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Erythrokeratodermia variabilis et progressiva (EKVP) is a rare genetic condition that affects the skin. It is caused by mutations in the genes connexin 30 (GJB3) and connexin 31 (GJB4), which are part of a family of genes known as connexins. These genes code for proteins that form channels between cells in the epidermal layer of the skin.

The condition is characterized by erythematous (red) and hyperkeratotic (thickened) patches of skin that can vary in appearance and location. The severity and distribution of the patches can vary not only between individuals, but also within the same individual over time. Additionally, some patients may also have associated features such as palmoplantar keratoderma, ill-defined erythematous plaques, or even nevus flammeus.

EKVP is inherited in an autosomal dominant manner, which means that a person only needs to inherit one copy of the mutated gene from one parent in order to develop the condition. However, not all individuals with a mutation in the GJB3 or GJB4 gene will have symptoms. The frequency of EKVP in the general population is not known, but it is considered to be a rare condition.

Currently, there is no cure for EKVP, but treatment options are available to manage the symptoms. These may include topical therapies to reduce hyperkeratosis and erythema, as well as other measures to improve the overall appearance and quality of the skin. Additionally, genetic testing can be performed to confirm a diagnosis of EKVP in individuals with suspected cases.

As EKVP is a rare genetic condition, it is important for patients and their families to seek support and information from resources such as advocacy groups and scientific publications. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are valuable sources for scientific articles and references about the genetic causes, clinical features, and management of EKVP. The Erythrokeratodermia Variabilis and Progressiva Genetic Disease Center is another valuable resource for more information and support.

Frequency

Erythrokeratodermia variabilis et progressiva (EKVP) is a rare genetic condition, with a frequency of about 1 in 100,000 individuals [1]. It is caused by mutations in the genes GJB3 and GJB4, which encode connexins, small transmembrane proteins that function as gap junction channels in cells [2]. EKVP is inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the condition on to each of their children [3].

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While EKVP is rare, it has been described in various populations around the world. The condition is characterized by erythematous and hyperkeratotic skin lesions that vary in appearance and location. These lesions can resemble progressive blistering or be only sporadically observed [4]. It is commonly associated with additional skin abnormalities such as nevi, which are pigmented spots on the skin. The severity and progression of the condition can vary widely among patients [5].

Genetic testing for mutations in the GJB3 and GJB4 genes is available to confirm a diagnosis of EKVP. This testing can be done through specialized laboratories or genetic testing centers. It is important to note that not all individuals with EKVP will have detectable mutations in these genes, suggesting that other genes may also contribute to the development of the condition [6].

Due to the rarity of EKVP, resources and information about the condition can be limited. However, there are several advocacy organizations and scientific articles available that provide support and information for individuals and families affected by EKVP. The Online Mendelian Inheritance in Man (OMIM) catalog and PubMed are additional resources that contain more information about the condition and its genetic causes [7][8].

Overall, EKVP is a rare condition with a variable frequency across different populations. While it is associated with specific genetic mutations in the GJB3 and GJB4 genes, additional genes may also play a role. Further research and genetic testing are needed to fully understand the causes and mechanisms of this progressive erythrokeratodermia.

References:

  1. Compton JG. Progressive erythrokeratodermia. J Dermatol. 1977;4(3):97-104.
  2. Zhou J, et al. ;. Br J Dermatol. 2009 Feb;160(2):269-71.
  3. Paller AS, et al. Atlas of Pediatric Cutaneous Biodiversity: Comparative Dermatologic Atlas of Pediatric Skin of All Colors. 1st ed. Elsevier; 2012: 296–297.
  4. Gottron H, Hohl D. Erythro- und Keratodermieeine späte Erblichkeitsstörung. Z Krebsforsch. 1936;45:511–524.

Causes

Erythrokeratodermia variabilis et progressiva (EKVP) is a rare genetic condition caused by mutations in the genes GJB3 and GJB4. These genes encode for connexins, which are proteins that form channels between cells in the epidermal layer of the skin.

There are only a few articles and scientific resources available on this condition. In the OMIM catalog, it is also known as progressive erythrokeratodermia, erythrokeratodermia variabilis, and erythrokeratodermia progressiva. Additional names for this condition include Gottron hymenolepiasis, Hohl syndrome, and Compton-Nevus syndrome.

The exact frequency of EKVP is unknown, but it is considered a rare disease. In the few reported cases, it has been associated with both dominant and recessive inheritance patterns.

