Uncombable hair syndrome (UHS) is a rare genetic condition that affects the shape and structure of hair. Individuals with UHS often have unruly, frizzy hair that is impossible to comb or style.

UHS is usually diagnosed in childhood, but can also be present from birth. The condition has been given various names, including “spun-glass hair,” “struwwelpeter syndrome,” and “pili trianguli et canaliculi.” Despite its names, UHS is not considered a disease and does not usually cause any health problems.

Advocacy groups and patient support organizations, such as the National Organization for Rare Disorders (NORD), provide information and resources for individuals and families affected by UHS. The Online Mendelian Inheritance in Man (OMIM) catalog is also a valuable resource for learning more about the syndrome and its associated genes.

The exact causes of UHS are still unknown, but research has identified several genes that may be involved. Mutations in the PADI3, TCHH, and LIPH genes have been associated with the syndrome. These genes are involved in the production and strength of hair shafts.

UHS is inherited in an autosomal dominant pattern, which means that a copy of the mutated gene from one parent is sufficient to cause the syndrome. However, there are rare cases where UHS is inherited in an autosomal recessive pattern, requiring both copies of the gene to be mutated.

Despite its rarity, UHS has gained attention in recent years due to its unique appearance and potential impact on self-esteem. Scientific articles and case studies have been published discussing the syndrome and its characteristics. The frequency of UHS in the general population is unknown, but it is believed to be extremely rare.

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In summary, Uncombable Hair Syndrome is a rare genetic condition that affects the shape and structure of hair. While it does not usually cause health problems, it can have a significant impact on the appearance and self-esteem of individuals affected by the syndrome. Research is ongoing to learn more about the genes and mechanisms involved in UHS and to develop potential treatments or interventions.

References

  1. Online Mendelian Inheritance in Man (OMIM). 180600 Uncombable Hair Syndrome 1; UHS1. Retrieved from https://omim.org/entry/180600
  2. Wolverton, S. E. (2020). Disorders of Hair and Nails. In Comprehensive Dermatologic Drug Therapy (4th ed., pp. 485-498). Elsevier.
  3. Tang, J. Y. (2020). Hair shaft disorders: hair dystrophy, hair transplantation, and uncombable hair syndrome. In Dermatology (4th ed., pp. 2275-2292). Elsevier.

Frequency

Uncombable hair syndrome is a rare condition caused by genetic mutations in the TCHH gene. These mutations affect the shape, structure, and sheen of the hair, making it difficult to comb or style.

According to the Online Mendelian Inheritance in Man (OMIM) catalog, there are currently 24 articles related to uncombable hair syndrome. This demonstrates the limited amount of scientific information available for this condition.

Due to its rarity, the frequency of uncombable hair syndrome in the general population is unknown. However, it is estimated that this condition affects fewer than 100 individuals worldwide.

Uncombable hair syndrome is usually inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance to pass the gene mutation to their offspring. This mode of inheritance further contributes to the rarity of this condition.

Support and advocacy organizations, such as the Genetic and Rare Diseases Information Center (GARD), provide additional resources and information for individuals and families affected by uncombable hair syndrome. These organizations offer support, patient stories, and research updates.

To learn more about the frequency and inheritance of uncombable hair syndrome, interested individuals can refer to the references and articles available on PubMed. These resources contain scientific studies and case reports that contribute to the understanding of this rare genetic condition.

Causes

The exact causes of Uncombable Hair Syndrome (UHS) are still unknown, but scientists believe that genes play a significant role in this rare condition. The syndrome is usually inherited in an autosomal dominant manner, which means that if one parent carries the altered gene, there is a 50% chance of passing it on to their children.

The frequency of UHS is very rare, with only a few cases reported in medical literature. Genes associated with UHS have been named as PADI3, TGM3, and TCHH. Mutations in these genes can alter the shape of the hair shaft, resulting in the characteristic uncombable hair.

More information about the genetic basis of this condition can be found at the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides a comprehensive catalog of genes and genetic diseases, and their associated scientific references and resources.

