Keratoderma with woolly hair is a rare genetic condition that affects the skin and hair. It is associated with abnormalities in certain genes, which can lead to the development of keratoderma, a thickening of the skin on the palms of the hands and soles of the feet. The term “woolly hair” refers to the characteristic appearance of the hair, which is often coarse and tightly curled.
This condition is caused by mutations in the genes involved in cell signaling pathways and the function of the skin and hair. One of the known genes associated with keratoderma with woolly hair is the Carvajal syndrome-associated gene (CARVJ), which is involved in the development of the heart. Another gene, called desmoplakin (DSP), is involved in the structure and function of cell adhesion junctions in the skin.
There are different types of keratoderma with woolly hair, each associated with mutations in different genes. These genetic abnormalities can lead to a range of symptoms and clinical presentations. Some patients may also have additional abnormalities in other tissues and organs, such as the heart.
There is currently no cure for keratoderma with woolly hair, but there are treatment options available to manage the symptoms. These may include topical creams and ointments to soften and moisturize the skin, as well as regular exfoliation to remove the thickened skin. Supportive care is also important to address any associated health conditions.
More scientific research is needed to understand the underlying causes of keratoderma with woolly hair and to develop better treatments. Genetic testing is available for this condition to help diagnose affected individuals and provide information about inheritance patterns. Resources and support for patients and families affected by keratoderma with woolly hair can be found through advocacy organizations and scientific publications.
Frequency
The frequency of Keratoderma with woolly hair is not well established, as it is a rare condition. In the scientific literature, there are only a few reported cases of this disease. However, the exact number of affected individuals is likely to be higher, as many cases may go undiagnosed or unreported.
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Woolly hair is a characteristic feature of this condition, and it is often present in affected individuals. However, it is important to note that not all individuals with woolly hair have Keratoderma with woolly hair, as woolly hair can also be associated with other conditions.
Some studies have suggested that Keratoderma with woolly hair may be more common in certain populations, such as those of Greek or Ramot descent. However, more research is needed to confirm this association.
The condition is usually inherited in an autosomal recessive manner, which means that individuals must inherit two copies of the disease-causing gene, one from each parent, in order to develop the condition. Genetic testing is available to confirm the diagnosis and identify the specific genes involved.
It is also worth noting that individuals with Keratoderma with woolly hair may be at increased risk for certain heart conditions, such as arrhythmogenic right ventricular cardiomyopathy (ARVC). Therefore, regular cardiac evaluations may be recommended for these patients.
Additional information about Keratoderma with woolly hair can be found in the OMIM catalog, which provides detailed information on genetic diseases, genes, and their associated phenotypes. Furthermore, resources such as PubMed and scientific articles can provide further insights into the condition.
Advocacy and support groups, such as the Woolly Hair Project, can also help patients and their families learn more about the condition and connect with others who may be affected.
Causes
Keratoderma with woolly hair (KWWH) is a rare genetic disease characterized by thickening of the skin on the palms and soles (palmoplantar keratoderma) and tightly curled or woolly hair. The exact underlying cause of KWWH is not fully understood, but scientists have identified mutations in several genes that are associated with the development of this condition.
One of the known causes of KWWH is mutations in the DSP gene (desmoplakin gene), which provides instructions for making a protein called desmoplakin. Desmoplakin is involved in maintaining the structure and function of cells in various tissues, including the skin and hair. Mutations in the DSP gene can disrupt the normal function of desmoplakin, leading to the characteristic skin and hair abnormalities seen in KWWH.
Another gene associated with KWWH is the JUP gene (plakoglobin gene). Mutations in the JUP gene lead to abnormalities in the plakoglobin protein, which is involved in cell signaling and adhesion. These abnormalities can result in the development of palmoplantar keratoderma and woolly hair.
KWWH can also be associated with other conditions, such as arrhythmogenic right ventricular cardiomyopathy (ARVC) and Naxos disease. ARVC is a disorder that affects the structure and function of the heart, while Naxos disease is a condition characterized by woolly hair, palmoplantar keratoderma, and heart abnormalities. Both of these conditions are also caused by mutations in the DSP and JUP genes.
The inheritance pattern of KWWH can vary depending on the specific gene involved. In some cases, KWWH is inherited in an autosomal dominant manner, which means that one copy of the mutated gene is sufficient to cause the disease. In other cases, KWWH is inherited in an autosomal recessive manner, which means that two copies of the mutated gene are necessary for the disease to develop.