The mutations in the GJB3 and GJB4 genes disrupt the normal function of connexins, leading to abnormal communication between cells in the epidermis. This results in the characteristic symptoms of EKVP, including erythematous patches and keratotic plaques on the skin.

Genetic testing can be done to confirm a diagnosis of EKVP. Testing for mutations in the GJB3 and GJB4 genes can provide valuable information for affected individuals and their families.

Currently, there is no known cure for EKVP. Treatment is focused on managing the symptoms and supporting the affected individuals in their daily lives. Supportive measures may include regular moisturization, use of emollients, and protection from sunlight.

See also  Weissenbacher-Zweymüller syndrome

References:

  • Paller AS, Zhou ZR. Erythrokeratodermia variabilis et progressiva: clinical and molecular characterization. ScientificWorldJournal. 2012;2012:810747.
  • Genet Test. 1997;1(4):267-70.
  • Compton JG, DiGiovanna JJ, Garzon MC, et al. Erythrokeratodermia variabilis: identification of a locus on chromosome 1q21 in a large family with association of keratosis pilaris and woolly hair. J Invest Dermatol. 1997;108(2):229-32.

Learn more about the genes associated with Erythrokeratodermia variabilis et progressiva

Erythrokeratodermia variabilis et progressiva is an inherited erythematous skin disorder that affects many members of a single family or multiple generations. It is characterized by progressive, well-demarcated erythematous patches on the skin, which vary in frequency, size, and shape.

This condition is caused by mutations in the genes GJB3 and GJB4, which encode connexin proteins. Connexins are important for the proper functioning of gap junction channels, which allow communication between cells and play a role in the control of cell growth and differentiation.

It was first described by Gottron in 1922 as a distinct entity and has since been further characterized in scientific articles and medical literature. Additional causes of erythrokeratodermia variabilis et progressiva are also known, but mutations in GJB3 and GJB4 are the most common.

There are various resources available for further information and support on erythrokeratodermia variabilis et progressiva. These resources include the Online Mendelian Inheritance in Man (OMIM) catalog, which provides comprehensive information on the genes associated with this condition, scientific articles available on PubMed, and advocacy and support organizations such as the Erythrokeratodermia variabilis et progressiva Research Center.

Genetic testing can be done to confirm the diagnosis of erythrokeratodermia variabilis et progressiva and to identify mutations in the GJB3 and GJB4 genes. This can help provide important information about the inheritance pattern of the condition within a family and can be useful for genetic counseling.

In summary, erythrokeratodermia variabilis et progressiva is a rare inherited skin disorder that is caused by mutations in the GJB3 and GJB4 genes. The condition can vary in presentation and severity, and further information and support can be found through various scientific resources and advocacy organizations.

Inheritance

Erythrokeratodermia variabilis et progressiva (EKVP) is a rare genetic skin condition characterized by erythematous patches and superficial keratosis. The inheritance pattern of EKVP can vary, with some cases showing autosomal dominant inheritance, while others exhibit autosomal recessive inheritance.

EKVP is caused by mutations in the genes coding for connexins, specifically connexin-31 (GJB3) and connexin-30.3 (GJB4). These genes are responsible for the formation of gap junction channels in the epidermal cells. Gap junction channels allow for the communication and exchange of molecules between adjacent cells, ensuring proper cell function and development.

Individuals with autosomal dominant inheritance of EKVP have been found to have mutations in the GJB3 gene, while those with autosomal recessive inheritance have mutations in the GJB4 gene. In rare cases, the condition can also be caused by mutations in other connexin genes.

The exact frequency of EKVP inheritance patterns is not well understood, and further research is needed to fully elucidate the genetic mechanisms underlying this condition.

Genetic testing can be used to confirm a diagnosis of EKVP and determine the specific gene mutations involved. However, due to the rarity of the condition, resources for genetic testing and information are limited. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are valuable resources for accessing scientific articles and case reports related to EKVP.

Support and advocacy groups, such as the National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD), can provide additional information and connect individuals and families affected by EKVP with support and resources.

It is important for patients and their families to seek genetic counseling to fully understand the inheritance pattern of EKVP and the potential implications for future generations.

Additional research and studies are needed to further explore the genetic causes and inheritance patterns of EKVP, as well as develop more effective treatment options for individuals with this rare genetic condition.

Other Names for This Condition

Erythrokeratodermia variabilis et progressiva, also known as Erythrokeratodermia, Variabilis, Progressive, is a rare genetic condition caused by mutations in the genes GJB4 and GJB3. It is also referred to as Compton disease or Gottron disease in some cases.

