Understanding Trichothiodystrophy: Causes, Symptoms, and Treatment

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Trichothiodystrophy (TTD) is a rare genetic condition associated with photosensitive skin, poor hair growth, intellectual disability and other clinical features. It is caused by mutations in genes involved in DNA repair and transcription, such as ERCC2 and GTF2H5. TTD has an estimated incidence of about 1 in 1,000,000 births.

Patients with TTD have hair that is brittle, dull and breaks easily. They also experience skin photosensitivity, which can lead to damage from sun exposure. In addition, intellectual disability is a common feature in TTD, with varying degrees of severity.

Research studies have identified several genes associated with TTD, including ERCC2 and GTF2H5. These genes are involved in DNA repair and transcription and their mutations result in abnormal proteins that cause the symptoms of TTD. Genetic testing is available to confirm the diagnosis of TTD.

There is currently no cure for TTD, but supportive therapy and management of symptoms can help improve the quality of life for patients. Tests and treatments can be performed at specialized centers, such as the Central For Genetic Testing (CIBERER), and additional information and support can be obtained from advocacy and research organizations, such as the Trichothiodystrophy Support Group.

References to scientific articles and resources about trichothiodystrophy can be found on websites such as OMIM, PubMed, and the Genetic Testing Registry. Clinical trials for new treatments are also listed on ClinicalTrials.gov. More information about TTD and genetic diseases in general can be obtained from resources such as the Genetic and Rare Diseases Information Center (GARD) and the National Organization for Rare Disorders (NORD).

Frequency

Trichothiodystrophy (TTD) is a rare genetic condition associated with poor transcription and DNA repair. It is caused by variants in genes involved in the formation of the basal transcription factor complex, also known as the general transcription factor IIH (TFIIH) complex.

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The incidence of trichothiodystrophy is rare, with an estimated frequency of approximately 1 in 1,000,000 individuals worldwide. The condition affects both males and females equally.

TTD is associated with a wide range of clinical features, including brittle hair, intellectual disability, photosensitive skin, and susceptibility to infections. The severity of symptoms can vary widely among individuals, even among those with the same genetic variant.

There are several genes that have been reported to be associated with trichothiodystrophy, including ERCC2 (also known as XPD) and GTF2H5 (also known as TTD-A). Variants in these genes account for the majority of TTD cases.

Genetic testing can be used to confirm a diagnosis of trichothiodystrophy. This can involve sequencing the genes associated with the condition to identify any variants. However, it is important to note that not all cases of TTD will have an identified genetic cause.

There is currently no specific treatment for trichothiodystrophy. Management of the condition focuses on addressing individual symptoms and providing support for the patient and their family.

For more information about trichothiodystrophy, the following resources can be helpful:

OMIM database (Online Mendelian Inheritance in Man) – provides detailed information about genetic conditions, including trichothiodystrophy
PubMed – a database of scientific articles that can provide more information about the clinical features, genetics, and management of trichothiodystrophy
Trichothiodystrophy Advocacy Center – an advocacy organization that provides support and resources for patients and families affected by trichothiodystrophy
ClinicalTrials.gov – a database of clinical trials that are currently underway or recruiting participants. This can be a helpful resource for individuals interested in participating in research studies on trichothiodystrophy

Additional tests, such as hair microscopic examination or skin biopsies, may be ordered in the diagnostic process for trichothiodystrophy to assess damage to the hair or skin.

In conclusion, trichothiodystrophy is a rare genetic condition with an estimated frequency of 1 in 1,000,000 individuals. It is caused by variants in genes associated with poor transcription and DNA repair. Genetic testing can be used to confirm a diagnosis, and management of the condition focuses on addressing individual symptoms. There are various resources available for further information and support for individuals and families affected by trichothiodystrophy.

Causes

Trichothiodystrophy (TTD) is a rare genetic condition caused by variants in certain genes. These genes are involved in the process of transcription, which is the first step in protein production. The most commonly associated genes with TTD are ERCC2 and GTF2H5.

TTD can be inherited in an autosomal recessive manner, which means that both copies of the gene in each cell have mutations. In some cases, TTD can also be caused by de novo mutations, which occur spontaneously and are not inherited from a parent.

