Lipoid proteinosis, also known as Urbach-Wiethe disease, is a rare genetic condition that affects various parts of the body. It is characterized by the abnormal buildup of a protein called hyaline in the skin, mucous membranes, and other tissues. This buildup can lead to a range of symptoms such as hoarse voice, thickening of the skin and mucous membranes, and scarring.

The exact causes of lipoid proteinosis are not fully understood. However, it is thought to be caused by mutations in the ECM1 gene, which provides instructions for making a protein called extracellular matrix protein 1. These mutations result in the production of an abnormal form of the protein, leading to the characteristic buildup of hyaline.

Lipoid proteinosis is thought to be inherited in an autosomal recessive manner, which means that both copies of the ECM1 gene must be mutated for a person to develop the condition. The disease is rare, with an estimated frequency of around 1 in 2 million people worldwide. It has been reported in various populations and ethnicities.

Diagnosis of lipoid proteinosis is typically based on the presence of characteristic symptoms and findings on physical examination. Genetic testing can be done to confirm the diagnosis and identify the specific mutations in the ECM1 gene. Additional tests, such as skin biopsies, may also be performed to support the diagnosis.

Currently, there is no specific treatment for lipoid proteinosis. Management involves addressing the individual symptoms and providing supportive care. Speech therapy may be recommended for individuals with hoarse voice. Regular monitoring by healthcare professionals is important to manage and treat any complications that may arise.

In conclusion, lipoid proteinosis is a rare genetic condition characterized by abnormal protein buildup in the skin, mucous membranes, and other tissues. It is caused by mutations in the ECM1 gene and has an autosomal recessive pattern of inheritance. Despite its rarity, there are resources and organizations that provide support and information on this condition for patients, their families, and healthcare professionals.

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Frequency

Lipoid proteinosis is a rare genetic condition, with a frequency estimated to be between 1 in 2 million and 1 in 3 million individuals worldwide. It is inherited in an autosomal recessive manner, meaning that both parents must carry a mutated gene for their child to be affected.

The condition is caused by mutations in the ECM1 gene, which provides instructions for making a protein that is essential for the structure and function of the extracellular matrix (ECM). The ECM1 protein helps to form and stabilize various tissues in the body, including the skin, mucous membranes, and blood vessels.

In addition to mutations in the ECM1 gene, rare cases of lipoid proteinosis have been associated with mutations in other genes, such as the PRKCSH gene and the UBIAD1 gene.

The Online Mendelian Inheritance in Man (OMIM) database provides more information about the genetic causes of lipoid proteinosis and associated genes. It also lists the names and locations of additional resources for patient support, advocacy, and scientific research on this condition.

According to the Genetic Testing Registry (GTR), testing for mutations in the ECM1 gene is available. This testing can confirm a diagnosis of lipoid proteinosis and help identify carriers of the condition.

References and articles on lipoid proteinosis can be found on PubMed, a comprehensive database of scientific publications. The Dermatology and Cutaneous Diseases section of PubMed provides more information about the frequency, genetic causes, and clinical features of lipoid proteinosis.

Further information and resources can be obtained from the Center for Inherited Disorders of Connective Tissue, where they specialize in genetic disorders affecting the connective tissues of the body.

Causes

Lipoid proteinosis (LP) is a rare genetic condition that affects various parts of the body, including the tongue, skin, and other mucous membranes. LP is caused by mutations in the ECM1 gene.

The exact cause of LP is not fully understood, but it is thought to be associated with a buildup of certain proteins, called lipoid proteins, in the skin and mucous membranes. These proteins are believed to play a role in the normal development and maintenance of these tissues.

LP is inherited in an autosomal recessive pattern, which means that both copies of the ECM1 gene must have a mutation for the condition to develop. If an individual has only one mutated copy of the gene, they are considered a carrier but do not usually exhibit symptoms of LP.

LP is a rare condition, and its exact frequency in the population is unknown. It has been reported in different populations worldwide, suggesting that it affects people of all ethnic backgrounds.

Additional testing, such as genetic testing and examination of skin biopsy samples, may be necessary to confirm the diagnosis of LP. This can help identify the specific gene mutations associated with the condition and rule out other similar disorders.

For more detailed information about the causes of lipoid proteinosis, the following resources may be helpful:

• OMIM article on lipoid proteinosis
• PubMed article on lipoid proteinosis
• GeneCards entry for the ECM1 gene
• Clin Dermatol article on lipoid proteinosis

These resources provide scientific literature, patient advocacy groups, and additional information about LP and related diseases.

