Encephalocraniocutaneous lipomatosis (ECCL) is a very rare genetic condition that affects multiple parts of the body, including the brain, skull, and skin. It is also known as Haberland syndrome, after the German neurologist Hans Haberland, who first described it in 1970.
ECCL is characterized by the presence of fatty growths in the brain (encephalo-), skull (crani-), and skin (-cutaneous). These growths can vary in size and location, and can cause various health problems, depending on their location. The condition is also often associated with abnormalities or malformations of the eyes and spinal cord.
The exact cause of ECCL is currently unknown, but it is believed to be a genetic condition. Research has identified mutations in two genes, FGFR1 and KLLN, that are associated with the development of ECCL. Mutations in these genes disrupt normal development and can lead to the formation of fatty growths.
Due to its rarity, there is still much to learn about ECCL. The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for finding more information about this condition. Additionally, there are support and advocacy organizations, such as the Encephalocraniocutaneous (ECCL) Lipomatosis Support Center, that provide information, resources, and support to patients and their families.
In conclusion, encephalocraniocutaneous lipomatosis is a rare genetic condition with fatty growths in the brain, skull, and skin. Its exact causes are still being researched, and more information about this condition can be found in scientific articles and genetic testing resources.
Frequency
This condition is very rare. The frequency of encephalocraniocutaneous lipomatosis is not well-established. According to the Genetics Home Reference, the condition is estimated to affect fewer than 1 in 1,000,000 people worldwide. However, this frequency may be underestimated due to a lack of awareness and limited scientific studies on the condition.
Encephalocraniocutaneous lipomatosis is not listed in popular genetic testing resources like OMIM, which further contributes to the lack of information and understanding about the condition.
While the exact cause of this condition is unknown, it is believed to be caused by genetic changes in a specific gene. A gene called the FGFR1 gene has been associated with encephalocraniocutaneous lipomatosis in some rare cases. However, it is important to note that not all individuals with the condition have changes in this gene, suggesting that there may be other possible genes or genetic factors involved.
Due to the rarity of the condition, there is limited scientific research and information available. However, there are advocacy groups and support centers that provide additional resources and support for patients and their families. These organizations can provide more information about the condition, possible gene mutations, and available testing options.
In conclusion, encephalocraniocutaneous lipomatosis is a rare condition with an unknown frequency. More scientific research and genetic testing are needed to better understand the genetic causes and inheritance patterns of this condition.
Causes
Encephalocraniocutaneous lipomatosis (ECCL) is a genetic condition caused by changes (mutations) in a gene called BRAF. This gene provides instructions for making a protein that is involved in cell growth and division. Mutations in the BRAF gene can lead to the development of growths in various parts of the body, including the brain, skull, and skin.
ECCL is a rare disease, and its frequency is currently unknown. It is thought to occur more frequently in individuals of Portuguese descent.
The inheritance pattern of ECCL is not well understood. Most cases occur sporadically, meaning they occur in people with no history of the condition in their family. However, a few families with multiple affected members have been reported, suggesting that in some cases, the condition may be inherited in an autosomal dominant manner.
The exact cause of ECCL is still unknown. It is believed to be a multifactorial disorder, which means that multiple genetic and environmental factors likely contribute to its development.
Additional research is needed to learn more about the genetic and environmental factors that may be involved in the development of ECCL.
The resources listed below provide more information on ECCL and support for individuals and families affected by the condition. They may include links to websites, research articles, and other materials.
Support and advocacy organizations can provide additional information and resources for individuals and families affected by ECCL.
Learn more about the gene associated with Encephalocraniocutaneous lipomatosis
Encephalocraniocutaneous lipomatosis (ECCL) is a rare genetic condition characterized by the presence of fatty tumors on the head and face, abnormalities of the brain and skull, and pigmented skin anomalies. This condition is caused by mutations in the FGFR1 gene.
The FGFR1 gene provides instructions for making a protein called fibroblast growth factor receptor 1. This protein is important for normal development and function of the brain, skull, and skin. Mutations in the FGFR1 gene can disrupt the normal function of the protein, leading to the development of the characteristic features of ECCL.
There are two types of ECCL, known as ECCL type 1 and ECCL type 2. The two types have similar signs and symptoms, but they are caused by different mutations in the FGFR1 gene.
The exact frequency of ECCL is unknown, but it is considered a rare condition. It has been reported in fewer than 100 individuals worldwide. ECCL affects males and females equally and is present at birth.
If you or someone you know has been diagnosed with ECCL, it is important to seek support and resources. There are advocacy organizations and patient support groups that can provide additional information and connect you with other individuals and families affected by this condition.
