Buschke-Ollendorff syndrome (BOS), also called lenticularis disseminata, is a rare genetic condition that affects the skin and bones. It was first described by Wordsworth in 1962 and later named after Buschke and Ollendorff, who reported additional cases of the condition. BOS is characterized by the presence of connective tissue nevi and increased bone density.

Patients with BOS may have multiple skin nevi, which are small, benign tumors that occur on the skin. These nevi are composed of excess collagen, a protein that provides support for the tissues. Additionally, affected individuals may have increased bone density, particularly in the long bones of the arms and legs.

The exact frequency of BOS is unknown, but it is considered to be a rare condition. Most cases have been reported in scientific articles and through resources such as the Online Mendelian Inheritance in Man (OMIM) catalog. Due to its rarity, there is limited information available about the causes and inheritance of BOS.

Genetic testing may be used to confirm a diagnosis of BOS. The testing can identify mutations in the genes associated with the condition. However, more research is needed to understand the exact genes involved in BOS development. With additional testing and research, scientists hope to learn more about the novel genes and mechanisms underlying this condition.

There are no specific treatments for BOS, as it is a rare and genetic condition. However, medical management may be necessary to address any complications that arise. Close monitoring and regular check-ups are also recommended to ensure optimal care for BOS patients.

In conclusion, Buschke-Ollendorff syndrome is a rare genetic condition that affects the skin and bones. It is characterized by the presence of connective tissue nevi and increased bone density. Genetic testing can aid in diagnosis, but there is currently limited information about the causes and inheritance of the condition. Further research is needed to better understand this rare syndrome and develop treatments to support affected individuals.

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Frequency

The Buschke-Ollendorff syndrome is a very rare genetic condition that affects bones and skin. It is associated with mutations in the LEMD3 gene. The exact frequency of this syndrome is unknown, but it is estimated to occur in less than 1 in 1 million people.

Most cases of Buschke-Ollendorff syndrome are diagnosed in childhood, but some individuals may not show symptoms until adulthood. The condition is often characterized by the presence of nevi, which are small, benign skin tumors. These nevi can also be found in other rare conditions such as osteopoikilosis and lenticularis.

Diagnosis of Buschke-Ollendorff syndrome can be done through genetic testing, which can detect mutations in the LEMD3 gene. This testing can be done in specialized genetic testing centers.

The exact causes of Buschke-Ollendorff syndrome are not fully understood. It is believed to be inherited in an autosomal dominant manner, which means that only one copy of the mutated gene is needed to develop the condition. However, some cases have been reported to occur sporadically, without a family history of the syndrome.

More research is needed to learn about the frequency and inheritance of Buschke-Ollendorff syndrome. Additional genes and mutations may be associated with the condition. Scientific articles and references can provide more information on this topic.

Advocacy and support groups can also provide resources and information for patients and their families affected by Buschke-Ollendorff syndrome. These resources can help individuals learn about the condition, find support, and connect with others who have similar experiences.

Causes

Buschke-Ollendorff syndrome is a rare condition, with an estimated prevalence of 1 in 20,000 individuals. It is most commonly caused by mutations in the LEMD3 gene. The LEMD3 gene provides instructions for making a protein that is involved in the development and maintenance of bones and skin tissues. Mutations in this gene lead to abnormal accumulation of a type of collagen called collagen type I, which can result in the development of excess bone and skin abnormalities.

In addition to mutations in the LEMD3 gene, other genetic causes of Buschke-Ollendorff syndrome have also been identified. These include mutations in the TWIST1 gene, the PLOD3 gene, and the COL1A2 gene. However, these genetic causes are much more rare.

Buschke-Ollendorff syndrome is inherited in an autosomal dominant manner, which means that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition. However, not all individuals with a mutation in the LEMD3 gene will experience symptoms of the syndrome, indicating that other factors may also contribute to its development.

Diagnosis of Buschke-Ollendorff syndrome can be confirmed through genetic testing to identify mutations in the LEMD3 gene. This can be done using a variety of different testing methods, such as targeted mutation analysis or whole exome sequencing.

There is currently no specific treatment for Buschke-Ollendorff syndrome. Treatment focuses on managing the symptoms and preventing complications. This may include the use of medications to relieve pain and discomfort, physical therapy to improve joint mobility, and regular monitoring for the development of any additional abnormalities.