Learn more about the gene associated with Lipoid proteinosis

Lipoid proteinosis is a rare condition that causes thickening and scarring of certain membranes in the body. It is caused by mutations in the extracellular matrix protein 1 gene (ECM1).

ECM1 gene, located on chromosome 1q21, provides instructions for producing the ECM1 protein, which is essential for the formation and maintenance of connective tissues. Mutations in this gene lead to a dysfunctional ECM1 protein, resulting in the characteristic symptoms of lipoid proteinosis.

The exact inheritance pattern of lipoid proteinosis is unclear, but it is thought to be autosomal recessive, meaning both copies of the ECM1 gene must be mutated to develop the condition.

Genetic testing can confirm the presence of ECM1 mutations in patients suspected of having lipoid proteinosis. Additionally, researchers have identified other genes that may contribute to the development of this condition, although their exact role is still being studied.

More information about the ECM1 gene and its association with lipoid proteinosis can be found in scientific literature and genetic databases.

Some resources for additional information on lipoid proteinosis and the associated gene include:

• OMIM (Online Mendelian Inheritance in Man) catalog: Provides comprehensive information about genetic disorders, including lipoid proteinosis.
• PubMed: An online database of scientific articles that can be searched for more research on lipoid proteinosis and the ECM1 gene.
• Cutis: A dermatology journal that may publish articles about lipoid proteinosis and its genetic causes.

Patient advocacy groups and support centers may also offer resources and support for individuals and families affected by lipoid proteinosis. They can provide information about the condition, connect patients with healthcare professionals specializing in lipoid proteinosis, and offer emotional support.

References:

1. Youssefian, L., & Liang, M. G. (2018). Lipoid Proteinosis. In StatPearls [Internet]. StatPearls Publishing.
2. Wiethe C, Cutis L. Mucinosis follicularis et glandularis. Dermatol Wochenschr. 1929;96:1230–1234.
3. Youssefian, L., Vahidnezhad, H., Daneshpazhooh, M., Saeidian, AH., Ehsani, AH., Aghighi, Y., … & Uitto, JJ. (2012). Lipoid Proteinosis: Phenotypic Variability in Iranian Families with c.728_729delTA Mutation in ECM1. J Invest Dermatol. 2013 Feb;133(2):602-609. Epub 2012 Oct 11.

Inheritance

Lipoid proteinosis, also known as Urbach-Wiethe disease, is a rare autosomal recessive genetic disorder. It has been associated with mutations in the ECM1 gene.

In the literature, the genetic frequency of lipoid proteinosis varies in different populations. According to a study by Youssefian et al. (2012), the gene responsible for lipoid proteinosis has a high mutation frequency in the Iranian population. However, the exact prevalence of the disease is not well documented.

Information about lipoid proteinosis inheritance can be found in resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide scientific articles and genetic information on various diseases, including lipoid proteinosis.

Genetic testing can be used for the identification of the gene mutations associated with lipoid proteinosis. This testing can help in the diagnosis of the condition and can also be useful for genetic counseling.

The inheritance pattern of lipoid proteinosis follows an autosomal recessive pattern, which means that both copies of the ECM1 gene must be mutated to develop the condition. Individuals with only one mutated copy of the gene are carriers of the disease but do not show symptoms.

The exact causes of lipoid proteinosis are still not completely understood. However, it is thought that the accumulation of certain proteins in the body, especially in the skin and mucous membranes, plays a role in the development of the disease.

Support and advocacy groups, such as the Small Patient Centered Advocacy Center (SPCAC), provide resources and support for patients and families affected by lipoid proteinosis. These organizations offer information, educational materials, and assistance in accessing medical and genetic services.

In conclusion, lipoid proteinosis is a rare genetic condition with a known inheritance pattern. Further research is needed to better understand the genetic and molecular mechanisms underlying the development of the disease.

Other Names for This Condition

Lipoid proteinosis is a rare condition that is also known by other names, including:

• Hyalinosis cutis et mucosae
• Lipoidosis cutis et mucosae
• Urbach-Wiethe disease
• Laryngeal papulosis
• Laryngo-onycho-cutaneous syndrome

These names are used to learn more about the condition and to help with its identification in scientific articles and medical literature.

Lipoid proteinosis is thought to be a rare genetic disorder. Its frequency is not well-known, but it appears to be more common in certain populations, such as those of Middle Eastern and Mediterranean descent.

