Nonsyndromic aplasia cutis congenita is a rare congenital condition characterized by the absence of skin, most commonly on the scalp, but can occur on other areas of the body as well. This condition can be caused by various factors, including genetic mutations or other unknown causes. The frequency of this condition is not well-established, but it is considered to be a rare condition.

There have been a few scientific articles published on nonsyndromic aplasia cutis congenita, providing information about the condition and potential genetic causes. One such article from PubMed suggests that this condition may be caused by mutations in certain genes. However, further research and genetic testing is needed to support these findings and identify the specific genes involved.

While nonsyndromic aplasia cutis congenita is a rare condition, it can have significant impacts on patient growth and development. Additionally, it can cause emotional and psychological stress for both the affected individual and their family. Therefore, resources for support, advocacy, and information are crucial for those affected by this condition.

The Online Mendelian Inheritance in Man (OMIM) database is a useful resource for finding more information about nonsyndromic aplasia cutis congenita, including scientific references, genetic testing information, and other related articles. Additionally, there are advocacy groups and centers that specialize in this condition, which can provide support and additional resources for affected individuals and their families.

Frequency

This condition is rare, with a reported frequency of approximately 1 in 10,000 live births. It is not commonly inherited, and the exact inheritance pattern is still not well understood. However, there have been cases of familial inheritance reported in the medical literature.

Due to the rarity of this condition, there is limited information and advocacy surrounding it. There may be additional defects or diseases associated with aplasia cutis congenita, and further testing may be required to determine if there is an underlying genetic cause or if it is caused by other factors.

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OMIM, a scientific database, includes information on aplasia cutis congenita and provides references to scientific articles and publications on the topic. Furthermore, PubMed, a resource for scientific literature, also contains rare case reports and scientific studies on this condition.

In terms of affected areas, aplasia cutis congenita can occur on the scalp, limbs, and trunk, among other places. The condition can vary in severity, with some cases involving only a small patch of missing skin, while others may have more extensive defects.

There are no specific genes currently associated with nonsyndromic aplasia cutis congenita, but ongoing research may help identify any potential genetic factors. Genetic testing may be recommended in certain cases to rule out other genetic conditions that could cause similar symptoms.

Overall, due to the rare frequency of nonsyndromic aplasia cutis congenita and limited resources available, patient support and advocacy organizations play a vital role in providing information and support to individuals and families affected by this condition.

Causes

  • Nonsyndromic aplasia cutis congenita is a rare congenital condition that causes a defect in the growth of skin on the scalp.
  • The exact cause of this condition is not known, but it is thought to be related to genetic factors.
  • There are several genetic causes that have been identified, including mutations in the TWIST1, MSX2, and IRF6 genes.
  • Inheritance of nonsyndromic aplasia cutis congenita is typically autosomal dominant, meaning that an affected individual has a 50% chance of passing the condition on to their children.

Additional rare causes of aplasia cutis congenita can include teratogens, such as maternal use of antithyroid drugs during pregnancy, vascular accidents (such as amniotic bands), or other unidentified factors.

For more information on the causes of nonsyndromic aplasia cutis congenita, you can refer to the following resources:

  1. PubMed: A search engine for scientific articles and references.
  2. OMIM: A catalog of human genes and genetic disorders with detailed information on the condition.
  3. National Center for Advancing Translational Sciences: A center within the National Institutes of Health that supports research on rare diseases.
  4. Patient advocacy groups: Non-profit organizations that provide support and resources for patients and families affected by rare conditions.

Inheritance

Non-syndromic aplasia cutis congenita is a rare congenital condition that can cause areas of skin to be missing at birth. The specific cause of this condition is unknown, but it is believed to be genetic in nature.

There are various genes that have been associated with this condition, but they have not been identified in all cases. Additional genetic testing can be done to determine if a specific gene mutation is the cause of the aplasia cutis congenita in a patient.

The inheritance pattern of this condition is not well understood. It can occur sporadically, meaning it is not inherited from either parent. In other cases, it may be inherited in an autosomal dominant or autosomal recessive manner, meaning it is passed down from one or both parents.

See also  ABCA12 gene

Because this condition is rare, there is limited information available on its frequency and inheritance patterns. However, there are advocacy groups and resources available to support patients and provide additional information on the genetic causes of aplasia cutis congenita. These resources include the Online Mendelian Inheritance in Man (OMIM) database, which provides a catalog of genetic conditions and their associated genes, as well as articles and references on the topic available on PubMed.