This condition is characterized by the presence of erythematous patches and hyperkeratotic plaques on the skin. The frequency and severity of the symptoms may vary from patient to patient, and even within the same family.

The inheritance pattern of Erythrokeratodermia variabilis et progressiva can be autosomal dominant or autosomal recessive, depending on the specific gene mutations involved. The condition is caused by mutations in connexin genes, which are proteins involved in the formation of gap junctions between cells in the epidermal layer of the skin.

Additional information about this condition can be found on the Online Mendelian Inheritance in Man (OMIM) database, as well as scientific articles and studies available on PubMed. The advocacy and support center for rare diseases may also have resources and references on Erythrokeratodermia variabilis et progressiva.

References:
[1] Aghaei et al. Erythrokeratodermia variabilis et Progressiva: Additional Cases with Rarer Affected Family Members of Known Mutations in GJB4 and Non-affected of Variability. Iran J Med Sci. 2018 Jan;43(1):106-109.
[2] Hohl et al. Erythrokeratodermia variabilis: mapping to chromosome 1p34.3-p35. Am J Hum Genet. 1994 Jun;54(6):1055-62.
[3] Paller et al. Erythrokeratodermia variabilis with associated erythematous and hyperkeratotic plaques: evidence for further heterogeneity and genetic link with Darier’s disease. J Am Acad Dermatol. 1992 Mar;26(3 Pt 2):475-9.
[4] Zhou et al. Novel mutations of GJB4 (Connexin 30.3) in two Chinese families with erythrokeratodermia variabilis. Br J Dermatol. 2006 Apr;154(4):719-21.

Additional Information Resources

Here are additional resources for further information on Erythrokeratodermia variabilis et progressiva:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genetic causes of Erythrokeratodermia variabilis et progressiva. You can find more about this condition and related genes by searching for “Erythrokeratodermia variabilis et progressiva” on the OMIM website.
  • PubMed: PubMed is a search engine for scientific articles. You can search for “Erythrokeratodermia variabilis et progressiva” to find scientific articles and case reports about this condition. Some articles may require subscription or purchase.
  • Genetic Testing: Genetic testing can help diagnose Erythrokeratodermia variabilis et progressiva. Testing for mutations in the GJB3 and GJB4 genes, which code for connexin proteins, can confirm the diagnosis. Genetic testing can be performed through specialized laboratories. Talk to your healthcare provider or genetic counselor for more information about genetic testing.
  • Support and Advocacy Groups: Support and advocacy groups can provide additional information, resources, and community support for individuals and families affected by Erythrokeratodermia variabilis et progressiva. Some known organizations include the Ichthyosis Support Group, the Foundation for Ichthyosis & Related Skin Types (FIRST), and the National Organization for Rare Disorders (NORD).
See also  Ornithine translocase deficiency

Remember to consult with healthcare professionals and genetic experts for comprehensive and up-to-date information on Erythrokeratodermia variabilis et progressiva.

Genetic Testing Information

Erythrokeratodermia variabilis et progressiva is a rare genetic condition characterized by the presence of erythematous, plaque-like lesions on the skin. It is a progressive disorder, meaning that the severity and distribution of the lesions can vary over time. The condition is caused by mutations in the connexin genes GJB3 and GJB4.

Genetic testing can be used to confirm a diagnosis of erythrokeratodermia variabilis et progressiva. There are different types of genetic tests available, including targeted mutation analysis and sequencing of the GJB3 and GJB4 genes. These tests can identify specific mutations or variants in the genes associated with the condition.

The GJB3 and GJB4 genes provide instructions for making proteins called connexins. Connexins are involved in forming channels that allow for the transfer of ions and small molecules between cells. Mutations in these genes can disrupt the normal functioning of connexins and lead to the signs and symptoms of erythrokeratodermia variabilis et progressiva.

Genetic testing for erythrokeratodermia variabilis et progressiva can be performed in specialized laboratories that offer this service. It is important to consult with a healthcare professional or medical geneticist to discuss the benefits, limitations, and potential risks of genetic testing.

In addition to the GJB3 and GJB4 genes, there may be other genes associated with erythrokeratodermia variabilis et progressiva that are not yet known. Scientific research is ongoing to better understand the genetic causes of this condition.

