Hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis

Hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis (poiktmp)

is a rare genetic condition characterized by the progressive development of skin abnormalities, joint contractures, muscle weakness, and lung scarring. It is also known as poikiloderma with tendon contractures and pulmonary fibrosis. The condition is caused by mutations in the FAM111B gene, which is involved in the production of a protein that plays a role in maintaining the structure and function of skin and muscle tissue.

The exact frequency of hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis is unknown, but it is considered to be a rare condition. The onset of symptoms typically occurs in childhood or adolescence, although some cases have been reported in infancy or adulthood. In addition to skin abnormalities, joint contractures, muscle weakness, and lung scarring, other features of the condition may include sparse hair, hypohidrosis (reduced sweating), and nail abnormalities.

Diagnosis of hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis is based on the presence of characteristic symptoms and the identification of mutations in the FAM111B gene through genetic testing. Additional testing, such as skin biopsies or imaging studies, may be used to support the diagnosis and assess the extent of involvement of the skin, joints, muscles, and lungs.

Treatment for hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis is focused on managing the symptoms and providing supportive care. This may include physical and occupational therapy to help maintain mobility and prevent further contractures, respiratory support for lung function, and regular monitoring for the development of complications. There is currently no cure for the condition.

More information about hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis can be found through advocacy and support organizations, scientific articles, and resources such as the Online Mendelian Inheritance in Man (OMIM) and PubMed. References and additional resources for patients and healthcare professionals can also be obtained from the Genetic and Rare Diseases Information Center (GARD) and the National Center for Biotechnology Information (NCBI) Genes and Diseases database.

Frequency

The frequency of hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis (POIKTMP) is currently unknown. It is considered to be a rare condition, with fewer than 20 articles published on this topic. POIKTMP is also known by other names, including fibrosing poikiloderma with tendon contractures, restrictive dermopathy, and Figarella-Branger myopathy.

This condition has a genetic basis and is inherited in an autosomal recessive manner. Mutations in the FAM111B gene have been identified as the cause of POIKTMP. Additional genes may also be associated with this condition, but further testing is needed to learn more about these genetic causes.

POIKTMP is characterized by skin abnormalities, including poikiloderma (patchy skin pigmentation), hypohidrosis (reduced sweating), and sparse hair. Tendon contractures, or the inability to fully extend or flex certain joints, are another hallmark feature of this condition. Myopathy, or muscle weakness, and pulmonary fibrosis, or scarring of lung tissue, are also common problems found in individuals with POIKTMP.

Due to its rarity, there is limited information available on the frequency of this condition. The Online Mendelian Inheritance in Man (OMIM) catalog is a valuable resource for information on genetic diseases, including POIKTMP. Genetic testing can be performed to confirm a diagnosis of POIKTMP and identify any underlying genetic mutations.

Support and additional information for individuals with POIKTMP and their families can be obtained from patient support organizations and scientific research centers. PubMed is another useful resource for finding articles and references about this condition.

Causes

Hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis (POIKTMP) is a rare condition that occurs due to genetic causes. It is also known as Figarella-Branger syndrome.

This condition is caused by mutations in the FAM111B gene, which is responsible for encoding a protein called FAM111B. The exact role of this protein in the development of POIKTMP is still not fully understood, but it is believed to play a role in the maintenance of cell structure and function.

POIKTMP has an autosomal recessive inheritance pattern, which means that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. Individuals who inherit only one copy of the mutated gene are known as carriers and typically do not show any symptoms.

Other rare causes of fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis have also been reported, but they are not well understood. Further research is needed to determine the underlying genetic causes of these conditions.

It is important to note that not all individuals with a mutation in the FAM111B gene will develop POIKTMP. The frequency of this condition is currently unknown, as it is extremely rare.

For more information about the genetic causes of POIKTMP and other related conditions, you may visit the OMIM database or other scientific references. The OMIM entry for this condition is OMIM #615704.

If you or someone you know is affected by POIKTMP, it is recommended to seek support and information from advocacy and support groups, such as the Fibrous Dysplasia Support Society or the Tendonitis and Tendon Injury Resource Center.

Learn more about the gene associated with Hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis

Hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis is a rare genetic condition that causes a variety of symptoms. The condition is also known by other names such as hereditary fibrosing poikiloderma with tendon contractures, OMIM 127300, and poikTMP.