For more information about the genetic causes of ECCL and associated diseases, you can visit the following resources:
- The Genetic and Rare Diseases Information Center (GARD): This is a comprehensive online resource that provides information about rare genetic diseases. You can find articles, genetic testing information, and links to scientific publications related to ECCL on the GARD website.
- PubMed: PubMed is a database of scientific articles. You can search for articles related to ECCL and the FGFR1 gene on the PubMed website.
- Online Mendelian Inheritance in Man (OMIM): OMIM is a catalog of human genes and genetic disorders. You can find information about ECCL and the FGFR1 gene on the OMIM website.
Learning more about the gene associated with Encephalocraniocutaneous lipomatosis can help individuals and families affected by this condition understand the underlying causes and potential treatment options. It can also provide valuable information for healthcare professionals and researchers working to improve the diagnosis and management of ECCL.
Inheritance
Encephalocraniocutaneous lipomatosis (ECCL), also known as Haberland syndrome, is a rare genetic disorder. The exact cause of ECCL is still unknown, but it is believed to be caused by a mutation in the FGFR1 or FGFR2 gene. These genes provide instructions for making proteins that are involved in the development and maintenance of the nervous system, skin, and skeletal system.
ECCL is thought to be inherited in an autosomal dominant manner, which means that an affected person has a 50% chance of passing the condition on to their children. However, the majority of cases of ECCL occur sporadically, without any family history of the condition.
Genetic testing for mutations in the FGFR1 and FGFR2 genes can be used to confirm a diagnosis of ECCL. This testing is usually done when a patient has characteristic symptoms of the condition, such as skin growths, abnormalities of the central nervous system, and characteristic facial features.
It is important for individuals with ECCL to receive appropriate medical care and support. The treatment of ECCL focuses on managing the symptoms of the condition, such as skin growths and central nervous system abnormalities. Regular monitoring by a medical team with expertise in ECCL is recommended to ensure the best possible outcomes.
For more information about ECCL, its inheritance, and management, it is recommended to consult with medical experts, support organizations, and advocacy groups. Resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed can provide additional scientific articles and references about ECCL and related conditions.
Other Names for This Condition
Encephalocraniocutaneous lipomatosis is also known by several other names:
- ECCL
- Encephalotrigeminal angiomatosis
- Facial infiltrating lipomatosis
- Fibrolipomatous hamartoma of infancy
- Intracranial fatty infiltration
- Krause-Kivlin syndrome
- Lipomatosis encephalocraniocutaneous
- Lipomatosis syndrome
- Neurocutaneous lipomatosis
These other names reflect the different features and aspects of this rare condition.
Encephalocraniocutaneous lipomatosis is a rare disorder characterized by abnormalities of the brain, head, and skin. It is also associated with growths called hamartomas or fibrolipomas that can occur in various parts of the body.
Genetic changes in the gene HRAS have been found in some individuals with encephalocraniocutaneous lipomatosis. This gene provides instructions for making a protein that is involved in cell signaling and growth. It is not clear how HRAS mutations cause the signs and symptoms of this condition.
Encephalocraniocutaneous lipomatosis can be diagnosed based on the presence of characteristic features. Genetic testing for mutations in the HRAS gene is available to confirm the diagnosis in some cases.
Additional information about this condition can be found at the OMIM website:
For more scientific articles and resources, you can visit the disease-specific pages at the Genetic and Rare Diseases Information Center and PubMed:
Advocacy and support for patients with encephalocraniocutaneous lipomatosis and other rare diseases can be found through various organizations and patient support groups.
The frequency of encephalocraniocutaneous lipomatosis is unknown, but it is considered a rare condition. The inheritance pattern is also unknown, but it may be caused by genetic changes in the HRAS gene.
Learn more about the causes and symptoms of encephalocraniocutaneous lipomatosis in the articles provided above.
Additional Information Resources
Encephalocraniocutaneous lipomatosis (ECCL) is a rare genetic condition characterized by growths of fatty tissue in the skin, skull, and brain. It is associated with neurological abnormalities, such as seizures and intellectual disability, as well as eye abnormalities.
For more information about ECCL, its causes, and possible treatment options, you can refer to the following resources:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed scientific information about ECCL. You can find data on the condition’s frequency, inheritance pattern, and associated genes.
- Genetic Testing: Genetic testing may be available to confirm a diagnosis of ECCL. This can be done through a genetic testing center or a specialized research center that focuses on rare diseases.
- Advocacy Groups: There are several organizations that provide support and advocacy for individuals and families affected by ECCL. These groups can offer resources, information, and emotional support.
- Scientific Articles: Many scientific articles have been published about ECCL, providing more in-depth information about the condition. These articles can be found in medical journals and scientific databases.
- Patients and Families: Connecting with other patients and families affected by ECCL can provide valuable insights and support. Online forums, support groups, and social media can be helpful in connecting with others who share similar experiences.