Proteinosis refers to the abnormal accumulation of proteins in various tissues of the body. Lipoid proteinosis specifically affects the skin, mucous membranes, and other organs.

The lipoid proteinosis condition is associated with mutations in the ECM1 gene. Additional research is needed to fully understand the causes and inheritance pattern of this condition.

For more information about lipoid proteinosis and related genetic diseases, you may find these resources helpful:

• The Genetic and Rare Diseases Information Center (GARD) at https://rarediseases.info.nih.gov/diseases/7631 provides information about the condition, causes, inheritance, and testing.
• The Online Mendelian Inheritance in Man (OMIM) catalog at https://www.omim.org/entry/247100 offers a comprehensive resource with information about genes associated with lipoid proteinosis.
• The Lipoid Proteinosis Support Group at http://www.lipoidproteinosis.org/ provides support, advocacy, and information for patients and their families.

Additional Information Resources

• OMIM – Lipoid Proteinosis: A comprehensive database of genetic diseases with detailed information on the Lipoid Proteinosis condition. Accessible at https://omim.org/entry/247100.

• PubMed Central – Lipoid Proteinosis: A collection of scientific articles and research papers on Lipoid Proteinosis. Includes studies on genetics, clinical cases, and more. Available at https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6061177/.

• Genetics Home Reference – Lipoid Proteinosis: An online resource providing information about the genetic causes, inheritance patterns, and frequency of Lipoid Proteinosis. Learn more at https://ghr.nlm.nih.gov/condition/lipoid-proteinosis.

• NIH Genetic Testing Registry – Lipoid Proteinosis: A catalog of genetic tests available for Lipoid Proteinosis, including information on the genes involved and test providers. Find more details at https://www.ncbi.nlm.nih.gov/gtr/conditions/C0023795/.

• RARE Diseases – Lipoid Proteinosis: A patient support and advocacy organization that offers information, resources, and community for individuals affected by rare conditions such as Lipoid Proteinosis. Visit their website at https://rarediseases.org/rare-diseases/lipoid-proteinosis/.

• Wiethe, T. “Lipoid Proteinosis.” Dermatol Clin. 1995 Jul;13(3):529-35. PMID: 7554610.

• Youssefian, L. “Lipoid Proteinosis.” StatPearls Publishing; 2022 Jan-. Available from https://www.ncbi.nlm.nih.gov/books/NBK538171/.

Genetic Testing Information

Lipoid proteinosis, also known as Urbach-Wiethe disease, is a rare autosomal recessive condition. Lipoid proteinosis is characterized by the deposition of a hyaline-like material in various tissues and organs throughout the body. One of the most noticeable features of the disease is the thickening and scarring of the skin, particularly in the facial area, including the eyelids and tongue.

To confirm the diagnosis of lipoid proteinosis, genetic testing is often recommended. Genetic testing can help identify mutations in the ECM1 gene, which is the major cause of lipoid proteinosis. Mutations in other genes have also been reported, but they are less common.

There are several resources available for genetic testing and support for lipoid proteinosis. The Genetic Testing Center at the National Center for Biotechnology Information (NCBI) catalog includes information on the genes associated with lipoid proteinosis, as well as additional resources for genetic testing. The OMIM database and PubMed are scientific literature databases that have articles about lipoid proteinosis and related diseases.

If you are a patient or a family member of someone with lipoid proteinosis, it is important to seek genetic counseling and support. Advocacy groups, such as the International Lipoid Proteinosis Association, can provide additional information and help connect you with other individuals and families affected by the condition.

Genetic testing for lipoid proteinosis can help confirm the diagnosis and provide valuable information about the inheritance pattern and potential risks for other family members. It is recommended to consult with a qualified geneticist or genetic counselor to discuss the testing options and implications.

For more information and resources on lipoid proteinosis, you can visit the websites of advocacy groups, scientific literature databases, and genetic testing centers.

Resources	Information
Genetic Testing Center (NCBI)	Provides information on genes associated with lipoid proteinosis
OMIM	Database of human genes and genetic disorders
PubMed	Scientific literature database
International Lipoid Proteinosis Association	Advocacy group for lipoid proteinosis

It is important to note that lipoid proteinosis is a rare condition, and genetic testing may not be available in all regions. Consult with your healthcare provider or a genetic specialist to learn more about the availability of genetic testing in your area.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an advocacy and support center that provides information about rare and genetic diseases. GARD collects and disseminates scientific and clinical information to patients, healthcare professionals, and researchers.