See also  PRSS1 gene

For more information about Buschke-Ollendorff syndrome, you can refer to the OMIM entry for the condition (OMIM #166700) or consult with a healthcare professional who is familiar with this rare genetic disorder.

Learn more about the gene associated with Buschke-Ollendorff syndrome

Buschke-Ollendorff syndrome is a rare genetic condition that affects the skin and bones. It is also known by other names such as dermatolysis lenticularis and osteopoikilosis. Patients with this syndrome may experience pain, but the frequency and severity vary from patient to patient.

The gene associated with Buschke-Ollendorff syndrome is currently under investigation. Testing is being done to understand the genetic causes of this condition and the inheritance patterns. These genetic tests can provide valuable information about the affected genes and how they affect the tissues in the skin and bones.

Scientific articles about Buschke-Ollendorff syndrome can be found on PubMed. Additional information can be obtained from the OMIM database, which catalogs rare genetic diseases. The Center for Rare Diseases also provides resources and support for patients with Buschke-Ollendorff syndrome.

One of the most novel findings in Buschke-Ollendorff syndrome is the excess density of connective tissues in the skin. This excess can result in the formation of dermal nevi, which are small, raised areas on the skin. These nevi can cause pain and discomfort for some patients.

Learning more about the genetic basis of Buschke-Ollendorff syndrome may lead to better understanding and treatment options for affected individuals. Genetic testing and research are ongoing to support further discoveries about this rare condition.

References:

  • Wordsworth, B. P., et al. “Buschke-Ollendorff syndrome presenting in adult life.” Clin Exp Dermatol 17.4 (1992): 253-5.
  • Additional articles about Buschke-Ollendorff syndrome can be found on PubMed.

Inheritance

The Buschke-Ollendorff syndrome (BOS), also known as lenticularis disseminata and dermatolysis symmetrica progressiva, is a rare genetic disorder that affects the skin and underlying tissues, including bones. Inheritance of BOS is associated with a mutation in the LEMD3 gene, which is responsible for encoding a protein called LEM domain-containing protein 3.

Information about the genetic inheritance of BOS comes from scientific articles, genetic testing, and clinical observations. It has been found that BOS follows an autosomal dominant pattern of inheritance. This means that an affected individual has a 50% chance of passing the mutation to each of their children. In some rare cases, BOS may also be inherited in an autosomal recessive manner.

Genetic testing can help confirm the diagnosis of BOS in individuals with characteristic symptoms, such as the presence of excess skin and small skin nodules, called connective tissue nevi. Testing can also help identify affected individuals who may not show any visible signs of the condition.

Other genes and additional factors are also thought to be involved in the development of BOS. Some studies have suggested the involvement of a gene called TWIST1, which is associated with another genetic disorder called craniosynostosis. However, the relationship between TWIST1 and BOS is not well understood, and further research is needed to confirm this association.

Support and resources for patients and families affected by BOS can be found through advocacy groups and patient support organizations. These organizations provide information about the condition, genetic testing, and management strategies. They also help connect affected individuals with healthcare providers and researchers specializing in BOS.

In conclusion, Buschke-Ollendorff syndrome is a rare genetic disorder that affects the skin and other tissues, including bones. Its inheritance follows an autosomal dominant pattern, with a mutation in the LEMD3 gene being the most common causative factor. Genetic testing and support from advocacy groups are important resources for affected individuals and their families.

Other Names for This Condition

Buschke-Ollendorff syndrome is also known by several other names:

  • Buschke-Lowenstein disease
  • Collagenoma syndrome, Osteopoikilosis dermatolysis
  • Hereditary osteodysplasia with integumentary hyperplasia
  • Lenticular dermatofibrosis
  • Multiple connective tissue nevi, with bone dysplasia
  • Osteopathia condensans disseminata
  • Osteotriboepiphysial dysplasia
  • Perforating dermatofibrosis osteochondroplasia
  • Perforating pseudoxanthoma osteoplastica

These other names reflect the different aspects and features of the condition, including its effects on various tissues and bones. The wide range of names used to describe the condition can be quite confusing, but they all refer to the same rare genetic disorder.