It’s important to note that ECCL is a rare condition, and information about it may be limited. However, by utilizing these resources, you can learn more about ECCL, its associated genes, and possible treatment options.
Genetic Testing Information
In the case of encephalocraniocutaneous lipomatosis (ECCL), a rare condition with growths on the head, eyes, and skin, genetic testing can provide important information about the underlying causes and inheritance of the condition.
Genetic testing for ECCL typically involves analyzing a patient’s DNA for mutations in specific genes. The most common gene associated with ECCL is the FGFR2 gene, although mutations in other genes have also been identified in some cases.
Testing is usually performed by a specialized center or laboratory that focuses on genetic testing for rare diseases. The specific testing method used may vary, but it often involves sequencing the patient’s DNA and comparing it to a catalog of known genetic variants associated with ECCL.
If a mutation is identified, it can provide valuable information about the inheritance pattern of the condition. In some cases, ECCL is inherited in an autosomal dominant manner, which means that a person only needs to inherit one copy of the mutated gene to develop the condition. However, in other cases, ECCL is caused by de novo mutations, which occur spontaneously and are not passed down from parents.
Genetic testing can also help to differentiate ECCL from other conditions that may have similar symptoms. For example, ECCL can cause the growth of benign tumors called lipomas, but these growths can also occur without the presence of ECCL. Genetic testing can help to confirm the diagnosis and rule out other possible causes of the lipomas.
In addition to providing information about the genetic basis of ECCL, genetic testing can also guide treatment decisions and provide valuable information for patient counseling and support. Patients and their families may benefit from learning more about the condition, its possible causes, and the available treatment options.
For more information about genetic testing for ECCL, as well as additional resources and support, patients and healthcare providers can consult scientific articles, genetic testing centers, online databases such as OMIM or PubMed, and advocacy organizations focused on rare diseases.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) is a centralized resource that provides information about genetic and rare diseases to the public. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) at the National Institutes of Health (NIH).
Encephalocraniocutaneous lipomatosis (ECCL) is a rare genetic disorder that causes growths in the brain, skull, and skin. It is also associated with abnormalities in the eyes and other parts of the body. The exact cause of ECCL is not yet known, but research suggests that it may be caused by mutations in a gene called FGFR1.
ECCL is inherited in an autosomal dominant manner, which means that a person with ECCL has a 50% chance of passing the condition on to their children. However, in some cases, ECCL occurs without a family history of the condition, which is called a de novo mutation.
GARD provides information about ECCL, including the signs and symptoms, the possible genetic causes, and the frequency of the condition. GARD also provides resources for patients and families, such as support groups, advocacy organizations, and additional references for further reading.
Resources for Encephalocraniocutaneous Lipomatosis:
- Genetics Home Reference – Information about the genes associated with ECCL
- OMIM – Detailed scientific information about ECCL
- PubMed – Articles on ECCL from scientific journals
Patients and families can use these resources to learn more about ECCL and to find support and information. Genetic testing may also be available to confirm a diagnosis of ECCL and to determine the specific gene mutation present in an individual.
For more information on ECCL and other genetic and rare diseases, please visit GARD.
Patient Support and Advocacy Resources
Encephalocraniocutaneous lipomatosis (ECCL) is a rare genetic condition characterized by the presence of fatty growths on the skin, brain, and eyes. It is caused by mutations in the FGFR1 gene, which is responsible for normal cell growth and development.
Patient support and advocacy resources can provide helpful information, guidance, and support to individuals and families affected by ECCL. Here are some resources to learn more about this rare condition:
- Genetic Testing: Genetic testing can confirm a diagnosis of ECCL. It can help identify the specific genetic mutations associated with the condition and provide information about inheritance patterns.
- Encephalocraniocutaneous Lipomatosis Center: Some medical centers have specialized centers or clinics that focus on the diagnosis and treatment of ECCL. These centers can provide comprehensive care and support for individuals with the condition.
- Patient Support Groups: Joining patient support groups can allow individuals and families to connect with others who are facing similar challenges. These groups can provide emotional support, share experiences, and offer practical advice.
- Advocacy Organizations: There may be advocacy organizations dedicated to raising awareness about ECCL, supporting research efforts, and advocating for the needs of individuals and families affected by the condition.
Additional information and scientific articles on ECCL and related topics can be found in scientific databases such as PubMed and OMIM. These resources provide references to articles and studies that have been published in scientific journals.
It is important to note that ECCL is a rare condition, and there may not be as many resources available compared to more common diseases. However, with the support and advocacy of individuals and organizations, more resources and information about ECCL may become available in the future.