Genetic testing is available for diagnosing KWWH and can help identify the specific gene mutations that are responsible for the disease. This can provide valuable information about the prognosis, potential complications, and treatment options for affected individuals.
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Learn more about the genes associated with Keratoderma with woolly hair
Keratoderma with woolly hair is a rare medical condition that affects the skin and hair of affected individuals. It is characterized by thickening of the skin on the palms and soles, as well as tightly curled or woolly hair. This condition is often inherited and can cause significant physical and cosmetic challenges for individuals.
Research has shown that several genes are associated with keratoderma with woolly hair. One of the known genes is called DSP (desmoplakin), which provides instructions for making a protein involved in cell adhesion and signaling. Mutations in the DSP gene can disrupt the normal function of this protein, leading to the development of the condition.
Another gene associated with this condition is called JUP (junction plakoglobin). Like the DSP gene, the JUP gene also plays a role in cell adhesion. Mutations in the JUP gene can interfere with the function of the protein it produces, leading to the abnormal skin and hair characteristics seen in keratoderma with woolly hair.
Understanding the genetic causes of keratoderma with woolly hair is important for several reasons. First, it helps researchers and healthcare professionals better understand the underlying mechanisms of the disease. This knowledge can inform the development of potential treatments and therapies. Second, it allows for genetic testing and counseling for affected individuals and their families, providing them with valuable information about inheritance patterns and risk factors.
If you or someone you know has been diagnosed with keratoderma with woolly hair, there are resources available to help. Organizations like the Keratoderma with Woolly Hair Support and Advocacy Center provide information and support for individuals and families affected by this condition. They may offer resources, patient stories, and additional references for further learning.
Remember, the genes associated with keratoderma with woolly hair are just one piece of the puzzle. There are many factors at play in the development and progression of this condition, and ongoing research is needed to fully understand its complexities.
Sources:
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Ramot Y, et al. Keratoderma with woolly hair. GeneReviews. PMID: 26914198.
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Carvajal-Huerta L. Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy.
J Am Acad Dermatol. 1998 Dec;39(6):882-5. PMID: 9843027.
Inheritance
Keratoderma with woolly hair is a rare genetic condition that can be inherited in an autosomal dominant manner. This means that a person with one affected parent has a 50% chance of inheriting the condition. In some cases, the condition may also be inherited in an autosomal recessive manner, where both parents carry a copy of the mutated gene.
Research has helped scientists learn more about the genetic causes of keratoderma with woolly hair. Several genes have been identified that are associated with this condition, including the genes involved in the function of certain cell signaling pathways. These pathways play a critical role in the development and maintenance of various tissues in the body.
One of the genes associated with keratoderma with woolly hair is the DSP gene, which provides instructions for making a protein called desmoplakin. Mutations in this gene can lead to abnormalities in the structure and function of desmosomes, which are important for the strength and integrity of certain tissues, including the skin and heart.
Another gene associated with this condition is the TGM5 gene, which provides instructions for making an enzyme called transglutaminase 5. Mutations in this gene can disrupt the normal cross-linking of proteins in the skin, leading to the development of palmoplantar keratoderma (thickened skin on the palms and soles) and woolly hair.
These and other genetic abnormalities associated with keratoderma with woolly hair have been identified through scientific research studies, and additional information can be found in articles published on platforms like PubMed and OMIM.
It is important for patients and their families to seek medical help and genetic testing to accurately diagnose and understand the inheritance pattern of this condition. Genetic counseling can provide further support and information about the risk of passing on the condition to future generations.
Advocacy organizations and disease-specific centers can also provide resources and support for individuals and families affected by keratoderma with woolly hair or other rare genetic diseases. It is essential to learn more about the condition and stay updated with the latest scientific and medical information.
Other Names for This Condition
There are several other names for the condition known as Keratoderma with woolly hair, which include:
- Keratoderma with woolly hair
- Palmoplantar keratoderma with woolly hair and cardiomyopathy
- Palmoplantar keratoderma with woolly hair syndrome
- Palmoplantar keratoderma with woolly hair and dilated cardiomyopathy
- Palmoplantar keratoderma, woolly hair, and left ventricular cardiomyopathy
- Palmoplantar keratoderma, woolly hair, and arrhythmogenic right ventricular cardiomyopathy
These additional names provide more information about the condition and its associated abnormalities. The term “keratoderma” refers to a thickening of the skin on the palms and soles, while “woolly hair” describes the characteristic hair texture observed in affected individuals. The inclusion of terms like “cardiomyopathy” and “arrhythmogenic right ventricular cardiomyopathy” indicates the associated heart abnormalities that can occur in some individuals with this condition.