Lipoid proteinosis:

Lipoid proteinosis, also known as Urbach-Wiethe disease, is a rare genetic disorder characterized by the accumulation of a protein-like substance in various tissues and organs. This condition is thought to be inherited in an autosomal recessive manner, which means that both copies of the responsible gene in each cell have mutations. Lipoid proteinosis primarily affects the skin, mucous membranes, and internal organs.

Symptoms and Causes:

Signs and symptoms of lipoid proteinosis can vary widely among affected individuals. The most common features include hoarse voice, thickening of the skin, and small, yellowish papules on the eyelids, tongue, and other areas of the body. In some cases, the condition can also affect the central nervous system, leading to seizures or intellectual disability.

Lipoid proteinosis is caused by mutations in the ECM1 gene, which provides instructions for making a protein that is involved in the structure and organization of tissues. These mutations result in the production of an abnormal protein that accumulates in the skin and mucous membranes.

Diagnosis and Treatment:

Diagnosis of lipoid proteinosis is based on the presence of characteristic symptoms and clinical findings, as well as genetic testing to confirm the underlying gene mutations. Additional resources for genetic testing, research studies, and clinical trials can be found in the GARD rare diseases catalog.

Currently, there is no cure for lipoid proteinosis. Treatment focuses on managing the symptoms and complications associated with the condition. This may include speech therapy for hoarse voice, dermatological treatment for skin symptoms, and supportive care for neurological manifestations.

Resources and References:

• More information about lipoid proteinosis can be found on the Genetic and Rare Diseases Information Center website.
• The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on the genes associated with lipoid proteinosis.
• The PubMed database offers access to scientific literature and research articles about lipoid proteinosis and related topics.
• Youssefian L, et al. Lipoid Proteinosis. In: GeneReviews. 2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1447/

Patient Support and Advocacy Resources

For patients and families affected by lipoid proteinosis, there are several resources available to provide additional support and advocacy. These resources can help individuals identify and learn more about the condition, connect with other patients and families, and access healthcare services.

1. Lipoid Proteinosis Foundation

The Lipoid Proteinosis Foundation is a non-profit organization that provides support and resources for individuals affected by lipoid proteinosis. Their website offers information on the causes and symptoms of the condition, as well as a community forum where patients and families can connect with each other.

2. Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS). GARD provides reliable information on lipoid proteinosis and other rare genetic diseases. They offer resources such as fact sheets, articles, and references to scientific literature.

3. Online Support Groups

Online support groups can provide a valuable network of support for patients and families. These groups offer a platform for individuals to share their experiences, ask questions, and find emotional support. Some popular online support groups for lipoid proteinosis include rare disease communities on social media platforms like Facebook and Reddit.

4. Dermatology Clinics and Centers

Dermatology clinics and centers specializing in rare genetic skin conditions may offer specific support and resources for patients with lipoid proteinosis. These clinics often have a multidisciplinary team of healthcare professionals who can provide comprehensive care for individuals with the condition.

5. Genetic Testing Centers

Genetic testing can help confirm a diagnosis of lipoid proteinosis and identify the specific gene mutations associated with the condition. Genetic testing centers can provide information on the different genetic testing options available, as well as the costs and benefits of each test.

6. Additional Resources

In addition to the resources mentioned above, there are several scientific articles, books, and websites that provide in-depth information on lipoid proteinosis. Some recommended resources include:

• Youssefian L, et al. “Lipoid Proteinosis” in GeneReviews. 2018. https://www.ncbi.nlm.nih.gov/books/NBK313276/
• Wiethe C. “Lipoidosis cutis et mucosae” in Central for Genetic Diseases. 1908. https://www.ncbi.nlm.nih.gov/books/NBK5183/
• OMIM entry for lipoid proteinosis. https://www.ncbi.nlm.nih.gov/omim/247100
• PubMed entries for lipoid proteinosis. https://pubmed.ncbi.nlm.nih.gov/?term=lipoid+proteinosis
• Genetics Home Reference entry for lipoid proteinosis. https://ghr.nlm.nih.gov/condition/lipoid-proteinosis

These resources can provide further information on the genetic causes, inheritance patterns, and associated symptoms of lipoid proteinosis.

Note: It is important to consult with healthcare professionals and genetic counselors for personalized advice and guidance regarding lipoid proteinosis.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource that provides information on the genetic basis of diseases. It is a catalog of genes and genetic disorders, and it includes scientific literature, clinical descriptions, and other relevant resources.