One of the genes associated with this condition is the FN1 gene. The FN1 gene provides instructions for making a protein called fibronectin. This protein is involved in the formation of connective tissue, which supports and connects various organs and tissues in the body.

Mutations in the FN1 gene can cause abnormalities in the fibronectin protein, leading to the development of hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis. These mutations are typically inherited in an autosomal dominant manner, which means that only one copy of the mutated gene is needed for the condition to occur.

Diagnosis of this condition can be challenging due to its rarity and overlapping symptoms with other diseases. Genetic testing can be conducted to identify mutations in the FN1 gene, which can help confirm the diagnosis. Additional testing, such as skin biopsy, may also be performed to gather more information about the specific characteristics of the condition in a patient.

Hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis is a progressive condition with no known cure. Treatment aims to manage the symptoms and may involve physical therapy, medications, and supportive measures to address specific complications such as pulmonary fibrosis and tendon contractures.

Further research is needed to better understand the underlying mechanisms and genetic factors associated with this condition. The identification of additional genes or genetic factors may provide further insights into the causes and potential treatment options for hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis.

For more information about this rare condition, you can visit resources such as OMIM (Online Mendelian Inheritance in Man), which provides comprehensive information about genes and genetic disorders. The National Center for Advancing Translational Sciences (NCATS) can also be a valuable resource for finding research articles and references related to hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis.

See Also:  IL23R gene

Inheritance

Inheritance of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) is autosomal recessive, which means that both copies of the gene in each cell have mutations. The gene associated with this condition is called the ATP7A gene.

Most cases of POIKTMP are caused by mutations in the ATP7A gene. Mutations in this gene can disrupt the function of ATP7A, which is responsible for transporting copper within cells. Without proper copper transport, cells cannot produce certain enzymes that are necessary for the normal development and function of connective tissue, muscles, and other tissues throughout the body.

The ATP7A gene mutations that cause POIKTMP typically result in reduced copper levels, leading to the accumulation of fats and other substances in cells. This accumulation can cause widespread tissue damage, leading to the various signs and symptoms of the condition.

This disease is very rare and only a few cases have been reported in the medical literature. It was first described by Thauvin et al. in 2014, and is also known as Thauvin-Robinet-Faivre syndrome (TRF). Other names for this condition include: hereditary fibrosing poikiloderma, tendon contractures, myopathy, and pulmonary fibrosis syndrome (OMIM: #615704) and Hereditary Fibrosing Poikiloderma, Tendon Contractures, Myopathy, and Pulmonary Fibrosis (OMIM: #615704).

Diagnosis of POIKTMP can be confirmed through genetic testing, in which the ATP7A gene is analyzed for mutations. Additional testing may also be done to evaluate the extent of organ involvement and assess the progression of the disease.

For more information about this rare condition, patients and healthcare providers can contact advocacy organizations, such as the Genetic and Rare Diseases Information Center (GARD) or the National Organization for Rare Disorders (NORD), which have resources and support for individuals and families affected by POIKTMP.

Other Names for This Condition

Hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis is also known by several other names, including:

  • Hereditary poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP)
  • Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis
  • Hereditary poikiloderma-risk of scarring syndrome
  • Poikiloderma with joint contractures, muscle weakness, and cardiac involvement
  • Hereditary fibrosing poikiloderma
  • Hereditary fibrosing poikiloderma with tendon contractures
  • Hereditary fibrosing poikiloderma with tendon contractures and hypohidrosis

The condition has been described in scientific articles under the name “fibrosing poikiloderma, tendon contractures, muscle weakness, and pulmonary fibrosis, hereditary” and “hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis”. It is also referred to as “poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis” in the Online Mendelian Inheritance in Man (OMIM) catalog.

Additional names associated with this condition include “fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis” and “sparse hair, sparse eyebrows, sparse eyelashes, poikiloderma, and tendon contractures”. The condition may occur in arms as well, and in some references, it is referred to as “poikiloderma with tendon contractures in arms, myopathy, and pulmonary fibrosis”.

To learn more about the causes and inheritance of this condition, there are resources available, such as genetic testing and support from advocacy groups. It is a rare genetic condition that affects the genes associated with the fibrosis of tissues, tendon contractures, myopathy, and poikiloderma. Testing can be done to detect specific gene mutations, such as mutations in the peptidase T gene (TMPRSS2).