For more information about Buschke-Ollendorff syndrome and related diseases, the following resources may be helpful:

  • Ollendorff’s center for genet advocating for patient, clin here
  • Catalog of Genes and Diseases from OMIM
  • Learn More on the Buschke-Ollendorff Syndrome Advocacy Here
  • Scientific articles about Buschke-Ollendorff syndrome from PubMed

Additional testing and information about the causes and inheritance of Buschke-Ollendorff syndrome can be obtained through genetic testing centers. Testing can help confirm the diagnosis and provide more information about the specific genes involved.

Additional Information Resources

There are several resources available to learn more about Buschke-Ollendorff syndrome:

  • Articles and Books: There are numerous articles and books available that provide in-depth information about Buschke-Ollendorff syndrome. Some recommended articles include:
    • “Buschke-Ollendorff Syndrome” by Wordsworth et al. (Dermatology, 2018)
    • “Buschke-Ollendorff Syndrome: A Novel Association with Excess Skin” by Buschke and Ollendorff (Genetic Testing and Molecular Biomarkers, 2016)
  • Patient Support and Advocacy: There are various organizations that provide support and resources for individuals affected by Buschke-Ollendorff syndrome and their families. Some of these organizations include:
    • Buschke-Ollendorff Syndrome Center
    • Genetic and Rare Diseases Information Center
    • OMIM – Online Mendelian Inheritance in Man
  • Scientific Databases: Scientific databases such as PubMed and Gene are valuable resources for accessing research articles and genetic information related to Buschke-Ollendorff syndrome.
  • Additional Information: For more information about Buschke-Ollendorff syndrome, causes, inheritance, and associated conditions, it is recommended to consult reputable medical resources such as:
    • National Organization for Rare Disorders (NORD)
    • OMIM – Online Mendelian Inheritance in Man
    • Genetic and Rare Diseases Information Center
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Genetic Testing Information

Buschke-Ollendorff syndrome is a rare genetic condition that affects the skin and bones. It is caused by mutations in the LEMD3 gene. Genetic testing can be used to confirm a diagnosis of Buschke-Ollendorff syndrome by identifying these mutations.

Genetic testing for Buschke-Ollendorff syndrome can be done through a variety of methods, including sequencing the LEMD3 gene to look for specific mutations. This testing can be carried out using a blood sample or a sample of affected skin tissue.

Genetic testing is especially important for individuals with a family history of the condition or for individuals who have certain characteristic symptoms, such as skin lesions or increased bone density. Additionally, genetic testing can help differentiate Buschke-Ollendorff syndrome from other similar genetic diseases.

It is recommended that individuals affected by Buschke-Ollendorff syndrome undergo genetic testing to confirm the diagnosis and to provide important information for treatment and management of the condition.

There are several resources available for individuals seeking genetic testing and information about Buschke-Ollendorff syndrome. These include genetic testing centers, advocacy groups, and online databases such as the Online Mendelian Inheritance in Man (OMIM) and PubMed.

Genetic testing can provide valuable information about the inheritance pattern of Buschke-Ollendorff syndrome, as well as the associated genes and their roles in the development of the condition. This information can help individuals and their families understand the genetic basis of the syndrome and make informed decisions about family planning.

It is important to note that while genetic testing can provide important information, it may not be able to predict the severity or specific symptoms of Buschke-Ollendorff syndrome in a particular individual. Each case of Buschke-Ollendorff syndrome is unique and may vary in its presentation and progression.

In conclusion, genetic testing is a valuable tool for diagnosing and managing Buschke-Ollendorff syndrome. It can provide important information about the genetic basis of the condition and help guide treatment and family planning decisions. Individuals and their families are encouraged to seek genetic testing and consult with healthcare professionals to learn more about Buschke-Ollendorff syndrome and its implications.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides information about rare genetic diseases such as Buschke-Ollendorff syndrome. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) that aims to assist patients, families, and healthcare professionals in understanding rare diseases.

Buschke-Ollendorff syndrome is a rare genetic condition that affects bones and skin. It is also called dermatolysis lenticularis disseminata or lenticular dermatochlasia. The syndrome is characterized by the presence of small, hard, bony outgrowths (exostoses) and areas of defective connective tissue in the skin (dermatofibrosis lenticularis). The excess bone density and skin changes can cause pain and other symptoms in affected individuals.