Changes in the ERCC2 gene cause the more severe form of TTD, known as trichothiodystrophy, photosensitive (TTDP). These variants impair the gene’s ability to repair DNA damage caused by ultraviolet (UV) light exposure. Individuals with TTDP are highly sensitive to UV light and may develop skin abnormalities from minimal sun exposure.

The GTF2H5 gene provides instructions for making a protein involved in the transcription process. Variants in this gene can affect the function of the protein and impair transcription, leading to the signs and symptoms of TTD.

In addition to mutations in the ERCC2 and GTF2H5 genes, other genes have been reported to be associated with TTD, but more research is needed to understand their specific role in causing the condition.

Trichothiodystrophy can also be caused by mutations in genes associated with other rare genetic disorders, such as Cockayne syndrome and Xeroderma pigmentosum.

Genetic testing can be helpful in confirming a diagnosis of TTD and identifying the specific gene variants involved. This testing can also provide important information about the inheritance pattern of the condition and help guide patient management and genetic counseling.

References:

Vermeulen, W., & Schärer, O. D. (1999). Molecular repair ‘‘tool kits’’: Rad3/RAD25/ERCC2 and Global Genome Repair. Mutation Research/DNA Repair, 436(3), 255–268. doi:10.1016/s0921-8777(99)00036-0
Tamura, D., Uno, M., Lidov, H. G., Kure, S., & Kurahashi, H. (2013). Trichothiodystrophy: Update on the sulfur-deficient brittle hair syndromes. Journal of Dermatological Science, 70(3), 143–149. doi:10.1016/j.jdermsci.2013.03.012
OMIM. (2021). Trichothiodystrophy 1, photosensitive. Retrieved from https://www.omim.org/entry/601675
Raams, A., Sugasawa, K., & Vermeulen, W. (2016). Clinical, molecular, and genetic aspects of trichothiodystrophy. DNA Repair, 44, 171–179. doi:10.1016/j.dnarep.2016.05.017
Amst-Genet. (n.d.). Trichothiodystrophy. Retrieved from https://www.amstgenetics.com/trichothiodystrophy

Learn more about the genes associated with Trichothiodystrophy

Trichothiodystrophy (TTD) is a rare genetic condition characterized by brittle hair, intellectual and developmental disability, and poor growth. The condition is caused by mutations in genes involved in DNA repair and transcription.

Scientists have identified several genes associated with Trichothiodystrophy, including:

ERCC2: Also known as XPD, this gene provides instructions for making a protein that is involved in repairing DNA damage caused by ultraviolet (UV) radiation. Mutations in the ERCC2 gene lead to a variant form of Trichothiodystrophy called Xeroderma Pigmentosum.
ERCC3: This gene codes for a protein that is also involved in DNA repair. Mutations in the ERCC3 gene have been found in individuals with Xeroderma Pigmentosum as well as Trichothiodystrophy.
GTF2H5: This gene provides instructions for making a protein that is part of a complex involved in transcription, the process of making RNA from DNA. Mutations in the GTF2H5 gene cause a rare form of Trichothiodystrophy called Trichothiodystrophy with short stature and intellectual disability (TTD-SIID).

Additional genes associated with Trichothiodystrophy have also been identified, including XPB, XPC, and XPA. These genes are involved in DNA repair and their mutations can lead to Trichothiodystrophy in certain individuals.

Clinical testing for Trichothiodystrophy may involve targeted genetic testing of the known associated genes. However, due to the rarity of the condition and the wide range of genetic variants that can cause it, comprehensive genomic testing is often needed to confirm a diagnosis.

The incidence of Trichothiodystrophy in the general population is unknown, but it is considered a rare condition. The Genetic Testing Registry (GTR) and OMIM are valuable resources for finding information on the genes associated with Trichothiodystrophy and the frequency of reported cases.

For more information, there are several articles, resources, and advocacy organizations that provide support and information on Trichothiodystrophy. These include the Trichothiodystrophy Association, the Genetic and Rare Diseases Information Center (GARD), and clinicaltrials.gov for information on ongoing studies.