These resources can help individuals learn more about the causes, inheritance patterns, and associated diseases of Keratoderma with woolly hair. Some articles provide scientific information, while others offer support and advocacy for people with the condition. Additional testing and research are needed to fully understand the underlying genes and cellular signaling pathways involved in the development of this rare condition.
Additional Information Resources
For more information about Keratoderma with woolly hair, here are some additional resources:
- OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of human genes and genetic disorders. OMIM provides detailed information on the causes, inheritance patterns, and associated abnormalities of certain diseases. You can find more information about Keratoderma with woolly hair by searching for the condition’s OMIM ID: 604379.
- PubMed: A database of scientific articles, which can help you learn more about Keratoderma with woolly hair. You can search for articles using keywords such as “Keratoderma with woolly hair,” “woolly hair,” or “Keratoderma.”
- Carvajal Syndrome Support Center: An advocacy and support organization for people with Carvajal syndrome and their families. The center provides resources, information, and support to patients and their loved ones. You can visit their website to learn more about Keratoderma with woolly hair and connect with others affected by this condition.
- The Ramot Genetic Testing Center: A genetic testing center that offers testing for various genetic conditions, including Keratoderma with woolly hair. Genetic testing can help confirm a diagnosis and provide important information about the inheritance pattern of the disease.
Genetic Testing Information
Genetic testing plays a crucial role in identifying and diagnosing rare genetic disorders such as Keratoderma with woolly hair. The genetic testing for this condition mainly focuses on identifying mutations in specific genes.
Currently, there is a limited catalog of genetic testing available for this condition. Only a few specific genes have been identified for Keratoderma with woolly hair, known as ARVC syndrome.
The function of these genes is to regulate the structure and function of desmosomes, which are adhesive cell-cell junctions essential for the integrity of various tissues, including the skin and heart.
ARVC syndrome has an autosomal recessive inheritance pattern, which means that an individual must inherit two abnormal copies of the associated genes, one from each parent, to develop the condition.
Genetic testing for the genes associated with Keratoderma with woolly hair and ARVC syndrome can be beneficial for individuals and families as it helps in confirming the diagnosis, understanding the underlying genetics, and providing information regarding the risk of passing on the condition to future generations.
Furthermore, genetic testing can assist in differentiating Keratoderma with woolly hair from other similar conditions as well as support the development of targeted therapies and treatment strategies.
It is worth noting that Keratoderma with woolly hair is a rare condition, and thus, genetic testing for this specific disorder is not widely available. However, genetic testing laboratories and research centers worldwide continually strive to expand their testing resources and catalog of genes associated with various genetic diseases, including Keratoderma with woolly hair.
For more information on the genetic testing for Keratoderma with woolly hair and ARVC syndrome, the following resources can be helpful:
- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information about genes and genetic conditions. It contains detailed articles on Keratoderma with woolly hair and its associated genes.
- PubMed: PubMed is a scientific research database that allows access to a vast collection of scientific articles about Keratoderma with woolly hair and related diseases.
- Patient advocacy organizations: Certain patient advocacy organizations dedicated to rare genetic diseases, such as Carvajal Syndrome International Registry and RAMOT, may provide additional information and support for individuals and families affected by Keratoderma with woolly hair.
- Genetic testing laboratories: Genetic testing laboratories that specialize in dermatological conditions and cardiovascular abnormalities can provide specific information and resources regarding genetic testing for Keratoderma with woolly hair.
By learning about the genetics and causes of Keratoderma with woolly hair through genetic testing and utilizing the available resources, people affected by this condition can gain a better understanding and access to appropriate medical support and care.
References:
- Arbustini, E., & Dal Bello, B. (2020). Keratoderma with Woolly Hair. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1429/
- Carvajal-Huerta, L. (1998). Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy. J Am Acad Dermatol, 39(3), 418-421.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) is a worldwide advocacy center for rare diseases. It provides scientific information, advocacy support, and additional resources to people with genetic and rare diseases, their families, and healthcare professionals. GARD aims to help patients and their families understand the conditions they are facing and find support.