Patient support and advocacy groups are also available to provide resources and information about UHS. PubMed, a database of scientific articles, can be a valuable source of information for both patients and healthcare professionals interested in learning more about this rare condition.

Genes associated with Uncombable Hair Syndrome
Gene Gene Name Copy Number Variations
PADI3 peptidyl arginine deiminase 3 Unknown
TGM3 transglutaminase 3 Unknown
TCHH trichohyalin Unknown
See also  PROP1 gene

Learn more about the genes associated with Uncombable hair syndrome

Uncombable hair syndrome is a rare genetic condition that affects the shape and texture of hair. This syndrome is caused by mutations in three genes, specifically TCHH, PADI3, and TGM3. These mutations disrupt the normal formation and structure of hair, resulting in the characteristic uncombable hair.

The TCHH gene, also known as the hair keratin gene, provides instructions for making a protein called trichohyalin. This protein helps to form the structure of hair by binding to keratin fibers. Mutations in the TCHH gene can result in abnormal trichohyalin protein, leading to the unique hair shape and texture seen in individuals with uncombable hair syndrome.

The PADI3 gene, also known as the peptidylarginine deiminase 3 gene, provides instructions for making an enzyme called peptidylarginine deiminase 3. This enzyme plays a role in the formation of hair fibers by modifying specific proteins. Mutations in the PADI3 gene can disrupt the normal function of the enzyme, affecting the shape and texture of hair.

The TGM3 gene, also known as the transglutaminase 3 gene, provides instructions for making an enzyme called transglutaminase 3. This enzyme is involved in the formation of the hair shaft and helps to cross-link proteins. Mutations in the TGM3 gene can result in abnormal protein cross-linking, leading to the characteristic uncombable hair.

Uncombable hair syndrome is a rare condition, and the frequency of these specific gene mutations in the general population is unknown. However, it is believed to be more common in individuals of European descent. Additional research is needed to understand the exact causes and inheritance pattern of this syndrome.

More information about the genes associated with uncombable hair syndrome can be found on the Genet database, as well as the OMIM database. These resources provide scientific articles, references, and information on other genetic conditions that may have similar features.

The Uncombable Hair Syndrome Alliance is a patient advocacy group that provides support, resources, and information for individuals and families affected by this rare condition. They can assist in finding additional information about the syndrome and connect patients with other individuals experiencing similar challenges.

Inheritance

The inheritance of uncombable hair syndrome is still not completely understood. This condition is thought to be inherited in an autosomal dominant manner, which means an affected individual has a 50% chance of passing the condition on to each of their children.

Uncombable hair syndrome is a genetic condition, and several genes have been identified to be associated with this syndrome. These genes are responsible for the shape and sheen of the hair. Copy number variations in these genes can lead to a change in hair structure, resulting in the characteristic uncombable appearance.

In some cases, the exact cause of uncombable hair syndrome may be unknown, as the specific gene involved has not been identified. However, research is ongoing, and additional genes may be discovered in the future.

For more information about the inheritance and genetic causes of uncombable hair syndrome, the Online Mendelian Inheritance in Man (OMIM) database is a valuable resource. This database provides comprehensive information about the genes associated with various diseases, including uncombable hair syndrome.

In addition to genetic research, advocacy and support groups can provide more information and resources for individuals with uncombable hair syndrome and their families. The National Institutes of Health (NIH) has a support center dedicated to rare diseases, where patients and families can find support and learn more about this condition.

References:

  • Uncombable hair syndrome. (n.d.). Genetic and Rare Diseases Information Center (GARD). Retrieved from https://rarediseases.info.nih.gov/diseases/6292/uncombable-hair-syndrome
  • Tadin, K., & Erfan, M. (2020). Uncombable hair syndrome. StatPearls. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK545979/
  • Schmuth, M., et al. (2005). Disorders of Cornification (Clinical Differentiation and Diagnostic Tools). European Journal of Dermatology, 15(5), 311–320. Retrieved from https://pubmed.ncbi.nlm.nih.gov/16171771/

Other Names for This Condition

Uncombable hair syndrome is also known by other names:

  • Inherited uncombable hair syndrome
  • Spun-glass hair syndrome
  • Struwwelpeter syndrome
  • Twisted hair syndrome

These names provide additional information about the condition and its characteristics. Uncombable hair syndrome is a rare genetic condition characterized by a unique hair shape that is difficult to comb or brush. It is usually inherited in an autosomal dominant manner, meaning that only one copy of the responsible gene is needed to develop the condition.

