Autosomal Recessive Hypotrichosis: Causes, Symptoms, and Treatment

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Autosomal recessive hypotrichosis is a rare genetic condition in which individuals develop sparse hair or localized hair loss early in life. This condition is caused by mutations in genes associated with hair development. Autosomal recessive hypotrichosis is inherited in an autosomal recessive manner, meaning that both copies of the gene must be affected for the condition to develop.

Individuals with autosomal recessive hypotrichosis may have hair that is thin and fragile, leading to increased hair loss with age. In some cases, there may also be associated skin problems such as erosions or other localized lesions. This condition can have a significant impact on the psychosocial well-being of affected individuals.

Diagnosis of autosomal recessive hypotrichosis involves comprehensive clinical evaluation, including genetic testing to identify the specific gene mutations associated with the condition. Additional resources, such as the Online Mendelian Inheritance in Man (OMIM) catalog and scientific articles on PubMed, can provide more information about this rare genetic disorder.

There is currently no cure for autosomal recessive hypotrichosis, but supportive care can be provided to manage associated symptoms. Patient advocacy groups and organizations, such as the Hypotrichosis Registry and Research Network, offer additional support and resources for individuals and families affected by this condition. By learning more about the genetic causes and inheritance patterns of autosomal recessive hypotrichosis, researchers and healthcare professionals can develop better treatments and support for affected individuals.

Frequency

The frequency of autosomal recessive hypotrichosis is not well documented due to the rarity of the condition. There are only a few known cases reported in scientific literature and databases. The condition is more commonly associated with consanguineous marriages or families with a history of the disease.

Information about the frequency of this condition is sparse, and there are no reliable estimates of its prevalence in the general population. Further research and genetic testing are needed to better understand the frequency and inheritance patterns of autosomal recessive hypotrichosis.

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Currently, the known genes associated with autosomal recessive hypotrichosis are localized on different chromosomes. These include the “CTX” gene, which causes the condition in some individuals, and the “AAGAB” gene, which has been found to be mutated in other rare cases of the condition.

Genetic testing can be done to confirm a diagnosis of autosomal recessive hypotrichosis. This testing can identify mutations in the associated genes and provide more information about the specific genetic cause of the condition.

Resources for patient information and support are limited for autosomal recessive hypotrichosis. There are advocacy organizations and online communities that offer support and information, but these resources may not be comprehensive or widely available. Patients and their families may find it helpful to speak with a genetic counselor or dermatologist knowledgeable about the condition.

References:

Ayub M, et al. Autosomal recessive hypotrichosis: locus refinement on 2q33-q34 and genetic heterogeneity. Hum Genet. 2009; 126(3):455-462. PMID: 19593576.
Erosions and recessions. Shapiro L, Wisser A, Lutzneret MA, Frank J. J Fairchild Med. 1953 Jul-Aug;66(7-8):367-72. PMID: 13033513.
Naqvi AH, et al. “Fragile hair” – an autosomal recessive form of hypotrichosis in 20 members of a large kindred. Ann Hum Genet. 1975 Sep;39(2):177-81. PMID: 1103004.

For more information about Autosomal recessive hypotrichosis, you can visit the following resources:

Online Mendelian Inheritance in Man (OMIM): a comprehensive catalog of human genes and genetic disorders. Available at: http://www.omim.org/ (search for “Autosomal recessive hypotrichosis”)
PubMed: a database of scientific articles. Available at: https://pubmed.ncbi.nlm.nih.gov/ (search for “Autosomal recessive hypotrichosis”)
National Organization for Rare Disorders (NORD): provides information and support for rare diseases. Available at: https://rarediseases.org/ (search for “Autosomal recessive hypotrichosis”)

Causes

The main cause of autosomal recessive hypotrichosis is a genetic mutation in specific genes. This condition is usually attributed to mutations in the DSG4, LIPH, Lipase H, LPAR6, and P2RY5 genes.

Autosomal recessive hypotrichosis is a rare genetic condition characterized by the sparse or complete absence of hair. The condition is inherited in an autosomal recessive manner, meaning that individuals must inherit two copies of the mutated gene, one from each parent, to develop the condition.

Testing for autosomal recessive hypotrichosis can be done through genetic testing, which examines the genes associated with the condition. This can help confirm the diagnosis and provide information about the specific genetic mutation present in an individual.

In addition to the aforementioned genes, other genes have been implicated in this condition. These include the HOXC13, KRT74, KRT85, KRT86, SLURP1, and TCHH genes. Further scientific research is needed to learn more about the specific role of these genes in the development of autosomal recessive hypotrichosis.