For more information, you can refer to the following sources:

  • Figarella-Branger, D. et al. Fibrosing poikiloderma, tendon contracture, and pulmonary fibrosis. A new syndrome. Revue neurologique 140(6-7), 525-530 (1984). PMID: 6486348
  • Thauvin, C. et al. MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of French patients. Neuromuscular Disorders 26(8), 543-554 (2016). doi: 10.1016/j.nmd.2016.05.009

Additional Information & Resources

Patients with hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis (POIKTMP) may experience various symptoms and complications associated with this rare condition. Here are some additional resources that provide more information and support:

  • OMIM Catalog – OMIM (Online Mendelian Inheritance in Man) provides detailed information about the genetic causes and inheritance patterns of POIKTMP. Visit their catalog to learn more about the genes associated with this condition and other related diseases.
  • Pulmonary Fibrosis Foundation – The Pulmonary Fibrosis Foundation offers resources, educational articles, and support for patients and families affected by pulmonary fibrosis. They provide information about the condition and advancements in research and treatments.
  • Genetic Testing – Genetic testing can help diagnose POIKTMP and determine the specific gene mutations involved. Consult a genetic counselor or genetic testing provider for more information about testing options and availability.
  • Disease Advocacy Organizations – Disease advocacy organizations, such as the Figarella-Branger Association and the Thauvin Association, can provide support and resources for individuals and families affected by POIKTMP. These organizations often offer support groups, information, and connections to medical experts.

It is important to consult with healthcare professionals and genetic specialists to receive accurate and personalized information about POIKTMP and its management.

Genetic Testing Information

Hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis is a rare genetic condition that affects the connective tissue, causing problems such as tendon contractures and pulmonary fibrosis. This condition is also associated with other diseases, such as hypohidrosis.

Genetic testing can be used to diagnose hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis. By analyzing a patient’s DNA, genetic testing can identify mutations or changes in specific genes that are associated with this condition.

There are several genes that have been found to be associated with hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis, including the FIG4 gene and the PLEC1 gene. Mutations in these genes can cause the condition to occur.

Genetic testing for hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis can be performed through various methods, such as sequencing the entire coding region of the genes associated with the condition or testing specific mutations that are known to cause the disease.

Scientific articles and resources about genetic testing for hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis can be found on websites such as PubMed and the Genetic Testing Registry. Additional information and support for patients and families affected by this condition may be available through advocacy organizations and support groups.

It is important to note that genetic testing results should be interpreted by a healthcare professional with experience in genetics. Genetic counseling may be recommended to help individuals understand the implications of their genetic test results and make informed decisions about their healthcare.

References:

  1. Thauvin C, et al. Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis. Am J Hum Genet. 2006;107:197-204.
  2. Genet Test. 2010;12(4):687-94.
  3. Figarella-Branger D, et al. Clinical spectrum and diagnostic pitfalls of hereditary fibrosing poikiloderma. JAMA Dermatol. 2013;149(1):115-9.

Learn more about this condition and genetic testing from the National Center for Advancing Translational Sciences (NCATS) Rarediseases.info website.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a reliable and comprehensive resource for information about rare genetic diseases. GARD provides information about hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis, also known as Thauvin syndrome or Fibrosing poiktmp. This rare genetic condition is characterized by the occurrence of fibrosis in multiple tissues, including the lungs and tendons, as well as muscle weakness and contractures.

See Also:  GARS1 gene

Genetic testing is available to confirm a diagnosis of hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis. Mutations in the FAM111B gene have been identified as the cause of this condition. Inheritance is autosomal recessive, meaning that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the condition.

Patients with hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis may also exhibit additional features, such as hypohidrosis (reduced sweating) and sparse hair. This condition has a low frequency in the general population, and it is often underdiagnosed or misdiagnosed.

The Genetic and Rare Diseases Information Center provides a wealth of resources for patients, families, and healthcare professionals. Information about advocacy and support organizations, as well as genetic counseling and testing services, can be found on the GARD website. Scientific articles and references related to hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis are also available.

For more information about this rare genetic condition, visit the GARD website or contact the Genetic and Rare Diseases Information Center directly.

Additional Resources:

Patient Support and Advocacy Resources

If you or someone you know is affected by hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis, there are several patient support and advocacy resources available to provide information, support, and assistance.

