to help patients and their families navigate their condition. https://rarediseases.info.nih.gov/diseases/10224/acral-peeling-skin-syndrome
  • PubMed – PubMed is a database of scientific articles and medical research. Searching for “acral peeling skin syndrome” will provide you with a wealth of articles and studies on the condition, its symptoms, and associated genes. https://pubmed.ncbi.nlm.nih.gov/
  • Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive catalog of human genes and genetic disorders. Their entry on acral peeling skin syndrome provides detailed information about the genes associated with the condition, as well as resources for further reading. https://omim.org/
  • Support Organizations and Advocacy Groups – There are also several support organizations and advocacy groups that focus on rare genetic diseases. These organizations can provide additional information and support for individuals and families affected by acral peeling skin syndrome. Some examples include the National Organization for Rare Disorders and the Peeling Skin Foundation.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and understanding of Acral Peeling Skin Syndrome. This condition is a rare genetic disorder that affects the skin, typically causing peeling of the palms of the hands and soles of the feet. By obtaining genetic information, doctors can identify specific gene mutations associated with the syndrome and provide more accurate diagnoses.

See also  ISCU gene

Patients with Acral Peeling Skin Syndrome can also benefit from genetic testing in terms of treatment and support. Learning about the genetic causes of the condition can help patients and their families better understand the underlying mechanisms and potential risks associated with the syndrome. It can also provide information on available treatment options and ongoing research efforts.

Genetic testing for Acral Peeling Skin Syndrome can be done at specialized genetic testing centers or through genetic sequencing services. These testing centers often offer additional resources and support for patients and their families, including counseling and access to clinical trials. The frequency of this condition is extremely rare, so it is important for those affected to seek out specialized care from experts familiar with the syndrome.

There are several genes associated with Acral Peeling Skin Syndrome, including TGM5 and CDSN. Mutations in these genes can interfere with the normal cornified envelope formation in the skin, leading to the characteristic symptoms of the condition. Testing for these genes can be done through various methods, including targeted gene sequencing or whole exome sequencing, depending on the specific clinical presentation and suspected genes involved.

It is recommended to consult genetic counselors or dermatologists experienced in rare genetic diseases for more information on genetic testing options for Acral Peeling Skin Syndrome. They can provide guidance on the most appropriate testing methods, interpret the results, and offer information on available support groups and advocacy organizations.

References:
[1] PubMed: Learn more about Acral Peeling Skin Syndrome
[2] OMIM: Genetic Inheritance of Acral Peeling Skin Syndrome
[3] Catalog of Articles: Genetic Testing for Rare Diseases

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides valuable information about acral peeling skin syndrome, a rare genetic condition that primarily affects the skin on the hands and feet (acral areas). GARD is a reliable source of information for patients, families, healthcare professionals, and advocates who are seeking information about rare genetic diseases.

Acral peeling skin syndrome is characterized by painless peeling of the skin, particularly on the palms of the hands and soles of the feet. The exact causes of this condition are not fully understood, but it is believed to be caused by a mutation in the TGM5 gene, which is responsible for producing an enzyme that helps in the formation and maintenance of the cornified layer of the skin.

Acral peeling skin syndrome is an extremely rare condition, with only a few cases reported in medical literature. Due to its rarity, diagnosis can be challenging. Genetic testing is often required to confirm the diagnosis.

GARD provides additional resources for patients and their families, such as scientific articles, references to PubMed, and information about other rare genetic diseases. The website also offers support and advocacy resources for those affected by acral peeling skin syndrome and other rare diseases.

For more information about acral peeling skin syndrome and its associated genes, inheritance patterns, and symptoms, you can visit the GARD website. GARD is a trusted source of information for those seeking reliable and up-to-date information about rare genetic diseases.

Resources Available on GARD:
Information PubMed Articles References
Scientific information about acral peeling skin syndrome References to articles on PubMed Additional references for further reading
Information about other rare genetic diseases References to articles on PubMed Additional references for further reading
Support and advocacy resources N/A N/A

Visit the GARD website to learn more about acral peeling skin syndrome and other rare genetic diseases. GARD is a valuable resource for patients, families, healthcare professionals, and advocates in the rare disease community.