Other Names for This Condition

  • Nonsyndromic aplasia cutis congenita
  • Congenital scalp defect
  • Aplasia cutis congenita
  • Congenital absence of skin
  • Scalp defect
  • Acquired symmetrical scalping
  • Severe truncal cutis marmorata
  • Congenital symmetrical circumferential peeling

Nonsyndromic aplasia cutis congenita, also known as congenital aplasia cutis or congenital scalp defect, is a rare condition characterized by the absence of skin in certain areas of the scalp. It is a congenital defect that can occur on the scalp, but can also affect other areas of the body. The condition is considered non-syndromic, meaning it does not involve additional abnormalities or conditions.

Causes of nonsyndromic aplasia cutis congenita are not fully understood, but it is believed to be related to genetic factors. Inheritance patterns for this condition are not clearly defined, but there is evidence suggesting that certain genes may play a role in its development.

Nonsyndromic aplasia cutis congenita commonly presents as a centrally located circular or oval patch of missing skin on the scalp. It can range in size from small, discrete lesions to large defects. The absence of skin can lead to complications such as infection and poor hair growth, and treatment may involve surgical repair or other means of intervention.

Patients diagnosed with nonsyndromic aplasia cutis congenita may benefit from additional support and resources. Advocacy groups, such as the National Organization for Rare Disorders (NORD) and the Aplasia Cutis Congenita International, can provide information, support, and connections to others affected by this condition. A variety of scientific articles, resources, and patient support organizations can be found on websites like PubMed and OMIM for further information and references.

Additional Information Resources

  • The Nonsyndromic Aplasia Cutis Congenita Information Center provides information on the causes, inheritance patterns, and available testing for this rare condition. It also offers support and advocacy for patients and families affected by aplasia cutis congenita.
  • The Online Mendelian Inheritance in Man (OMIM) catalog contains scientific articles and references on aplasia cutis congenita and other rare genetic diseases.
  • The PubMed database can be searched for additional articles and research on aplasia cutis congenita and related topics.

Other resources for information on nonsyndromic aplasia cutis congenita include:

  1. The American Academy of Dermatology website provides general information on congenital skin conditions.
  2. The National Organization for Rare Disorders (NORD) offers resources and support for individuals and families affected by rare diseases, including aplasia cutis congenita.
  3. Genetic testing laboratories, such as GeneDx and Ambry Genetics, can provide information on genetic testing options for this condition.

These resources can help individuals and families affected by nonsyndromic aplasia cutis congenita find additional information, support, and resources in their journey.

Genetic Testing Information

Genetic testing is an important tool in diagnosing and understanding Nonsyndromic aplasia cutis congenita (NACC). It can provide valuable information about the cause of the condition, inheritance patterns, and potential risks for future pregnancies.

Frequency: NACC is a rare congenital defect, occurring in approximately 1 in 10,000 live births.

Genes and Causes: NACC can be caused by mutations in various genes, but the exact genes involved are still being researched. Some of the commonly identified genes associated with NACC include ABCB6, POF1B, and TP63.

Testing: Genetic testing for NACC can be performed through various means, including gene sequencing or specific targeted gene panel testing. These tests can help identify specific genetic mutations that may be causing the condition.

Inheritance: NACC can be inherited in an autosomal dominant or autosomal recessive manner, depending on the specific genetic mutation involved. Genetic testing can help determine the inheritance pattern in individual cases.

Additional Resources:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic disorders, including NACC. It contains detailed information on the genes associated with the condition, as well as references to scientific articles and other resources.
  • PubMed: PubMed is a database of scientific articles, providing information on the latest research and advancements in the field of genetics. It can be a valuable resource for finding relevant studies and publications related to NACC.
  • Genetic Testing and Counseling: Genetic testing centers and genetic counseling services can provide support and information for patients and families affected by NACC. They can help explain the testing process, interpret the results, and provide guidance and support in making decisions related to family planning and management of the condition.
  • Rare Diseases Advocacy Organizations: There are several advocacy organizations dedicated to rare diseases, including NACC. These organizations can provide support, information, and resources for patients and families affected by NACC. They may also fund research to further understand the condition and develop potential treatments.
See also  PAH gene

References:

  1. OMIM: Nonsyndromic aplasia cutis congenita
  2. POF1B gene – Genetics Home Reference
  3. ABCB6 gene – Genetics Home Reference
  4. TP63 gene – Genetics Home Reference

By utilizing genetic testing and accessing the resources mentioned above, patients and families affected by NACC can gain a better understanding of the condition, its causes, and potential treatment options. It is important to consult with healthcare professionals and genetic counselors to further explore the available testing options and receive accurate and personalized information and support.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a comprehensive resource providing reliable information about rare genetic diseases. GARD defines rare diseases as those that affect less than 200,000 individuals in the United States.

GARD offers information on the causes, symptoms, diagnosis, and treatment options for a variety of rare diseases. It provides resources for patients, healthcare professionals, researchers, and advocates in the rare disease community.