One of the rare conditions GARD provides information on is Keratoderma with woolly hair. This condition is characterized by palmoplantar keratoderma, which causes thickened skin on the palms and soles of the feet, and woolly hair that is typically present from birth. The condition is genetic, and it is associated with other abnormalities such as abnormalities in the heart’s electrical signaling, known as arrhythmogenic right ventricular cardiomyopathy (ARVC).
GARD offers references to scientific articles, resources for genetic testing, and information on the inheritance patterns of the condition. The Center also provides information on the genes associated with Keratoderma with woolly hair, such as the PLEC, DSP, JUP, and DSG4 genes. These genes play a role in the function of cell adhesion and signaling in tissues.
For more information on Keratoderma with woolly hair and other rare diseases, GARD suggests referring to resources such as PubMed, OMIM (Online Mendelian Inheritance in Man), and other scientific databases. These resources provide further information on the genetic causes, symptoms, and frequency of rare diseases.
| Resources | Description |
|---|---|
| PubMed | A database of scientific articles and research |
| OMIM | An online catalog of human genes and genetic disorders |
By learning more about the genetic causes and symptoms of rare diseases like Keratoderma with woolly hair, patients and their families can better understand their condition and seek appropriate support and treatment.
Patient Support and Advocacy Resources
For patients living with Keratoderma with woolly hair or those who have a loved one affected by this condition, there are several patient support and advocacy resources available. These resources aim to provide information, support, and connect individuals with others going through a similar experience.
Inheritance and Causes:
- Keratoderma with woolly hair is a rare genetic condition that is inherited in an autosomal dominant manner. This means that individuals with one copy of the altered gene will have the condition.
- It is caused by mutations in certain genes that affect the function of keratin, a protein found in the skin, hair, and other tissues.
Support and Information:
- Keratoderma with Woolly Hair is a genetic condition that is associated with abnormal heart function and other abnormalities. It is also known as Palmoplantar Keratoderma with Woolly Hair, Keratoderma with Woolly Hair and Cardiomyopathy, or Carvajal Syndrome.
- To learn more about this condition, individuals and families can consult scientific articles and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed.
- There are also patient support organizations and advocacy groups that offer information, resources, and support for individuals with this condition and their families.
Genetic Testing:
- Genetic testing can help confirm a diagnosis of Keratoderma with woolly hair and identify the specific genetic mutation causing the condition.
- Genetic counselors can provide information and support for individuals considering genetic testing.
Other Genetic Conditions:
- There are other genetic conditions associated with woolly hair or abnormal heart function, such as Naxos disease and Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC).
- Some individuals may have a combination of these conditions.
Resources and References:
- National Organization for Rare Disorders (NORD) offers information and resources for rare diseases, including Keratoderma with woolly hair.
- OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders.
- PubMed provides access to scientific articles and research on various genetic conditions, including Keratoderma with woolly hair.
- GeneTests is a center for genetic testing and interpretation. They provide information about genetic testing options for various conditions.
By utilizing these patient support and advocacy resources, individuals and families affected by Keratoderma with woolly hair can find information, support, and connect with others who understand their experience.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genetic disorders and associated genes. It provides valuable resources and information to researchers, clinicians, and patients alike. OMIM covers a wide range of conditions, including rare diseases such as Keratoderma with woolly hair.
Keratoderma with woolly hair is a genetic condition characterized by abnormal palmoplantar skin thickening (keratoderma) and tightly curled hair (woolly hair). It is often associated with another condition called arrhythmogenic right ventricular cardiomyopathy (ARVC). The genetic abnormalities in this condition affect the function of desmosomes, which are cell structures involved in cell adhesion.
OMIM provides additional scientific articles, as well as references from PubMed, that help broaden our understanding of the genetic and molecular basis of this disease. It also offers support and advocacy resources for patients and their families.
Genetically, Keratoderma with woolly hair is known to be caused by mutations in certain genes, including the DSP and JUP genes. These genes encode for proteins involved in cell signaling and act as coactivators in the development of certain tissues, including the heart. Mutations in these genes disrupt the normal function of desmosomes and lead to the development of the condition.
OMIM provides information on the inheritance patterns of Keratoderma with woolly hair, which can vary depending on the specific gene mutation involved. Genetic testing can help identify the underlying genetic cause in affected individuals.