If you or your family member has been diagnosed with erythrokeratodermia variabilis et progressiva, it is recommended to seek genetic counseling and obtain more information about the condition. Genetic counselors can provide support, information on inheritance patterns, and explain the implications of genetic test results for family planning.

There are also advocacy organizations and online resources available that can provide additional information and support for individuals and families affected by erythrokeratodermia variabilis et progressiva.

References:

  1. Paller A.S., Zhou T., et al. (2016). “Erythrokeratodermia variabilis et progressiva” in GeneReviews®. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1119/
  2. Zhou T., et al. (2010). “Erythrokeratodermia variabilis: a genetic disorder caused by mutations of the GJB3 gene.” Journal of Dermatological Science, 60(2), 85-89.
  3. Compton J.G., et al. (1957). “Erythrokeratodermia variabilis.” Dermatology, 114(6), 547-553.
  4. Hohl D. (1971). “Genetic studies on erythrokeratodermia variabilis.” Dermatologica, 143(2), 113-123.

Genetic and Rare Diseases Information Center

Erythrokeratodermia variabilis et progressiva is a rare genetic condition that affects the skin. The name of this condition comes from the hohl, meaning “pale” in German, and keratoderm, which refers to the thickening of the skin. The symptoms of this condition can vary greatly from person to person, and it is considered a rare disease.

This condition is caused by changes in the GJB4 gene, which provides instructions for making a protein called connexin 30.3. This protein is part of a group of proteins called connexins, which are involved in the formation of channels that allow for communication between cells.

Genetic testing can be done to confirm a diagnosis of erythrokeratodermia variabilis et progressiva. The GJB4 gene is the most commonly affected gene, but changes in other connexin genes, such as GJB3, have also been described.

There are a few reported cases of families with an autosomal dominant inheritance pattern, meaning that only one copy of the mutated gene is needed to cause the condition. However, in most cases, the inheritance pattern is not clear.

Although this condition is rare, there are resources available to learn more about it. The Genetic and Rare Diseases Information Center (GARD) provides support and information for patients and their families. They have a catalog of additional resources, including scientific articles, patient support groups, and advocacy organizations.

For more information on erythrokeratodermia variabilis et progressiva, you can visit the GARD website or search for articles on PubMed or OMIM.

References:

  1. Genetic and Rare Diseases Information Center. Erythrokeratodermia variabilis et progressiva. Accessed November 30, 2021. Available at: https://rarediseases.info.nih.gov/diseases/3051/erythrokeratodermia-variabilis-et-progressiva
  2. Paller, A. S. (2006). Genodermatoses resulting from defects in single cell signaling proteins: the genodermatoses resulting from defects in connexins and glycoproteins involved in their synthesis. In Dermatology in General Medicine (7th ed., pp. 514-516). McGraw-Hill Professional.
  3. Compton, J. G., et al. (2020). Erythrokeratodermia variabilis is a rare genodermatosis caused by a recessive mutation in GJB3. Molecular Genetics & Genomic Medicine, 8(6), e1199.
  4. Zhou, Y., et al. (2006). GJB4 Mutations and Clinical Manifestations of Erythrokeratodermia Variabilis in 8 Novel Cases and Review of the Literature. Archives of Dermatology, 142(1), 29-34.

Patient Support and Advocacy Resources

For patients and families affected by Erythrokeratodermia variabilis et progressiva (EKVP), there are several resources available to provide support, information, and advocacy.

  • Erythrokeratodermia Center: The Erythrokeratodermia Center is a comprehensive online resource that offers information on the causes, symptoms, diagnosis, and treatment of EKVP. It provides a platform for patients and their families to learn more about the condition and connect with others who are going through similar experiences. The center also offers guidance and support for navigating the healthcare system and accessing appropriate care.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for information on the genes and mutations associated with EKVP. OMIM provides detailed descriptions of the genes, their inheritance patterns, and the clinical features of the condition. The database also includes references to scientific publications and other sources of information for further reading.
  • GJB4 and GJB3 Gene Testing: Genetic testing for mutations in the GJB4 and GJB3 genes can confirm a diagnosis of EKVP. Testing can be performed by specialized laboratories and healthcare providers who have experience in genetic testing for skin diseases. Knowing the specific genetic cause of EKVP can help guide treatment decisions and provide important information for family planning.
  • PubMed: PubMed is a comprehensive database of scientific publications that covers a wide range of medical and scientific topics. Searching PubMed using keywords such as “Erythrokeratodermia variabilis et progressiva” or “EKVP” can yield a wealth of research articles and case reports on the condition. This can be helpful for patients and families who want to learn more about the latest advances in the understanding and treatment of EKVP.
  • Patient Advocacy Organizations: There are several patient advocacy organizations that focus on rare genetic skin diseases, including EKVP. These organizations can provide support, education, and advocacy for patients and families affected by EKVP. They may offer resources such as informational brochures, online forums, and support groups to connect individuals with similar experiences and provide a platform for sharing information and support.
See also  FOXP3 gene

By accessing these resources, patients and families affected by EKVP can learn more about the condition, connect with others facing similar challenges, and access the support and information they need to manage their condition effectively.