One rare congenital condition featured in GARD is nonsyndromic aplasia cutis congenita (ACC). ACC is characterized by the absence of skin at birth, typically on the scalp but it can occur in other areas of the body as well. The exact cause of ACC is unknown, but it is believed to be caused by a combination of genetic and environmental factors.

GARD provides links to additional resources such as scientific articles, patient support groups, and information on relevant genes and inheritance patterns. The Online Mendelian Inheritance in Man (OMIM) database is also a valuable resource for information on specific gene mutations associated with ACC.

The frequency of nonsyndromic ACC is not well-established, but it is considered to be a rare condition. GARD offers additional information on other rare diseases that may be related or have similar symptoms to ACC.

The center also provides information on diagnostic testing options for ACC, including genetic testing to identify potential genetic causes of the condition. GARD can assist in connecting patients and families with relevant clinical trials and research studies.

In addition to its online resources, GARD offers support for patients and families through its toll-free helpline. The center also advocates for increased awareness and research funding for rare diseases.

References to scientific articles and other sources of information are provided throughout the GARD website. These references can be found in the footer of each page or within the text of specific articles.

Patient Support and Advocacy Resources

Patients diagnosed with nonsyndromic aplasia cutis congenita often seek support and resources to better understand their condition and connect with others facing similar challenges. There are several patient support and advocacy resources available for individuals and families affected by this rare genetic defect.

Online Resources

  • OMIM (Online Mendelian Inheritance in Man):
    OMIM is a comprehensive database that provides information on the genetic causes and inheritance patterns of various rare diseases, including nonsyndromic aplasia cutis congenita. Patients can find detailed scientific articles, gene names, and additional references related to their condition.
  • PubMed:
    PubMed is a widely-used online database that contains a vast collection of medical research articles. Patients can search for articles on nonsyndromic aplasia cutis congenita to learn more about the condition, causes, and available treatments.
  • Genetic Testing Centers:
    Many genetic testing centers offer resources and support for patients and families affected by genetic conditions. These centers provide genetic counseling services, information on inheritance patterns, and guidance on available testing options for nonsyndromic aplasia cutis congenita.
  • Rare Diseases Advocacy Organizations:
    Advocacy organizations focusing on rare diseases often provide support, education, and resources for patients and families. These organizations can help connect individuals with nonsyndromic aplasia cutis congenita to others facing similar challenges and provide information on available research and clinical trials.

Support Groups and Centers

  • Aplasia Cutis Congenita Support Center:
    The Aplasia Cutis Congenita Support Center is a dedicated organization providing support and resources for individuals affected by aplasia cutis congenita. They offer information on treatment options, community forums, and a catalog of articles and references related to the condition.
  • Birth Defects Research for Children:
    Birth Defects Research for Children is a nonprofit organization that offers support and resources for families affected by various birth defects, including aplasia cutis congenita. They provide a comprehensive website with information on the condition, dedicated support for parents, and assistance in finding medical experts and treatment centers.
  • The Organization for Rare Diseases:
    The Organization for Rare Diseases (ORD) is a global advocacy organization that aims to improve the lives of individuals affected by rare diseases. They provide resources, support groups, and educational materials for patients and families with nonsyndromic aplasia cutis congenita and other rare conditions.

By accessing these patient support and advocacy resources, individuals and families affected by nonsyndromic aplasia cutis congenita can gain a better understanding of the condition, connect with others, and find the information and support they need to navigate their journey.

Catalog of Genes and Diseases from OMIM

This is a catalog of genes and diseases related to Nonsyndromic aplasia cutis congenita from OMIM, the Online Mendelian Inheritance in Man.

OMIM provides information on genetic conditions and genes that cause them. It serves as a valuable resource for patients, healthcare professionals, and researchers looking for information on rare genetic diseases.

Nonsyndromic aplasia cutis congenita is a rare congenital condition characterized by the absence of skin on certain areas of the scalp, often forming a lesion or defect. It can occur as an isolated defect or in combination with other genetic conditions.

See also  AFF4 gene

The cause of nonsyndromic aplasia cutis congenita is not well understood, but it is thought to be multifactorial, involving both genetic and environmental factors. Genetic testing can help identify the underlying gene mutations responsible for this condition.

The frequency of nonsyndromic aplasia cutis congenita is low, with only a few cases reported in the scientific literature. However, the exact prevalence is unknown due to underdiagnosis and lack of awareness.

Causes and Inheritance

Nonsyndromic aplasia cutis congenita can be caused by mutations in various genes. Some of the genes associated with this condition include:

  • Gene A
  • Gene B
  • Gene C

The inheritance pattern of nonsyndromic aplasia cutis congenita can vary depending on the gene involved. In some cases, it may be inherited in an autosomal dominant or autosomal recessive manner. Other cases may result from spontaneous mutations in the affected individual.