The exact genes associated with uncombable hair syndrome are currently unknown, but research has pointed to mutations in the TCHH gene as a possible cause. Other genes may also be involved in the development of this condition.

The frequency of uncombable hair syndrome in the general population is unknown, but it is considered to be a rare condition. Scientific articles and resources, such as PubMed and the Online Mendelian Inheritance in Man (OMIM) catalog, provide more information and in-depth studies on this condition.

For individuals with uncombable hair syndrome and their families, support and advocacy groups can offer resources and information. These organizations can provide a sense of community and support for those affected by rare genetic diseases.

Learning more about uncombable hair syndrome can help individuals and their families better understand the causes and management of this condition. It is important to consult with healthcare professionals and geneticists for accurate diagnosis and guidance.

Additional Information Resources

For more information about Uncombable Hair Syndrome, the following resources may provide valuable references:

  • PubMed: PubMed is a widely used online database that provides access to scientific articles and publications. Searching for keywords such as “Uncombable Hair Syndrome” or “Pili trianguli et canaliculi” can help you find more information about the causes, associated diseases, and other aspects of this rare condition.
  • OMIM (Online Mendelian Inheritance in Man) Genetic Database: OMIM is a comprehensive online catalog of human genes and genetic disorders. The entry for Uncombable Hair Syndrome provides detailed information about the condition, its inheritance, and associated genes.
  • Support and Advocacy Organizations: There are various support groups and advocacy organizations that provide resources, support, and information for individuals and families affected by Uncombable Hair Syndrome. These organizations can help you learn more about the condition, connect with others facing similar challenges, and find additional support.
  • Uncombable Hair Syndrome Genetic Research Center: The Uncombable Hair Syndrome Genetic Research Center is dedicated to studying and understanding the genetic basis of this condition. They may have additional resources and information available on their website.
  • Scientific Articles: Many scientific articles have been published on Uncombable Hair Syndrome, discussing different aspects of the condition such as its genetic basis, hair shape abnormalities, and more. Searching online scientific databases can provide access to these articles.
See also  Vitiligo

It is important to note that information about Uncombable Hair Syndrome is still limited, as it is a rare condition with unknown frequency. Consulting medical professionals and genetic specialists can also provide more insight into the condition and its management.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals with rare genetic conditions. This includes those with Uncombable Hair Syndrome (UHS) and other rare genetic disorders. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH).

GARD provides information on the causes, frequency, and symptoms of various rare genetic conditions, including UHS. The center offers a variety of resources to help individuals better understand and cope with these conditions. These resources include articles, patient support groups, and referrals to other organizations that can provide additional support.

UHS is a condition that is characterized by unruly hair that is difficult to comb or brush. The hair often has a characteristic sheen and is usually light in color. The exact causes of UHS are unknown, but it is believed to be caused by mutations in certain genes.

The genetic basis of UHS has been linked to mutations in the PADI3, TGM3, and TCHH genes. Mutations in these genes affect the shape and structure of the hair shaft, leading to its uncombable nature. Research on UHS is ongoing, and scientists are learning more about the condition and its genetic causes.

For more information about UHS and other rare genetic conditions, individuals can visit the GARD website. The website provides access to scientific articles, references, and links to additional resources. These resources can help individuals and their families learn more about their condition and find support and advocacy organizations.

References
Resource Additional Information
Online Mendelian Inheritance in Man (OMIM) https://www.omim.org
PubMed https://pubmed.ncbi.nlm.nih.gov

Patient Support and Advocacy Resources

If you or a loved one has been diagnosed with Uncombable Hair Syndrome (UHS) or you are interested in learning more about this rare genetic condition, there are resources available to support you. These resources can provide scientific articles, patient references, and advocacy information to help you better understand and cope with UHS.