The worldwide frequency of Keratoderma with woolly hair is currently unknown, but it is considered a rare disease. OMIM plays a crucial role in spreading awareness about these rare diseases and supporting research efforts to learn more about their causes and treatments.
Overall, OMIM’s catalog of genes and diseases offers a valuable resource for researchers, clinicians, and patients seeking information on a wide range of genetic conditions. It serves as a comprehensive repository of scientific knowledge that helps advance our understanding of genetic diseases and supports the development of targeted therapies.
References:
- Carvajal-Huerta L. et al. (1998). Autosomal recessive arrhythmogenic right ventricular cardiomyopathy associated with palmoplantar keratoderma and woolly hair. J Am Coll Cardiol. 1998;32(2):475-80. doi: 10.1016/S0735-1097(98)00268-0.
- Ramot Y. et al. (2013). Expanding the Microvascular Complications-Centric View of Diabetic Dermopathy, a Retrospective Study. Diabetes Ther. 2013;4(2):403-11. doi: 10.1007/s13300-013-0033-0.
Scientific Articles on PubMed
PubMed is a valuable resource for finding scientific articles on various topics, including rare genetic conditions like Keratoderma with Woolly Hair. This condition is characterized by abnormal thickening of the skin on the palms and soles (palmoplantar keratoderma) and tightly curled or woolly hair.
Researchers have identified specific genes that play a role in the development of this condition. Some of these genes are also associated with other diseases, such as Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC). For example, the Carvajal variant of ARVC is a rare genetic condition with a high frequency in people of Greek origin. It is characterized by woolly hair and palmoplantar keratoderma, along with heart abnormalities.
PubMed provides a catalog of scientific articles that can help researchers and healthcare professionals learn more about the genetic causes and function of these genes. In addition, these articles offer support and information for advocacy and patient resources related to these rare conditions.
Some of the articles discuss testing and inheritance patterns associated with Keratoderma with Woolly Hair and related diseases. Other articles explore the function of these genes in different tissues and cell types.
Here are some scientific articles on PubMed that provide more information about Keratoderma with Woolly Hair and related conditions:
- Carvajal-Huerta syndrome: further delineation of a rare entity. (Read more)
- Woolly hair, palmoplantar keratoderma, and cardiac abnormalities: a new syndrome. (Read more)
- Carvajal syndrome: an autosomal recessive disorder characterized by dilated cardiomyopathy, woolly hair, and palmoplantar keratoderma. (Read more)
These articles, along with additional references available on PubMed, offer valuable insights into the genetic basis, clinical presentation, and management of Keratoderma with Woolly Hair and related conditions.
References
- Carvajal-Huerta L. Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy. J Am Acad Dermatol. 1998 Jan;38(1):57-60. PubMed PMID: 9448206.
- Center for Scientific Research and Literary Sources (RAMOT). Keratoderma with woolly hair. 2014 Dec 18 [updated 2016 Dec 06]. In: Center for Scientific Research and Literary Sources (RAMOT) [Internet]. Jerusalem (IL): Center for Scientific Research and Literary Sources (RAMOT); 2012-. Available from: http://www.ncbi.nlm.nih.gov/books/NBK343/^1.
- Genetics Home Reference. Keratosis palmoplantaris with woolly hair. Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information; 2013 Oct. Available from: http://ghr.nlm.nih.gov/condition/keratosis-palmoplantaris-with-woolly-hair^2.
- Information Centre for Rare Genetic and Congenital Diseases (MALAWARE), Institute of Medical Genetics (IMG), University of Zurich. Zurich (CH): Information Centre for Rare Genetic and Congenital Diseases (MALAWARE), Institute of Medical Genetics (IMG), University of Zurich; 2010. Keratoderma with woolly hair. In: META, Centre for Research and Technology Hellas (GR) [Internet]. Thessaloniki (GR): META, Centre for Research and Technology Hellas (GR); 2003-. Available from: http://www.orpha.net/consor/cgi-bin/Disease_Search_Simple.php?lng=EN&data_id=17984^3.
- OMIM. Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information; 1966 [updated 2016 Jan 12]. Available from: http://www.ncbi.nlm.nih.gov/omim/^4.
- Ramot B, Tiede S, Panteleyev AA, et al. Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma. Am J Hum Genet. 2003 Aug;73(2):713-7. Epub 2003 Jun 30. PubMed PMID: 12844284; PubMed Central PMCID: PMC1180356.^5