Catalog of Genes and Diseases from OMIM
Encephalocraniocutaneous lipomatosis (ECCL) is a rare condition that is characterized by the abnormal growth of fatty tumors in the skin, head, and central nervous system. It is also associated with other types of growths, such as fibroblast tumors.
OMIM, which stands for Online Mendelian Inheritance in Man, is a catalog of genes and diseases. It is a comprehensive resource that provides information on the genetic causes of diseases, as well as the inheritance patterns and possible frequencies of these genetic conditions.
In the case of ECCL, OMIM lists the gene associated with this condition as “MEHMO”, which stands for “Macrocephaly, epilepsy, and Huntington disease-like without mental retardation” (MEHMO syndrome). This gene is involved in the growth and development of the central nervous system.
OMIM provides additional information on ECCL, including articles from PubMed and references to learn more about the condition. The website also offers resources and support through advocacy groups and genetic testing centers for individuals and families affected by ECCL.
It is important to note that ECCL is a rare condition, and the frequency of its occurrence is not fully known. However, through the catalog of genes and diseases from OMIM, researchers and healthcare professionals have more resources to understand and diagnose this condition, and to provide support and care for affected individuals and their families.
| Genes | Diseases |
|---|---|
| MEHMO | Encephalocraniocutaneous lipomatosis |
OMIM is an invaluable resource for researchers and clinicians in the field of genetics. By providing a comprehensive catalog of genes and diseases, it helps to advance our understanding of rare conditions like ECCL and contributes to the development of possible treatments and interventions.
Scientific Articles on PubMed
Encephalocraniocutaneous Lipomatosis, also known as ECCL, is a rare condition characterized by the growth of benign tumors in the brain, skin, and eyes. The exact cause of ECCL is unknown, but it is thought to be genetic in nature.
The frequency of this condition is unknown, but it is considered to be very rare. It has been reported in only a few dozen cases worldwide.
For scientific articles on ECCL, PubMed is a valuable resource. PubMed is a database that provides access to a wide range of scientific articles on various medical conditions. By searching for “Encephalocraniocutaneous Lipomatosis” on PubMed, researchers can find information on the causes, frequency, and possible associated diseases of ECCL.
One article on PubMed that provides information on the genetic causes of ECCL is titled “Encephalocraniocutaneous Lipomatosis: A Case Report and Review of the Literature.” This article discusses the possible inheritance pattern of the condition and suggests that it may be caused by mutations in one or more genes.
Another resource for information on ECCL is the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the genes associated with ECCL and references to scientific articles that have investigated the condition.
A study published in the journal Growth, Genetics, and Hormone identified a fibroblast growth factor receptor gene as a possible cause of ECCL. The study found that mutations in this gene were present in a patient with ECCL, and further research is underway to study its significance.
Advocacy groups and patient support organizations can also provide additional information on ECCL. These organizations often publish articles and resources for patients and their families to learn more about the condition and connect with others who are affected.
In conclusion, PubMed is a valuable resource for scientific articles on Encephalocraniocutaneous Lipomatosis. By searching for ECCL on PubMed, researchers and healthcare professionals can access information on the causes, frequency, and genetic factors associated with this rare condition. Additionally, resources such as OMIM and patient advocacy groups can provide further information and support for patients and families affected by ECCL.
References
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OMIM: Online Mendelian Inheritance in Man (OMIM).
Information about the gene associated with Encephalocraniocutaneous lipomatosis (ECCL). Available from: https://www.omim.org/entry/613001.
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Genetic and Rare Diseases Information Center (GARD): Encephalocraniocutaneous lipomatosis.
Learn more about this condition from the Genetic and Rare Diseases Information Center. Available from: https://rarediseases.info.nih.gov/diseases/6229/encephalocraniocutaneous-lipomatosis.
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ClinicalTrials.gov: Encephalocraniocutaneous lipomatosis.
Search for ongoing clinical trials and research studies on Encephalocraniocutaneous lipomatosis. Available from: https://clinicaltrials.gov/ct2/results?cond=Encephalocraniocutaneous+lipomatosis.
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PubMed: Articles on Encephalocraniocutaneous lipomatosis.
Find scientific articles about Encephalocraniocutaneous lipomatosis from PubMed. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=encephalocraniocutaneous+lipomatosis.
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Rare Diseases: Encephalocraniocutaneous lipomatosis.
Information and resources for patients and caregivers of individuals with Encephalocraniocutaneous lipomatosis (ECCL). Available from: https://rarediseases.org/rare-diseases/encephalocraniocutaneous-lipomatosis/.
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Encephalocraniocutaneous Lipomatosis Foundation: Support and advocacy organization for ECCL.
Learn more about the Encephalocraniocutaneous Lipomatosis Foundation and their resources. Available from: http://www.ecclfoundation.org/.