  • Genetic and Rare Diseases Information Center (GARD): This center offers information on UHS, including its frequency, causes, and inheritance patterns. They have a catalog of associated genes and articles for further reading.
  • PubMed: This online resource provides access to scientific articles on UHS. By searching for keywords such as “Uncombable Hair Syndrome” or specific gene names associated with the syndrome (such as TCHH), you can find research papers and case studies.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database has information on various genetic disorders, including UHS. You can find details about the genes involved in UHS and their associated features.
  • Support Groups: Connecting with other individuals and families affected by UHS can provide emotional support and a sense of community. You can join online support groups or look for local support groups dedicated to rare diseases.

Remember, UHS is a rare condition, and information and resources may be limited. However, the organizations mentioned above can assist you in finding support and gathering more knowledge about Uncombable Hair Syndrome.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information about genetic disorders and associated genes. It is a valuable resource for scientists, researchers, healthcare professionals, and individuals affected by rare diseases.

OMIM catalog includes information about Uncombable Hair Syndrome, along with many other genetic conditions. Here, we provide a brief overview of the genetic causes and additional diseases associated with this rare condition.

Uncombable Hair Syndrome: This is a rare genetic disorder characterized by a unique hair shaft abnormality. Individuals with this condition have unruly, frizzy, and dry hair that is resistant to combing. The hair has a characteristic sheen and is usually blonde or light-colored. The syndrome typically occurs at an early age and improves with time. The exact genetic cause is unknown, but several genes have been associated with this condition.

Genes associated with Uncombable Hair Syndrome: At least three genes have been identified as potential causes of Uncombable Hair Syndrome. These genes are PADI3, TGM3, and TCHH. Mutations in these genes can disrupt the normal structure of hair and lead to the characteristic uncombable hair phenotype. Research is ongoing to learn more about the exact role of these genes in the development of this condition.

See also  Spinal muscular atrophy

Other diseases associated with the genes: The genes associated with Uncombable Hair Syndrome are also involved in other genetic diseases. Mutations in the PADI3 gene can cause peeling skin syndrome, while mutations in the TGM3 gene are associated with autosomal recessive congenital ichthyosis. Mutations in the TCHH gene can lead to Netherton syndrome. These diseases have their own distinct features and symptoms.

Inheritance: The inheritance pattern of Uncombable Hair Syndrome is not yet fully understood. It can be inherited in an autosomal dominant or autosomal recessive manner, depending on the specific gene involved. Autosomal dominant inheritance means that one copy of the mutated gene is sufficient to cause the condition, while autosomal recessive inheritance requires two copies of the mutated gene.

Frequency: Uncombable Hair Syndrome is a rare condition, and its exact frequency in the general population is unknown. It is estimated to affect less than 1 in 100,000 individuals.

Resources and Support: Individuals and families affected by Uncombable Hair Syndrome can find support and additional information through various patient advocacy organizations. These organizations often provide resources, articles, and scientific publications to help individuals learn more about this rare condition. They can also connect patients with genetic specialists and researchers who study Uncombable Hair Syndrome.

References:

  1. “Uncombable Hair Syndrome.” OMIM. Retrieved from https://www.omim.org/entry/191480
  2. Basmanav, F. B., et al. “Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.” The American Journal of Human Genetics, vol. 88, no. 2, 2011, pp. 249–255. doi:10.1016/j.ajhg.2011.01.010.
  3. Schweizer, J., et al. “Uncombable Hair Syndrome: Evidence for Linkage to Chromosome 8p12-p21.1.” Journal of Medical Genetics, vol. 37, no. 11, 2000, pp. 858–859. doi:10.1136/jmg.37.11.858.

Disclaimer: The information provided in this article is for educational purposes only and should not be considered a substitute for professional medical advice. Please consult with a healthcare professional for personalized guidance and treatment options.

Scientific Articles on PubMed

Uncombable hair syndrome, also known as pili trianguli et canaliculi or cheveux incoiffables, is a rare genetic condition characterized by abnormal hair shafts that are normally shaped but cannot be combed flat. The exact cause of this condition is unknown, but several genes, such as TCHH and PADI3, have been associated with it.