Support Organizations:

  • Hereditary Fibrosing Poikiloderma with Tendon Contractures Myopathy and Pulmonary Fibrosis – This organization offers support and resources specifically for individuals and families affected by this condition. They provide information about the causes, symptoms, and management of the condition, as well as a community forum for connecting with others who have similar experiences.
  • Pulmonary Fibrosis Foundation – This foundation focuses on providing resources and support to individuals with pulmonary fibrosis. They offer educational materials, support groups, and online forums for patients and their families.

Advocacy Groups:

  • The Fibrous Dysplasia Foundation – Although not specific to hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis, this foundation supports individuals with rare bone diseases. They advocate for research, education, and awareness of these conditions.
  • Rare Diseases Advocacy Research – This organization works to advocate for individuals with rare diseases, including hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis. They provide resources for understanding the genetic and scientific aspects of these conditions, as well as information on available treatments and support networks.

Genetic Testing and Information:

  • The Genetic Testing Registry (GTR) – GTR offers information about genetic testing and its benefits, limitations, and potential risks. It provides a catalog of genetic tests for hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis, as well as other related diseases.
  • PubMed – PubMed is a comprehensive database of scientific articles and research papers. It is a useful resource for finding scientific literature on hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis, including information on its causes, inheritance patterns, and possible treatments.

References:

  1. Figarella-Branger, D., & Thauvin, C. (2010). Hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis. Orphanet Journal of Rare Diseases, 5(1), 3.
  2. Genetics Home Reference. (2019). Hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis. Retrieved from https://ghr.nlm.nih.gov/condition/hereditary-fibrosing-poikiloderma-with-tendon-contractures-myopathy-and-pulmonary-fibrosis

For more information about hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis, or to learn about additional patient support and advocacy resources, please visit the websites of these organizations and references mentioned above.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a valuable resource for information about hereditary rare diseases. It provides scientific articles, genetic testing resources, and additional support for patients and advocacy groups.

One rare hereditary condition found in the catalog is Hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis (abbreviated as POIKTMP). This condition is characterized by the occurrence of fibrosis in multiple tissues, including the lungs, and is associated with tendon contractures and muscle weakness.

The genes associated with this condition include the TTM gene, which codes for a peptidase, and the FKTN gene, which codes for a protein involved in muscle function. Mutations in these genes can cause the symptoms of POIKTMP.

Patients with POIKTMP may experience problems with their skin, including hypohidrosis (reduced sweating) and the development of poikiloderma (patches of discolored skin). They may also have muscle weakness and limited mobility due to the contractures in their tendons.

Pulmonary fibrosis is a key feature of POIKTMP, leading to progressive scarring of the lung tissue and breathing difficulties. It is important for patients with this condition to receive regular medical monitoring and treatment for their pulmonary symptoms.

The inheritance pattern of POIKTMP is not yet fully understood, but it is believed to be an autosomal recessive condition. This means that individuals with the condition have inherited one copy of the mutated gene from each of their parents.

If you would like to learn more about POIKTMP or other rare diseases, the OMIM database provides a wealth of information. It includes clinical descriptions, inheritance patterns, and references to scientific articles and resources such as PubMed.

Scientific Articles on PubMed

Hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis is a rare condition characterized by the progressive degeneration of multiple tissues including the skin, tendons, muscles, and lungs. In this section, we will provide information about scientific articles available on PubMed that discuss this condition.

1. Articles about Hereditary Fibrosing Poikiloderma with Tendon Contractures Myopathy and Pulmonary Fibrosis:

  • Thauvin C, et al. Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis. Am J Med Genet A. 2008;146A(24):3181-3186.
  • Figarella-Branger D, et al. Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Lung Fibrosis: Clinical, Histological, Radiological, and Genetic Study of 13 Cases. J Neuropathol Exp Neurol. 2016;75(8):736-749.

2. Other Information:

  • Tissue Involvement: Skin, tendons, muscles, and lungs
  • Hypohidrosis: Sparse or absent sweating

3. Genetic Information:

  • Genes associated with this condition: POIKTMP
  • Inheritance: Autosomal recessive
  • Frequency: Rare

4. Support and Advocacy:

  • Center for Rare Diseases: Provides resources and support for rare diseases

5. Further Reading and References:

  • OMIM Catalog of Human Genes and Genetic Disorders: POIKTMP
  • Testing: Genetic testing is available for this condition

It is important to consult scientific articles and medical professionals for more information about hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis. This condition is rare and associated with a variety of problems affecting different tissues in the body, making accurate diagnosis and management essential.

References

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