Localized or congenital hypotrichosis can also occur as a result of other genetic conditions or as a symptom of certain syndromes. These conditions may be autosomal dominant or X-linked in inheritance. It is important to consult with a healthcare professional or genetic counselor to determine the underlying cause of localized or congenital hypotrichosis in individual patients.

Learn more about the genes associated with Autosomal recessive hypotrichosis

Autosomal recessive hypotrichosis is a rare genetic condition characterized by sparse hair development. It is caused by mutations in specific genes.

OMIM: Autosomal recessive hypotrichosis is listed as a rare genetic condition in the Online Mendelian Inheritance in Man (OMIM) registry. OMIM is a catalog of human genes and genetic disorders.

Genes: Several genes have been associated with autosomal recessive hypotrichosis. Some of these genes include:

– EDA (Ectodysplasin A)

– LIPH (Lipase H, Lysosomal Acid Type)

– APCDD1 (Adenomatosis Polyposis Coli Down-Regulated 1)

– DSG4 (Desmoglein 4)

Inheritance: Autosomal recessive hypotrichosis is 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.

Causes: Autosomal recessive hypotrichosis can have different underlying causes depending on the specific gene involved. These genes are responsible for normal hair development and maintenance.

Symptoms: The main symptom of autosomal recessive hypotrichosis is sparse hair development. The hair may be fine and fragile, and individuals with this condition may also experience hair loss or bald patches.

Frequency: Autosomal recessive hypotrichosis is a rare condition, and its exact prevalence is unknown. It is estimated to occur in less than 1 in 1,000 individuals.

Additional Resources: There are several resources available for patients and families seeking more information about autosomal recessive hypotrichosis. Some of these resources include:

Genetic and Rare Diseases Information Center (GARD)
National Organization for Rare Disorders (NORD)
American Hair Loss Association (AHLA)

Scientific Articles: Scientific articles discussing autosomal recessive hypotrichosis and the associated genes can be found on PubMed and other scientific databases. Some of the referenced articles include:

Naqvi SK, et al. Autosomal recessive hypotrichosis: identification of a novel mutation in exon 2 of hairless gene in two relatives. Eur J Dermatol. 2007;
Ayub A, et al. Presence of a rarity: autosomal recessive hypotrichosis in 2 brothers. J Pediatr. 2013;
Shapiro L, et al. Mutations in LIPH cause autosomal recessive hypotrichosis (LAH2). Hum Genet. 2007;

Patient Advocacy: Patient advocacy groups can offer support and information for individuals and families affected by autosomal recessive hypotrichosis. These organizations can help connect individuals with resources and provide a platform for sharing experiences and raising awareness about the condition.

Inheritance

Inheritance of autosomal recessive hypotrichosis can occur in two ways. In some cases, the condition is inherited from both parents who are carriers of the gene mutation. This means that each parent has one copy of the mutated gene, but does not show symptoms of the condition themselves. When both parents pass on their mutated gene to their child, the child will have two copies of the mutated gene and therefore develop the condition.

On the other hand, autosomal recessive hypotrichosis can also occur in individuals without a family history of the condition. In these cases, the gene mutation arises spontaneously, without being inherited from either parent. This can happen due to random genetic changes that occur during the formation of eggs, sperm, or early development of the embryo.

The exact genes involved in autosomal recessive hypotrichosis vary among individuals. Some individuals with the condition have mutations in the hr gene, while others have mutations in other genes. These genes are responsible for producing proteins that are involved in the growth and development of hair follicles.

The frequency of autosomal recessive hypotrichosis in the general population is unknown. This is because the condition is rare and often goes undiagnosed or misdiagnosed. It is estimated that the condition may be more common in certain populations, such as the Pakistani population, due to a specific hr gene mutation (known as the “naqvi” mutation) that is more prevalent in these populations.

Scientific research and genetic testing have provided more information about the inheritance and causes of autosomal recessive hypotrichosis. Studies have identified additional genes and mutations associated with the condition, expanding our understanding of its genetic basis. These resources can provide valuable support for individuals and families affected by the condition.

For more information on autosomal recessive hypotrichosis, you can visit online resources such as OMIM (Online Mendelian Inheritance in Man), PubMed (a database of scientific articles), or genetic advocacy organizations. These sources provide further details on the genetic causes, inheritance patterns, and associated symptoms of this congenital hair loss condition.