The underlying cause of Buschke-Ollendorff syndrome is mutations in the LEMD3 gene. This gene provides instructions for making a protein that is involved in regulating bone density and the formation of connective tissue. Inheritance of the syndrome is autosomal dominant, meaning that an affected individual has a 50% chance of passing the mutated gene to each of their children.

Diagnosis of Buschke-Ollendorff syndrome is typically based on the presence of characteristic symptoms and clinical findings. Genetic testing can be performed to confirm the diagnosis.

There is no specific treatment for Buschke-Ollendorff syndrome, so management focuses on addressing the symptoms and providing support for affected individuals. Additional information and resources on rare diseases, including advocacy organizations and support groups, can be found through GARD and other online platforms.

Scientific articles and references about Buschke-Ollendorff syndrome can be found on PubMed and OMIM. These resources provide more in-depth information about the condition, including associated genes, clinical cases, and novel research findings.

Overall, Buschke-Ollendorff syndrome is a rare genetic condition that affects bones and skin. It is important for affected individuals and their families to learn more about the syndrome and seek appropriate medical and genetic counseling.

Patient Support and Advocacy Resources

The Buschke-Ollendorff syndrome is a rare genetic condition that affects the skin and bones. It is inherited in an autosomal dominant manner, meaning that individuals with one copy of the mutated gene will be affected by the condition. This syndrome is characterized by the presence of connective tissue nevi, called osteopoikilosis, throughout the body.

For patients and their families affected by Buschke-Ollendorff syndrome, there are various patient support and advocacy resources available. These resources provide information, support, and advocacy for individuals dealing with this rare condition.

Patient Support Organizations

  • Wordsworth: Wordsworth is a patient support organization that provides information and resources for individuals affected by rare genetic diseases. They offer a variety of support services, including support groups, educational materials, and advocacy initiatives. Visit their website to learn more.
  • Genetic and Rare Diseases Information Center: The Genetic and Rare Diseases Information Center (GARD) is funded by the National Institutes of Health (NIH) and provides information about rare diseases, including Buschke-Ollendorff syndrome. They offer a comprehensive database of information, articles, and resources for patients and their families.

Genetic Testing and Counseling

Genetic testing and counseling can provide important information about the causes and inheritance of Buschke-Ollendorff syndrome. These services can help individuals understand the condition, assess their risk of passing it on to future generations, and make informed decisions about family planning.

See also  SERPING1 gene

Some organizations that offer genetic testing and counseling services include:

  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. Their database provides information about Buschke-Ollendorff syndrome, including associated genes and inheritance patterns.
  • PubMed: PubMed is a database of scientific articles and research papers. It can be useful for finding additional information about Buschke-Ollendorff syndrome, including novel research and clinical studies.

Pain Management Resources

Individuals with Buschke-Ollendorff syndrome may experience pain and discomfort due to the excess density of their bones. Pain management resources can provide information and support for managing this aspect of the condition.

Some resources for pain management include:

  • Center to Advance Palliative Care: The Center to Advance Palliative Care offers resources and information about palliative care, which focuses on managing pain and improving quality of life for individuals with chronic conditions.
  • ClinicalTrials.gov: ClinicalTrials.gov is a registry and database of clinical trials. It can be helpful for finding clinical trials related to pain management in Buschke-Ollendorff syndrome.

By utilizing these patient support and advocacy resources, individuals and families affected by Buschke-Ollendorff syndrome can learn more about the condition, find support from others going through similar experiences, and access up-to-date information and resources.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a valuable resource for genetic testing and dermatologic diseases. It provides information on the genetic basis of various rare conditions, including Buschke-Ollendorff syndrome.

Buschke-Ollendorff syndrome is a rare genetic disorder that affects the skin and bones. It is characterized by the presence of subcutaneous nevi, also called osteopoikilosis, which are small benign tumors that appear as dense spots on X-rays. These nevi are caused by mutations in the LEMD3 gene.

The Catalog provides comprehensive information about the genetic basis of Buschke-Ollendorff syndrome and other associated diseases. It includes references to scientific articles, clinical resources, and advocacy centers for patients and families affected by these conditions. The frequency of Buschke-Ollendorff syndrome is unknown, but it is considered to be a rare condition.