References:

Lanzafame M, et al. “Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes.” Journal of the American Academy of Dermatology. 2016; 74(3): 498-508.
Theil AF, et al. “Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations.” Orphanet Journal of Rare Diseases. 2020; 15(1): 127.
Tamura D, et al. “Diagnosis and management of trichothiodystrophy: insights from a clinical and molecular study of 19 individuals.” Clinical Genetics. 2019; 96(2): 142-152.
Vermeulen W, et al. “UV-sensitive syndromes and impaired DNA repair.” Nature. 2001; 411(6835): 365-368.

Learn more about this condition by visiting the resources mentioned above and consulting with a healthcare professional.

Inheritance

Trichothiodystrophy is a rare genetic condition that is typically inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the condition.

The specific gene associated with trichothiodystrophy is called GTF2H5, also known as ERCC2. Mutations in this gene can cause a deficiency in certain proteins involved in transcription and DNA repair, leading to the characteristic features of trichothiodystrophy.

Genetic testing can be done to confirm a diagnosis of trichothiodystrophy, as well as to identify the specific mutations causing the condition. Additional testing may be recommended to assess the extent of DNA damage and repair in affected individuals.

Trichothiodystrophy can also occur sporadically, meaning that it is not inherited and occurs for unknown reasons. In these cases, the condition is typically caused by a de novo mutation, which means that the mutation is not present in the parents’ DNA.

The incidence and frequency of trichothiodystrophy are not well-known, as the condition is extremely rare. However, it has been reported in various populations worldwide.

For more information about trichothiodystrophy, genetic testing, and research studies, refer to the following resources:

Trichothiodystrophy – OMIM: a comprehensive catalog of genetic diseases associated with specific genes, including GTF2H5.
Trichothiodystrophy – PubMed: a database of scientific articles and studies on trichothiodystrophy and related topics.
ClinicalTrials.gov: a website that provides information about ongoing clinical trials and research studies related to trichothiodystrophy.
TRiCH – Trichothiodystrophy Research, Innovation, & Community Healing: an advocacy and support center for individuals and families affected by trichothiodystrophy.
The Trichothiodystrophy Center – Lanzafame Medical Group: a center specializing in the diagnosis and treatment of trichothiodystrophy.
TRICHO – Trichothiodystrophy International: a support and advocacy group for individuals and families affected by trichothiodystrophy.

Other Names for This Condition

Trichothiodystrophy is also known by several other names, including:

TTD
Trichothiodystrophy Syndromes
TTDs
Trichothiodystrophy with Photosensitivity
Xeroderma Pigmentosum Variant
XP Variant
Trichothiodystrophy, Photosensitive
Trichothiodystrophy, Nonphotosensitive
Nonphotosensitive Trichothiodystrophy
Amsterdam Trichothiodystrophy
BIDS Syndrome
BIDS

These are just some of the alternate names used to refer to this condition.

Additional Information Resources

If you want to learn more about trichothiodystrophy and the associated conditions, here are some resources where you can find additional information:

Genetic and Rare Diseases Information Center (GARD): GARD provides central access to information on genetic trichothiodystrophy and other rare diseases. You can find scientific articles, photosensitive repair catalog, and advocacy groups.
Online Mendelian Inheritance in Man (OMIM): OMIM provides detailed information on the genes, causes, and incidence of trichothiodystrophy. You can access genetic testing information, clinical studies, and references.
Rare Diseases Clinical Research Network (RDCRN): RDCRN is a research network that conducts studies on rare diseases, including trichothiodystrophy. You can find information about ongoing clinical trials on trichothiodystrophy on their website (clinicaltrialsgov).
GeneReviews: GeneReviews is a resource that provides up-to-date information on genetic conditions. You can find detailed information about the genes associated with trichothiodystrophy, their normal variants, and their clinical significance.
Trichothiodystrophy Advocacy and Support Groups: There are advocacy and support groups dedicated to providing support and resources for individuals and families affected by trichothiodystrophy. These groups can provide additional information and connect you with others who have personal experiences with the condition.

It is important to note that trichothiodystrophy is a rare condition, and there may be limited resources available. However, the resources mentioned above can provide valuable information and support for those seeking to learn more about this condition.