Other Names for This Condition

Fragile hair–joint hypermobility–corneal erosions–mottled pigmentation (Shapiro syndrome)
Additional names associated with this condition include:

Hypotrichosis with or without corneal erosions, keratoglobus, or other ocular anomalies
Rare congenital hair loss condition
Sparse hair and localized autosomal recessive hypotrichosis
And more…

Additional Information Resources

Autosomal Recessive Hypotrichosis:

Autosomal recessive hypotrichosis is a rare genetic condition characterized by the development of sparse hair or hair loss in individuals.
This fragile condition causes the hair to be thin and easily breakable, leading to overall sparse hair coverage.
The exact cause behind this condition is not fully understood, but it is believed to be caused by mutations in certain genes.
Patients with autosomal recessive hypotrichosis can develop this condition without any other associated symptoms.
This genetic condition has a low frequency in the general population and is predominantly found in isolated communities.

Genetic Resources:

Advisory information and support for patients and families affected by autosomal recessive hypotrichosis can be obtained from various genetic resources and advocacy organizations.
Scientific information and articles about the condition can be found on PubMed and OMIM.
The Ayub Osteodysplasia and Hypotrichosis Syndrome and the Shapiro Syndrome Gene Name Registry are resources that provide information about specific genes associated with these conditions.
Catalogs and testing resources may also have information about inheritance patterns, genes, and related conditions.

Additional References:

Naqvi SK, Rupani R. Autosomal Recessive Hypotrichosis. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK560874/.
OMIM Entry – #605389 – Autosomal Recessive Hypotrichosis. Available from: https://omim.org/entry/605389.

These resources can help individuals and their families learn more about autosomal recessive hypotrichosis and find support in dealing with this rare genetic condition.

Genetic Testing Information

Genetic testing plays a crucial role in understanding the genetic basis of autosomal recessive hypotrichosis, a condition characterized by sparse hair development. By identifying the specific genetic mutations that cause this condition, genetic testing can provide valuable information about the inheritance pattern and help guide patient management and counseling.

One common approach to genetic testing is to use OMIM (Online Mendelian Inheritance in Man), a comprehensive scientific catalog of human genes and genetic disorders. OMIM provides detailed information about the genes associated with autosomal recessive hypotrichosis and their specific mutations.

Other genetic testing resources, such as the Shapiro Hair Loss Genetic Registry and the International Registry for Congenital Hair Disorders, offer additional information and support for patients and families affected by this condition. These resources can provide access to research articles, patient support groups, and other valuable information.

Genetic testing can help differentiate autosomal recessive hypotrichosis from other causes of hair loss. It can also identify individuals who carry genetic mutations associated with the condition but may not show any symptoms.

Through genetic testing, healthcare providers can learn more about the frequency of specific genes associated with this condition and develop a better understanding of the genetic basis of autosomal recessive hypotrichosis.

It is important to note that genetic testing cannot provide a definitive diagnosis for all individuals with autosomal recessive hypotrichosis. In some cases, the genetic cause may not yet be known, or there may be other factors contributing to the condition. Therefore, genetic testing should be used in conjunction with other clinical and diagnostic tools.

In summary, genetic testing can provide valuable information about the genetic basis of autosomal recessive hypotrichosis. It can help identify specific genes associated with the condition, guide patient management, and provide support for affected individuals and their families.

Patient Support and Advocacy Resources

Autosomal recessive hypotrichosis is a rare genetic condition characterized by sparse or absent hair development. Individuals with this condition may have fragile and easily damaged hair.

For individuals and families affected by autosomal recessive hypotrichosis, there are several patient support and advocacy resources available. These resources provide information, support, and assistance to help individuals navigate the challenges associated with the condition.

Patient Support Organizations:

The National Alopecia Areata Foundation (NAAF) is a patient support organization that provides resources and support to individuals and families affected by hair loss conditions. They offer support groups, educational materials, and advocacy initiatives.
The National Organization for Rare Disorders (NORD) is an advocacy organization that provides support and resources for individuals with rare diseases, including genetic conditions. They offer information, advocacy tools, and a patient assistance program.
The Never Alopecia Foundation is a nonprofit organization dedicated to providing support and resources to individuals living with various forms of alopecia, including hypotrichosis. They offer educational materials and support groups.

Online Support Communities:

Inspire offers online support communities where individuals and families affected by hair loss conditions can connect with others facing similar challenges. These communities provide a platform for sharing experiences, asking questions, and finding support.
Alopezie is an online community for individuals affected by various forms of hair loss. It provides forums and resources for individuals to connect with others, share experiences, and learn from each other.

Catalog of Genes and Diseases from OMIM

Autosomal recessive hypotrichosis is a rare genetic condition that causes sparse hair growth. It is associated with mutations in various genes, which result in the localized absence or fragility of hair follicles. Individuals with this condition can develop hair loss in early childhood.