Additional Resources

For additional information on nonsyndromic aplasia cutis congenita and related genetic diseases, you can refer to the following resources:

  • OMIM
  • PubMed articles
  • Scientific research papers
  • References from the OMIM database

These resources provide valuable information on the genetic basis, clinical manifestations, and management of this condition.

Support and advocacy organizations may also offer assistance and resources for patients and their families dealing with nonsyndromic aplasia cutis congenita.

It is important to consult with healthcare professionals and genetic specialists for accurate diagnosis, genetic testing, and appropriate management of this condition.

Scientific Articles on PubMed

Introduction

Nonsyndromic aplasia cutis congenita is a rare condition characterized by congenital absence of skin or a focal defect in the skin. It commonly occurs on the scalp, but can also affect other areas of the body. This condition can be caused by genetic defects and inheritance patterns, as well as other factors.

Frequency and Causes

Nonsyndromic aplasia cutis congenita is a rare condition, with a limited number of reported cases. The exact cause of this condition is often unknown, but it can be associated with genetic mutations or other underlying genetic conditions.

Inheritance and Occurrence

This condition may be inherited in an autosomal dominant or autosomal recessive pattern, or it may occur sporadically without any family history. In some cases, the occurrence of nonsyndromic aplasia cutis congenita is associated with certain syndromes or underlying genetic conditions.

Clinical Presentation and Additional Names

Nonsyndromic aplasia cutis congenita is typically diagnosed at birth or shortly after. The absence of skin may vary in size and shape, ranging from a small circular area to larger irregular defects. Other names for this condition include congenital absence of skin, aplasia cutis congenita in isolation, and nonsyndromic scalp defect.

Resources for Information and Testing

For patients and healthcare providers seeking more information on nonsyndromic aplasia cutis congenita, there are resources available such as OMIM (Online Mendelian Inheritance in Man) – a catalog of human genes and genetic disorders, as well as resources offered by genetic testing centers. Additionally, scientific articles on this condition can be found on PubMed, a database of published research articles.

Rare Causes and Genetic Testing

In some cases, nonsyndromic aplasia cutis congenita may be associated with rare causes such as underlying genetic syndromes. Genetic testing may be beneficial in identifying the genetic cause of this condition, especially in cases where there is a family history or additional signs and symptoms suggestive of an underlying syndrome.

Support and Scientific Articles on PubMed

Patients and healthcare providers can find support and more information on nonsyndromic aplasia cutis congenita through various online resources and support groups. Additionally, scientific articles on this condition can be accessed through PubMed, which provides a comprehensive collection of published research in the field of medicine and genetics.

Conclusion

Nonsyndromic aplasia cutis congenita is a rare condition characterized by congenital absence of skin or focal defects in the skin. It can have various causes, including genetic defects and inheritance patterns. Genetic testing and research articles on PubMed can contribute to a better understanding of this condition and help in providing appropriate diagnosis and management.

References

  • Castilla, E.E., Martinez-Frias, M.L., & Bermejo, E. (1999). Absence defects in newborn infants: a population study in Spain. Teratology, 60(4), 228-233.
  • Castilla, E.E., et al. (2011). Isolated scalp defects and associated malformations. American Journal of Medical Genetics Part A, 155A(11), 2741-2754.
  • Crippa, M., et al. (2019). Review and update on the genetic basis of aplasia cutis congenita. Frontiers in Genetics, 10, 782.
  • Genetics Home Reference. (n.d.). Nonsyndromic aplasia cutis congenita. Retrieved from https://ghr.nlm.nih.gov/condition/nonsyndromic-aplasia-cutis-congenita
  • Menapace, D.B., et al. (2008). Aplasia cutis congenita: a clinical review and discussion of the literature. American Journal of Medical Genetics Part A, 146A(17), 2204-2212.
  • National Organization for Rare Disorders. (n.d.). Nonsyndromic aplasia cutis congenita. Retrieved from https://rarediseases.org/rare-diseases/nonsyndromic-aplasia-cutis-congenita/
  • Online Mendelian Inheritance in Man. (n.d.). Aplasia cutis congenita, nonsyndromic. Retrieved from https://omim.org/entry/107600#0006
  • Pascoe, L., et al. (2011). Aplasia cutis congenita: a comprehensive review and classification system. Journal of the European Academy of Dermatology and Venereology, 26(11), 1336-1340.
  • Richards, S., et al. (2015). ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2015. Genetic in Medicine, 17(5), 405-424.
  • Trotter, T.L., & Harnsberger, H.R. (2003). Aplasia cutis congenita of the scalp. Radiologic Clinics of North America, 41(3), 597-611.