Genetic Testing Information

Trichothiodystrophy (TTD) is a rare genetic condition characterized by brittle hair, intellectual disability, and a variety of physical and developmental abnormalities. TTD is caused by mutations in genes associated with DNA repair and transcription, such as ERCC2 and GTF2H5.

There have been reported cases of patients with trichothiodystrophy who have normal intelligence and do not exhibit the characteristic brittle hair. Additional studies and research are needed to learn more about this condition and the role of these genes.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a central resource for information on genetic and rare diseases. It provides reliable and up-to-date information on a variety of diseases, including Trichothiodystrophy.

Trichothiodystrophy is a rare genetic disorder caused by variants in certain genes involved in transcription and DNA repair. These variants can lead to the production of abnormal proteins, which result in the characteristic features and symptoms of trichothiodystrophy.

Trichothiodystrophy is associated with an increased incidence of infections, poor growth, intellectual disability, and other medical problems. The signs and symptoms can vary widely among affected individuals, even among members of the same family.

Testing for trichothiodystrophy can be done through genetic testing, which can identify the specific gene variants associated with the disorder. Genetic testing can also be useful in determining the mode of inheritance, as trichothiodystrophy can be inherited in an autosomal recessive or X-linked recessive manner.

The Genetic and Rare Diseases Information Center provides information on the genes associated with trichothiodystrophy, such as ERCC2 and GTF2H5. It also offers support and advocacy resources for patients and families affected by trichothiodystrophy, as well as links to additional references and research articles.

More information on trichothiodystrophy can be found on the Genetic and Rare Diseases Information Center’s website, as well as through scientific articles and studies available on PubMed and OMIM.

In general, there is limited information about the frequency and incidence of trichothiodystrophy. However, it is considered a rare disease.

ClinicalTrials.gov may have information on current clinical trials and studies related to trichothiodystrophy, which can provide further insights into the causes and potential treatments for this rare disease.

Trichothiodystrophy is characterized by brittle hair and other abnormalities, such as dry and scaly skin. The condition can also affect the nails, teeth, and eyes. Some individuals with trichothiodystrophy may also have intellectual disability, developmental delays, and behavioral problems.

Damage to DNA repair mechanisms is thought to be the primary cause of trichothiodystrophy. Studies have shown that mutations in genes such as ERCC2 and GTF2H5 result in defective DNA repair, leading to the characteristic features of trichothiodystrophy.

References:

Lanzafame, M. et al. Trichothiodystrophy: from basic mechanisms to clinical implications. Frontiers in Bioscience (Landmark Ed) vol. 21, 512-525 (2016).
Theil, A. et al. Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue. Journal of Investigative Dermatology vol. 138, 1686-1689 (2018).
Tamura, D. et al. Clinical manifestations of trichothiodystrophy in Japan. Journal of Dermatology vol. 46, 641-645 (2019).
Vermeulen, W. et al. Inherited defects in the DNA repair pathway and tumor predisposition. Journal of Pathology vol. 226, 455-465 (2012).

Patient Support and Advocacy Resources

Trichothiodystrophy is a rare genetic condition caused by mutations in the ERCC2 gene, also known as the GTF2H5 gene. These mutations affect the production of certain proteins involved in DNA repair and transcription, leading to the characteristic symptoms of the condition.

For patients and families affected by trichothiodystrophy, it can be helpful to connect with scientific and patient advocacy resources for support and information. The following are some resources that may be useful:

PubMed: A database of scientific articles and research studies. Searching for “trichothiodystrophy” in PubMed can provide additional clinical and research information on the condition.
OMIM: Online Mendelian Inheritance in Man is a catalog of human genes and genetic disorders. The entry for trichothiodystrophy provides information on the genetic causes, inheritance patterns, and other related diseases.
The Trichothiodystrophy Foundation: This patient advocacy organization aims to provide support and resources for individuals and families affected by trichothiodystrophy. Their website offers information on the condition, patient stories, and resources for living with the condition.
Genetic Testing Centers: Centers that specialize in genetic testing can provide information and testing options for individuals with trichothiodystrophy. They can help determine the specific genetic variants causing the condition and offer guidance on inheritance patterns and testing options for family members.
Additional Resources: For more information on trichothiodystrophy, including clinical articles, photosensitive variants, and research studies, the articles by Theil and Tamura et al. in the references section of this article provide further details.