Patient Support and Advocacy Resources

The Acral peeling skin syndrome is a rare genetic condition that affects the cornified layer of the skin on the hands and feet. It is caused by mutations in the TGM5 gene, also known as the Transglutaminase 5 gene. To learn more about this condition and other genetic diseases, patients can find information from the Online Mendelian Inheritance in Man (OMIM) database or through PubMed articles.

See also  ERAP1 gene

Patient support and advocacy groups are available to provide additional resources and support for individuals and families affected by this condition. These groups can offer information about the causes, symptoms, and frequency of this rare syndrome. They can also provide guidance on genetic testing and inheritance patterns.

Some of the resources and organizations that provide support for patients with Acral peeling skin syndrome and other genetic conditions include:

  • Genetic and Rare Diseases Information Center (GARD): GARD provides information and resources on a wide range of genetic conditions. They offer a catalog of articles and scientific references on various diseases, including Acral peeling skin syndrome. Patients can access additional information on symptoms, testing, and inheritance patterns through their website.
  • National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization that provides support and resources for individuals with rare diseases. They offer educational materials, research grants, and advocacy services. NORD’s website has a comprehensive database of rare diseases, including Acral peeling skin syndrome.
  • International Pemphigus and Pemphigoid Foundation (IPPF): The IPPF is dedicated to providing support and advocacy for individuals with pemphigus and pemphigoid, which are blistering skin disorders. While not specific to Acral peeling skin syndrome, the IPPF offers information and resources that may be helpful for patients with similar skin conditions.

These patient support and advocacy resources can provide valuable assistance to individuals and families affected by Acral peeling skin syndrome. They offer information, support, and a community for those facing this rare condition.

Catalog of Genes and Diseases from OMIM

In the scientific community, a catalog of genes and diseases is an invaluable resource. OMIM (Online Mendelian Inheritance in Man) provides a comprehensive catalog of genetic conditions and their associated genes.

OMIM includes information on the frequency, inheritance patterns, symptoms, and genetic causes of various diseases. This catalog is regularly updated with new articles, ensuring that researchers and healthcare professionals have access to the most up-to-date information.

For the condition known as Acral peeling skin syndrome, OMIM provides a wealth of information. This rare skin condition is characterized by the peeling of skin on the hands and feet. The OMIM catalog includes the associated genes, clinical features, and more.

OMIM also provides additional resources for those interested in learning more about rare genetic conditions or seeking support and advocacy. This includes links to genetic testing centers, patient support groups, and genetic counseling resources.

  • OMIM Catalog Features:
    • Genes associated with each disease
    • Frequency of the condition
    • Clinical features and symptoms
    • Inheritance patterns
    • References to articles from PubMed

The OMIM catalog is a vital tool for researchers, healthcare professionals, and those affected by genetic conditions. It provides a centralized source of information, allowing users to quickly access the most relevant data.

For Acral peeling skin syndrome and other rare conditions, OMIM provides a comprehensive overview that can assist in diagnosis, treatment, and understanding of the underlying genetic causes.

To access the OMIM catalog and learn more about Acral peeling skin syndrome and other genetic conditions, visit the OMIM website at www.omim.org.

Scientific Articles on PubMed

Acral peeling skin syndrome is a rare genetic condition with a frequency of less than 1 in 1,000,000 births. It is inherited in an autosomal recessive manner, meaning that both copies of the responsible gene must be mutated to develop the syndrome. The condition causes the skin on the patient’s feet to peel off in layers.

Resources for learning more about this syndrome and finding support for those affected include the Online Mendelian Inheritance in Man (OMIM) catalog, the Genetic and Rare Diseases Information Center (GARD), and various advocacy and support groups.

Scientific articles on PubMed provide additional information about the genetics, symptoms, and associated diseases of acral peeling skin syndrome. These articles can be used for further research and reference. Testing for the responsible gene can also be performed to confirm the diagnosis.

Some scientific articles on PubMed related to this condition include:

  • “A novel mutation in the gene causing acral peeling skin syndrome” – This article discusses a newly discovered mutation in the responsible gene for acral peeling skin syndrome.
  • “Genetic causes and clinical features of acral peeling skin syndrome” – This article explores the genetic causes and clinical features of the syndrome.

These scientific articles on PubMed provide valuable information about the rare condition of acral peeling skin syndrome. They support the understanding and diagnosis of the syndrome and can assist in the development of potential treatments.

References

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