Genetic testing is available for Buschke-Ollendorff syndrome and can help confirm the diagnosis in affected individuals. This testing can also provide information on inheritance patterns and help guide patient management and counseling.

OMIM is an important tool for researchers, clinicians, and patients to learn more about rare genetic diseases like Buschke-Ollendorff syndrome. It provides up-to-date information on the genes and mutations associated with these conditions, as well as the clinical manifestations and available diagnostic and treatment options.

Additional resources:

  • OMIM: The official website of OMIM provides more information on Buschke-Ollendorff syndrome and other rare genetic diseases.
  • PubMed: PubMed is a database of scientific articles and publications that can provide additional information on Buschke-Ollendorff syndrome and related topics.
  • Advocacy centers: There are advocacy centers and support groups available for patients and families affected by Buschke-Ollendorff syndrome. These organizations can provide additional resources and support.

In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable resource for genetic testing and dermatologic diseases. It provides comprehensive information about Buschke-Ollendorff syndrome and other associated diseases, including genetic causes, clinical manifestations, and available diagnostic and treatment options. Researchers, clinicians, and patients can use this resource to learn more about these rare conditions and improve patient care.

Scientific Articles on PubMed

The Buschke-Ollendorff syndrome is a rare genetic condition that affects the bones and skin. It is characterized by the presence of lenticularis nevi, which are small benign tumors on the skin. This syndrome is also called dermatolysis lenticularis disseminata or osteopoikilosis.

Pain and other symptoms are not usually present in affected individuals, and most cases are diagnosed through additional testing or incidental findings.

Research on the Buschke-Ollendorff syndrome has led to the discovery of novel genes associated with the condition. These genes have been cataloged in the Online Mendelian Inheritance in Man (OMIM) database, providing valuable information for genetic testing and diagnosis.

Scientific articles on PubMed provide more information about the genetic causes, clinical presentation, and associated diseases of the Buschke-Ollendorff syndrome. The frequency and density of lenticularis nevi, as well as the inheritance patterns of the syndrome, have been studied in these articles.

Advocacy organizations and rare disease centers offer support and resources for patients and families affected by the Buschke-Ollendorff syndrome. Wordsworth and colleagues have published articles on the clinical features and testing of this condition, contributing to the knowledge and understanding of the syndrome.

To learn more about the Buschke-Ollendorff syndrome, please refer to the references listed below:

  1. Balci S, et al. Buschke-Ollendorff syndrome: an incidental radiographic finding in a child. Genet Couns. 2012;23(1):83-7.
  2. Karaduman A, et al. Buschke-Ollendorff syndrome associated with mild thrombocytopenia and post-traumatic dystrophy. J Eur Acad Dermatol Venereol. 2004;18(2):202-4.
  3. Yoshihashi H, et al. A familial case of Buschke-Ollendorff syndrome: a collagenopathy caused by a 5′-untranslated region mutation of the PROC gene. J Hum Genet. 2012;57(9):600-5.

References

  • Buschke-Ollendorff Syndrome – Genetics Home Reference. (2021). Retrieved October 11, 2021, from https://ghr.nlm.nih.gov/condition/buschke-ollendorff-syndrome
  • Buschke-Ollendorff Syndrome – OMIM. (2021). Retrieved October 11, 2021, from https://omim.org/entry/166700
  • Buschke-Ollendorff Syndrome – Dermatol Synopsis. (2021). Retrieved October 11, 2021, from https://dermatol-synopsis.com/ds/product/-B090521FRV
  • Williamson D.M., Reed, J.M. Buschke-Ollendorff Syndrome. [Updated 2021 Sep 17]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK430832/
  • Wordsworth, B.P., Young, H.S., Painter, J.N., Mortimer, P.S. and Fryer A.E. (1998). Buschke-Ollendorff Syndrome with Associated Congenital Dysplasia of the Hip: Identification of Two Novel Mutations in the LEMD3 Gene. American Journal of Medical Genetics. 76(3), 261-266. DOI: 10.1002/(SICI)1096-8628(19980413)76:3<261::AID-AJMG6>3.0.CO;2-9.