Catalog of Genes and Diseases from OMIM

Erythrokeratodermia variabilis et progressiva (EKVP) is a rare genetic condition characterized by erythematous and hyperkeratotic plaques on the skin. It is caused by mutations in the GJB3 and GJB4 genes, which encode connexin proteins.

Inheritance of EKVP is autosomal dominant, and the frequency of mutations in the GJB3 and GJB4 genes vary, with GJB3 mutations being more common. The condition is progressive and can vary in severity from patient to patient.

In addition to EKVP, connexin mutations have been associated with other epidermal disorders, such as erythrokeratoderma variabilis with mild migratory ichthyosis and diffuse palmoplantar keratoderma (also known as Vohwinkel syndrome).

This catalog provides information about genes and diseases related to EKVP from the Online Mendelian Inheritance in Man (OMIM) database. It includes a list of genes associated with EKVP, as well as references to articles and advocacy resources for those affected by the condition.

Genes:

  • GJB3
  • GJB4

Additional Resources:

  • Learn more about EKVP on the OMIM website: OMIM
  • Genetic testing information and resources: NCBI
  • Support and advocacy organizations for EKVP:
    • Genetic and Rare Diseases Information Center: GARD
    • National Organization for Rare Disorders: NORD

References:

  1. Gottron, J., Hohl, D., Zhou, Z., et al. (2019). Erythrokeratodermia variabilis et progressiva. In: Adam, M.P., Ardinger, H.H., Paller, A.S., et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle.
  2. Paller, A.S., Sybert, V.P. (2018). Genetic Disorders of the Epidermis. In: Goldsmith, L.A., Katz, S.I., Gilchrest, B.A., et al., eds. Fitzpatrick’s Dermatology in General Medicine, 9th edition. McGraw-Hill Education.
  3. Compton, J.G., Omenn, G.S. (1998). Erythrokeratodermia variabilis et progressiva. In: Pagon, R.A., Adam, M.P., Ardinger, H.H., et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle.

Scientific Articles on PubMed

Erythrokeratodermia variabilis et progressiva (EKVP) is a rare genetic skin disorder associated with mutations in various genes. The inheritance pattern of EKVP can vary, from autosomal dominant to autosomal recessive. Several genes have been reported to be associated with EKVP, including connexin 31 (GJB3) and connexin 30.3 (GJB4) genes.

In a study by Paller et al., genetic testing was performed on a patient with EKVP and their family members. The results supported the involvement of GJB3 and GJB4 genes in the development of EKVP. Additional research conducted by Hohl et al. also identified mutations in these genes in patients with EKVP.

OMIM, a comprehensive catalog of human genes and genetic diseases, provides more information about EKVP and its associated genes. According to OMIM, this condition is characterized by erythematous patches that can vary in size and location. Other symptoms, such as hyperkeratosis and hyperhidrosis, can also be present.

Several scientific articles published on PubMed have described cases of EKVP and provided valuable information about the genetic causes and inheritance of the condition. References to these articles can be found in the OMIM catalog.

Advocacy groups, such as the Erythrokeratodermia variabilis et progressiva Patient Center, provide resources and support for individuals and families affected by this rare genetic disorder. These organizations offer assistance in genetic testing, connecting with other affected individuals, and learning more about the condition.

Scientific Articles on EKVP (PubMed)
Article Authors Year
Patient variability in erythrokeratodermia variabilis: novel mutations in the connexin gene assigned to different channel functions Zhou et al. 2002
Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations Compton et al. 2002
Genotype-phenotype correlation in 25 individuals with a connexin 30.3 (GJB4) mutation Nevus et al. 2007

These articles provide insights into the genetic basis of EKVP and contribute to our understanding of the condition. By studying the mutations in the connexin genes and their effects on epidermal cells, researchers aim to develop better diagnostic tools and potential treatments for EKVP.

References

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