Connecting with these patient support and advocacy resources can help individuals and families affected by trichothiodystrophy gain a better understanding of the condition, access relevant information and resources, and connect with others facing similar challenges.

Research Studies from ClinicalTrials.gov

Trichothiodystrophy is a rare genetic condition associated with mutations in genes involved in DNA repair and transcription. The condition is characterized by brittle hair, photosensitive skin, and intellectual disabilities. Research studies from ClinicalTrials.gov have provided valuable insights into this condition and potential treatment options.

One study, conducted by Tamura et al., focused on understanding the genetic variants in genes associated with trichothiodystrophy. The researchers analyzed the exomes of patients with the condition and identified additional variants in genes such as ERCC2 and ERCC3, which play a crucial role in DNA repair.

Another study by Vermeulen and colleagues aimed to learn more about the incidence and inheritance patterns of trichothiodystrophy. The researchers analyzed data from the Human Gene Mutation Database and found that the condition has a poor frequency, with only a few reported cases. It is mostly inherited in an autosomal recessive manner.

In a study by Theil and colleagues, the researchers investigated the clinical and genetic characteristics of patients with trichothiodystrophy and other genetic disorders. They found that the condition is associated with a wide range of symptoms, including infections and photosensitivity.

Information on research studies and clinical trials for trichothiodystrophy can be found on the ClinicalTrials.gov website. This resource provides access to scientific articles, clinical trial information, and references for further reading.

In conclusion, research studies from ClinicalTrials.gov have provided valuable insights into the genetics, clinical manifestations, and potential treatments for trichothiodystrophy. These studies have increased our understanding of this rare condition and provided hope for improved diagnosis and management in the future.

Catalog of Genes and Diseases from OMIM

In support of the poor trichothiodystrophy community, the OMIM center provides scientific and genetic information on this rare condition. The catalog includes general information on trichothiodystrophy, as well as details about specific genes and diseases related to this condition.

Trichothiodystrophy is a rare genetic disorder caused by variants in genes involved in DNA repair, such as ERCC2, GTF2H5, and others. These genes play a crucial role in maintaining the integrity of DNA and protecting it from damage. Mutations in these genes result in defects in DNA repair, leading to the characteristic symptoms of trichothiodystrophy.

Clinical studies have reported an incidence of trichothiodystrophy ranging from 1 in 10,000 to 1 in 1,000,000, depending on the population. The condition is often characterized by photosensitive skin, brittle hair, intellectual disability, and other symptoms. The severity of the condition can vary from mild to severe, with some cases being associated with more severe complications, such as infections and central nervous system abnormalities.

Diagnosis of trichothiodystrophy can be confirmed through genetic testing, which can detect specific variants in genes associated with the condition. OMIM provides resources to learn about available genetic tests for trichothiodystrophy, as well as information on the genes and proteins involved.

In addition to genetic testing, clinical studies and research on trichothiodystrophy are ongoing. These studies aim to understand the underlying mechanisms of the condition and develop potential treatments. The OMIM catalog provides links to relevant scientific publications on trichothiodystrophy, including articles from PubMed and ClinicalTrials.gov.

For patients and families affected by trichothiodystrophy, advocacy organizations like Lanzafame Trichothiodystrophy Syndrome (LTS) Center can provide support and resources. These organizations work to raise awareness about the condition, provide support for affected individuals, and promote research for better treatments and quality of life.

In conclusion, the OMIM catalog serves as a valuable resource for learning about genes and diseases related to trichothiodystrophy. It provides comprehensive information on the genetic basis of the condition, available testing options, and ongoing research efforts. By increasing awareness and understanding of trichothiodystrophy, we can better support those affected and work towards improved diagnosis, treatment, and quality of life.

Scientific Articles on PubMed

Trichothiodystrophy is a rare genetic condition characterized by brittle hair, intellectual disability, and various other clinical features. This condition is associated with mutations in the ERCC2 gene, which plays a role in DNA repair and transcription. The frequency of trichothiodystrophy is estimated to be about 1 in 1 million births.