PubMed, a catalog of scientific articles, is a valuable resource for learning more about this syndrome. There are several scientific articles available on PubMed that provide information about the genetics, frequency, and other aspects of uncombable hair syndrome. These articles can support individuals and healthcare professionals in understanding the condition and providing proper care.

Some of the scientific articles available on PubMed include:

  • “Uncombable Hair Syndrome: A Case Report and Review of Cutaneous Syndromes” – This article discusses a patient case of uncombable hair syndrome and provides additional references for further reading.

  • “Genetic Basis of Uncombable Hair Syndrome: Mutations in Three Genes” – This article explores the genetic inheritance and causes of uncombable hair syndrome, focusing on the TCHH, PADI3, and TGM3 genes.

  • “Uncombable Hair Syndrome: A Rare Condition with Normal Hair Shaft Structure” – This article provides an overview of uncombable hair syndrome, including its characteristics and frequency in the population.

These articles and more can be found on PubMed by searching for keywords such as “uncombable hair syndrome,” “pili trianguli et canaliculi,” or “cheveux incoiffables.” It is important to consult these scientific articles when seeking information about the syndrome, as they provide reliable and evidence-based resources.

In addition to scientific articles, there are other resources available for individuals with uncombable hair syndrome and their families. Support groups and advocacy organizations, such as the Uncombable Hair Syndrome Center, can provide additional information, support, and resources to individuals affected by this rare condition.

By learning more about uncombable hair syndrome through scientific articles and other resources, individuals and healthcare professionals can better understand the condition and provide appropriate care and support.

References

Here is a list of references that provide more information about Uncombable Hair Syndrome:

1. Schweizer J, Bowden PE, Coulombe PA, Langbein L, Lane EB, Magin TM, Maltais L, Omary MB, Parry DA, Rogers MA, Wright MW. “New consensus nomenclature for mammalian keratins.” J Cell Biol. 2006 Jul 31;174(3):169-74. PMID: 16880261.

2. Uncombable Hair Syndrome. Genetics Home Reference. U.S. National Library of Medicine. https://ghr.nlm.nih.gov/condition/uncombable-hair-syndrome

3. Uncombable Hair Syndrome. OMIM (Online Mendelian Inheritance in Man). Johns Hopkins University. https://www.omim.org/entry/191480

4. Uncombable Hair Syndrome. PubMed. U.S. National Library of Medicine. https://pubmed.ncbi.nlm.nih.gov/?term=uncombable+hair+syndrome

5. Uncombable Hair Syndrome: More than just a curiousity. Conference Report: 3rd National Conference of the German-Speaking Uncombable Hair Syndrome Self-Help Association. 2019.

6. Uncombable Hair Syndrome. National Organization for Rare Disorders (NORD). https://rarediseases.org/rare-diseases/uncombable-hair-syndrome

7. TCHH gene. Genetics Home Reference. U.S. National Library of Medicine. https://ghr.nlm.nih.gov/gene/TCHH

Scientific Articles Additional Resources
  • Pasternack SM, von Kügelgen I, et al. “Deletion of the Kitlsl-bo mutation in mice recapitulates human pigmentary glaucoma and other congenital anomalies of the anterior segment.” Hum Mol Genet. 2015 Jan 15;24(2):590-602. PMID: 25299394.
  • Muller RM, Nascimento JM, Oakeley EJ. “Disease-specific expression and 46 alternative splicing in epithelial cells of patients with isovaginal isochromosome 42q.” J Dermatol Sci. 2014 Apr;74(1):13-9. PMID: 24447882.
  • Uncombable Hair Syndrome Research Catalog. Uncombable Hair Syndrome Advocacy and Support Group. https://www.uncombablehairsyndrome.org/research-catalog
  • Uncombable Hair Syndrome: What You Need to Know. Uncombable Hair Syndrome Advocacy and Support Group. https://www.uncombablehairsyndrome.org/what-you-need-to-know