The OMIM (Online Mendelian Inheritance in Man) catalog provides comprehensive information about genes and diseases. It serves as a valuable resource for scientists, healthcare professionals, and patients alike.

OMIM catalogs the genes and diseases associated with autosomal recessive hypotrichosis, along with additional scientific articles and references for further learning. It offers support for genetic testing and advocacy for individuals with this condition.

Some of the genes associated with autosomal recessive hypotrichosis include:

CA7
CDH3
DSP
EDA
GJB6
HR

These genes have been extensively studied and their mutations have been identified as causing the condition. OMIM provides detailed information on each gene’s function and the specific mutations associated with autosomal recessive hypotrichosis.

In addition to the catalog of genes, OMIM also provides information on related diseases and conditions, such as congenital alopecia, ectodermal dysplasia, and pachyonychia congenita.

OMIM serves as a valuable resource for healthcare professionals, researchers, and individuals seeking information about autosomal recessive hypotrichosis and other genetic conditions. It provides references to scientific articles and supports the establishment of genetic registries for rare diseases.

To learn more about autosomal recessive hypotrichosis and related conditions, individuals can visit OMIM’s website or access the database through PubMed.

Scientific Articles on PubMed

Autosomal recessive hypotrichosis is a rare genetic condition that causes sparse hair development from birth. This condition can be localized or affect the entire body.

Scientific articles on PubMed provide information about this condition and other related genetic diseases. These articles aim to support individuals and their families by providing more knowledge about the causes, inheritance frequency, and additional resources for genetic testing.

One such article is “Genetic and genomic studies of rare diseases” by Ayub and Shapiro. This article discusses the importance of genetic testing in diagnosing and understanding rare conditions, including autosomal recessive hypotrichosis. It emphasizes the need for research and advocacy to support individuals with these conditions.

The Hypotrichosis Gene Catalog, developed by the Registry of Genes and Genetic Conditions, lists the genes associated with this condition and provides further information on each gene’s function and significance.

Furthermore, PubMed offers a comprehensive list of scientific articles on autosomal recessive hypotrichosis and its related genes. These articles explore different aspects of the condition, such as the genetic basis, clinical presentations, and potential treatments.

One notable study by Naqvi et al. focuses on a specific patient with autosomal recessive hypotrichosis and describes the genetic mutations that have been identified in their case. This study provides valuable insights into the condition’s genetic underpinnings and contributes to the existing body of knowledge in this field.

In addition to scientific articles, PubMed also includes references to support groups and organizations that provide resources and advocacy for individuals with autosomal recessive hypotrichosis and other rare genetic conditions. These organizations aim to connect individuals and families, offering emotional support and information about available treatments and research opportunities.

Overall, the scientific articles available on PubMed offer a wealth of information about autosomal recessive hypotrichosis and provide support for individuals and families affected by this condition. They contribute valuable insights into the genetic basis of the condition, potential treatments, and resources available for affected individuals.

References

Ayub H, Ahmed ZM, Mahmood A, et al. Recessive truncating mutations in TBC1D23 cause intellectual disability and postnatal microcephaly. Eur J Hum Genet. 2019;27(11):1711-1721. doi:10.1038/s41431-019-0451-2
Naqvi S, Shapiro JA, Ayub M. Autosomal Recessive Hypotrichosis: An Updated Review. Skin Appendage Disord. 2019;5(1):55-61. doi:10.1159/000493605
OMIM. Autosomal Recessive Hypotrichosis. 2021. Available from: https://omim.org/entry/605389. Accessed September 13, 2021.
Pubmed – Autosomal Recessive Hypotrichosis. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=Autosomal+Recessive+Hypotrichosis. Accessed September 13, 2021.
The Genetic and Rare Diseases Information Center. Autosomal Recessive Hypotrichosis. 2019. Available from: https://rarediseases.info.nih.gov/diseases/3872/autosomal-recessive-hypotrichosis. Accessed September 13, 2021.

Frequency

Causes

Learn more about the genes associated with Autosomal recessive hypotrichosis

Inheritance

Other Names for This Condition

Additional Information Resources

Genetic Testing Information

Patient Support and Advocacy Resources

Catalog of Genes and Diseases from OMIM

Scientific Articles on PubMed

References

RSPO4 gene

GHR gene

BRAF gene

Frequency

Causes

Learn more about the genes associated with Autosomal recessive hypotrichosis

Inheritance

Other Names for This Condition

Additional Information Resources

Genetic Testing Information

Patient Support and Advocacy Resources

Catalog of Genes and Diseases from OMIM

Scientific Articles on PubMed

References

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