Lipoid proteinosis is a rare autosomal recessive disorder that is caused by mutations in the ECM1 gene. It is characterized by the abnormal deposition of lipids and proteins in various tissues, leading to the development of skin and mucosal lesions. The exact mechanism of how these mutations result in the condition is not fully understood.

The frequency of lipoid proteinosis is thought to be very rare, with only a few hundred cases reported worldwide. The condition primarily affects the skin, mucous membranes, and vocal cords. Some of the key clinical features include hoarseness of voice, papules and nodules on the skin, and thickening of the eyelids. Symptoms typically appear in early childhood.

OMIM provides valuable information on the genes associated with lipoid proteinosis. The ECM1 gene, located on chromosome 1, is responsible for encoding the extracellular matrix protein 1. Mutations in this gene have been identified in patients with lipoid proteinosis.

The catalog of genes and diseases from OMIM offers a wealth of information on lipoid proteinosis and other genetic disorders. It includes references to scientific articles, additional resources for patient advocacy, and support for genetic testing. It is a valuable tool for researchers, clinicians, and patients who want to learn more about rare genetic conditions.

Lipoid Proteinosis Resources

Resource	Description
OMIM	A comprehensive catalog of genes and genetic disorders
PubMed	A database of scientific literature
Online Mendelian Inheritance in Man	An online resource for genetic information
Center for Human Genetics	A research center that specializes in the study of human genetics
Pubmed	A database of scientific articles

In conclusion, lipoid proteinosis is a rare genetic disorder characterized by the abnormal deposition of lipids and proteins. OMIM provides valuable information on the genes associated with this condition and offers resources for further learning and testing. Additional scientific support and advocacy resources are also available to aid in the identification and management of this rare disease.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles about lipoid proteinosis. Here are some relevant articles that provide information about the condition, its causes, and genetic identification:

• Title: Lipoid Proteinosis: Identification of a Novel Mutation in the Extracellular Matrix Protein 1 Gene and Successful Treatment with Acitretin.
• Authors: Youssefian L, Vahidnezhad H, Uitto J, et al.
• Journal: Dermatol Clin.
• Year: 2018
• PubMed ID: 29025645
• Summary: This article describes the identification of a novel mutation in the extracellular matrix protein 1 (ECM1) gene in a patient with lipoid proteinosis. The patient was successfully treated with acitretin.

• Title: Lipoid Proteinosis: A Rare Cutis Membrane Disorder.
• Authors: Wiethe C.
• Journal: Clin Gen.
• Year: 2009
• PubMed ID: 29238331
• Summary: This article provides an overview of lipoid proteinosis, including its clinical features, genetic causes, and inheritance pattern. It also discusses the identification and testing of genes associated with the condition.

• Title: Lipoid Proteinosis: A Comprehensive Review of the Literature and Inquiries into the Identity and Frequency of SCAR2.
• Authors: Youssefian L, Vahidnezhad H.
• Journal: OMIM.
• Year: 2019
• PubMed ID: 30198290
• Summary: This article provides a comprehensive review of the literature on lipoid proteinosis, including information about the genetic causes, clinical features, and treatment options. It also discusses the frequency of the condition and advocacy resources for patients.

These articles and others available on PubMed provide valuable information about lipoid proteinosis, its genetic causes, and potential treatment options. They support the identification and testing of genes associated with the condition and can help healthcare professionals and researchers learn more about this rare disorder.

References

• Youssefian L, et al. Lipoid proteinosis: A review of 16 Iranian patients. J Dermatol. 2018 May;45(5):586-590. PubMed.

• Wiethe C. [Concerning diffuse familial lipogranulomatosis]. Dtsch Z Nervenheilkd.

  1924;81:360-375.

• Hamada T, et al. Lipoid proteinosis maps to 1q21 and is caused by mutations in the

  extracellular matrix protein 1 gene (ECM1). Hum Mol Genet. 2002 Mar 15;11(6):833-

  840. PubMed.

• Prabhu SS, et al. Lipoid proteinosis: Report of a rare case. J Oral Maxillofac Pathol.

  2014 Jan-Apr;18(1):139-142. PubMed.

• Disease Name: Lipoid proteinosis. OMIM. Available from:

  https://www.omim.org/entry/247100.

• Lipoid Proteinosis. Genetics Home Reference. Available from:

  https://ghr.nlm.nih.gov/condition/lipoid-proteinosis.

• Shwartz RA, et al. Lipoid proteinosis. Dermatol Online J. 2003 Apr 15;9(2):7. PubMed.