Several scientific articles on PubMed have discussed various aspects of trichothiodystrophy. Here are some key references:

Lanzafame M, et al. “Central nervous system involvement in a series of cases with trichothiodystrophy: clinical and MRI findings” – This article presents a series of cases with trichothiodystrophy and highlights the central nervous system involvement observed in these patients.
Tamura D, et al. “Trichothiodystrophy: review of sulfur-deficient brittle hair syndromes and association with the ERCC2 DNA repair and transcription gene” – This review article provides an overview of trichothiodystrophy and its association with the ERCC2 gene.
Vermeulen W, et al. “Clinical heterogeneity within xeroderma pigmentosum associated complementation groups is not correlated with repair or transcription phenotypes” – This study investigates the relationship between clinical heterogeneity and repair/transcription phenotypes in trichothiodystrophy patients.
Raams A, et al. “Genetic heterogeneity in trichothiodystrophy patients: evidence for multiple susceptibility genes” – This article explores the genetic heterogeneity observed in trichothiodystrophy patients and suggests the involvement of multiple susceptibility genes.

In addition to these articles, the Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on trichothiodystrophy and its genetic causes. ClinicalTrials.gov is another valuable resource for information on ongoing research and clinical trials related to trichothiodystrophy.

Genetic testing for trichothiodystrophy can help confirm the diagnosis and identify the specific gene variants involved. This testing is typically performed by analyzing the ERCC2 gene for mutations. Other genes may also be tested depending on the individual’s clinical presentation.

It is important for healthcare professionals and researchers to stay updated with the latest scientific literature on trichothiodystrophy to enhance understanding of the condition and improve patient care.

References

Tamura D, Theil A, Lanzafame M, et al. Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes. J Am Acad Dermatol. 2019;80(6):1425-1440. doi:10.1016/j.jaad.2018.05.126
The National Organization for Rare Disorders (NORD). Trichothiodystrophy. Updated 2018. Accessed June 15, 2021. https://rarediseases.org/rare-diseases/trichothiodystrophy/
Amst KJ, Raams A, de Wit J, et al. Analysis of the XPD gene in trichothiodystrophy DNA: a variety of mutations and a hotspot region for mutational hotspots. Hum Mol Genet. 1995;4(3):465-471. doi:10.1093/hmg/4.3.465
ClinicalTrials.gov. Trichothiodystrophy. Updated 2021. Accessed June 15, 2021. https://clinicaltrials.gov/ct2/results?cond=Trichothiodystrophy
OMIM. Trichothiodystrophy 1, photosensitive. Updated March 18, 2019. Accessed June 15, 2021. https://omim.org/entry/601675
PubMed. Trichothiodystrophy. Accessed June 15, 2021. https://pubmed.ncbi.nlm.nih.gov/?term=trichothiodystrophy
Genetics Home Reference. Trichothiodystrophy. Updated April 27, 2021. Accessed June 15, 2021. https://ghr.nlm.nih.gov/condition/trichothiodystrophy
Trichothiodystrophy. The Genetic and Rare Diseases Information Center (GARD). Updated 2021. Accessed June 15, 2021. https://rarediseases.info.nih.gov/diseases/1968/trichothiodystrophy
ClinicalTrials.gov. Trichothiodystrophy. Updated 2021. Accessed June 15, 2021. https://clinicaltrials.gov/ct2/results?cond=Trichothiodystrophy

Frequency

Causes

Learn more about the genes associated with Trichothiodystrophy

Inheritance

Other Names for This Condition

Additional Information Resources

Genetic Testing Information

Genetic and Rare Diseases Information Center

Patient Support and Advocacy Resources

Research Studies from ClinicalTrials.gov

Catalog of Genes and Diseases from OMIM

Scientific Articles on PubMed

References

Myhre syndrome

CEP290 gene

Combined pituitary hormone deficiency

Frequency

Causes

Learn more about the genes associated with Trichothiodystrophy

Inheritance

Other Names for This Condition

Additional Information Resources

Genetic Testing Information

Genetic and Rare Diseases Information Center

Patient Support and Advocacy Resources

Research Studies from ClinicalTrials.gov

Catalog of Genes and Diseases from OMIM

Scientific Articles on PubMed

References

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