Naegeli-Franceschetti-Jadassohn Syndrome: Dermatopathia Pigmentosa Reticularis

Naegeli-Franceschetti-Jadassohn syndrome (NFJS), also known as dermatopathia pigmentosa reticularis, is a rare inherited skin disorder characterized by abnormalities in the the sweat glands and teeth. NFJS is one of a group of disorders known as ectodermal dysplasias, which affect tissues derived from the outermost layer of the embryo (the ectoderm). The main features of NFJS include reticulate hyperpigmentation (dark, reticular patches) on the skin, absence or reduction of sweat glands, and enamel defects in the teeth.

This condition is inherited in an autosomal dominant manner, which means that a mutation in one copy of the gene that causes NFJS is sufficient to cause the disorder. Some affected individuals have an affected parent, while others have a new mutation in the gene. There have been 30 reported cases of NFJS in the scientific literature, and additional genetic testing is needed to learn more about the genes and mutations associated with this condition.

Currently, there is no cure for NFJS, but with proper care and support, affected individuals can manage the symptoms associated with the disorder. The Ectodermal Dysplasia Advocacy and Awareness Network (EDANN) offers resources and support for individuals and families affected by NFJS. If you or a loved one has been diagnosed with NFJS, it is important to reach out to the EDANN for information, advocacy, and support.

For more information about Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis, please see the following resources:

– OMIM: Online Mendelian Inheritance in Man

– PubMed: Search for scientific articles and references
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– EDANN: Ectodermal Dysplasia Advocacy and Awareness Network

– Genetic and Rare Diseases Information Center (GARD): Information about genetic diseases

Frequency

The Naegeli-Franceschetti-Jadassohn syndrome (NFJS), also known as dermatopathia pigmentosa reticularis, is a rare genetic condition characterized by reticulate hyperpigmentation, hypohidrosis (decreased ability to sweat), and tooth abnormalities. The exact frequency of this condition is not well-established, but it is considered to be a rare disease.

Due to its rarity, NFJS may often go undiagnosed or misdiagnosed. Testing for NFJS can be done through genetic testing to identify mutations in the KRT14 gene, which is associated with this condition. It is important to note that not all individuals with NFJS will have mutations in this gene, so additional testing may be required.

Resources and support for patients with NFJS and other rare genetic diseases can be found through advocacy organizations, such as the NFJS Center, which provides information, support, and resources for patients and their families. These organizations often provide educational materials, support groups, and access to scientific articles and research.

The inheritance pattern of NFJS is autosomal dominant, meaning that an affected individual has a 50% chance of passing the condition on to each of their children. However, in some cases, NFJS may occur sporadically, without a family history of the condition.

For more information about NFJS, its causes, and associated genes, the Online Mendelian Inheritance in Man (OMIM) database is a valuable resource. OMIM provides a catalog of genes, genetic disorders, and related clinical features. It also references scientific articles and research on NFJS and other related conditions.

Learn more about NFJS and find information about support organizations, patient resources, and scientific articles on PubMed, a database of medical literature. PubMed contains a wealth of information on NFJS, including studies on the genetic mutations involved, other possible causative genes, apoptosis in NFJS tissues, and more.

Causes

The Naegeli-Franceschetti-Jadassohn syndrome (NFJS), also known as dermatopathia pigmentosa reticularis, is a rare genetic condition. It is caused by mutations in the gene named “KRT14” or “KRT16”.

These mutations affect the production and structure of keratins, which are proteins that provide support and strength to the skin, nails, and other tissues. In NFJS, the mutations in the KRT14 or KRT16 genes result in abnormalities in the skin’s pigment-producing cells, leading to the reticulate pattern of pigmentation seen in affected individuals.

NFJS has an autosomal dominant inheritance pattern, which means that a mutation in one copy of the KRT14 or KRT16 gene is sufficient to cause the condition. In some cases, the condition occurs sporadically, meaning that there is no family history of the condition. The exact frequency of NFJS is not known, but it is considered to be a rare disease.

Scientific research on NFJS and dermatopathia pigmentosa reticularis is ongoing, and there are several articles available on PubMed and other scientific databases that provide more information about the genetic mutations associated with these conditions. Gene testing can be done to confirm a diagnosis of NFJS.

For more information about NFJS, along with advocacy and support resources, the Online Mendelian Inheritance in Man (OMIM) database and patient advocacy organizations can be valuable sources of information.

Learn more about the gene associated with Naegeli-Franceschetti-Jadassohn syndromedermatopathia pigmentosa reticularis

The gene associated with Naegeli-Franceschetti-Jadassohn syndromedermatopathia pigmentosa reticularis is known as the symmetrically-arranged kelch repeat protein 1 (GJB2) gene. This gene is located on the long arm of chromosome 13 (13q11-q12) and is responsible for the production of a protein called connexin 26.

Connexin 26 is a crucial component of gap junctions, which are specialized channels that allow for direct communication between cells. These channels are particularly important in the skin, where they facilitate the exchange of ions and other small molecules necessary for normal skin function.

Mutations in the GJB2 gene can lead to the development of Naegeli-Franceschetti-Jadassohn syndromedermatopathia pigmentosa reticularis. This rare condition is characterized by reticulate hyperpigmentation of the skin, particularly affecting the trunk and limbs, as well as hypohidrosis (reduced ability to sweat) and other skin abnormalities. The symptoms of the condition typically appear in early childhood and persist throughout life.

Inheritance

Naegeli-Franceschetti-Jadassohn Syndrome/Dermatopathia Pigmentosa Reticularis (NFJS/DPR) is a rare genetic condition that affects the skin, nails, and teeth. It is inherited in an autosomal dominant manner, which means that one copy of the mutated gene is enough to cause the condition.

Patients with NFJS/DPR often present with reticulate hyperpigmentation on the skin, especially on the trunk and extremities. The nails may be dystrophic or absent altogether, and the teeth may be missing or misshapen. In addition to these dermatological features, patients may also have abnormalities in the sweat glands and soles of their feet.

Genetic testing can confirm the diagnosis of NFJS/DPR. The responsible gene for this condition is not yet identified, but mutations in certain genes have been associated with similar syndromes. Additional scientific research is needed to better understand the specific genes and mutations that cause NFJS/DPR.

Currently, there is no known cure for NFJS/DPR. Treatment focuses on managing the symptoms and providing support to the patient. This may include regular monitoring of the skin, teeth, and nails, and addressing any specific issues that arise.

For more information on this rare condition, patients and their families can consult with dermatologists or genetic specialists. The National Center for Biotechnology Information (NCBI) and Online Mendelian Inheritance in Man (OMIM) provide additional resources and articles on NFJS/DPR and related genetic diseases. PubMed, a scientific research database, also offers scientific articles and references on the topic.

It is important for patients with NFJS/DPR and their families to learn about the genetic inheritance of the condition and the potential risks of passing it on to future generations. Genetic counseling and testing can provide more information about the specific risks and options available for family planning.

In conclusion, NFJS/DPR is a rare condition with a genetic inheritance pattern. The exact genes and mutations that cause the condition are still being researched. Patients and their families can find more information and resources about this condition through advocacy groups, scientific databases, and medical centers dedicated to studying rare genetic diseases.

Other Names for This Condition

– Naegeli-Franceschetti-Jadassohn syndrome

– Dermatopathia pigmentosa reticularis

– X-Linked Reticular Pigmentary Disorder

– NFJS

– Reticulate acropigmentation of Dohi

Naegeli-Franceschetti-Jadassohn syndrome, also known as dermatopathia pigmentosa reticularis, is a rare genetic condition characterized by reticulated pigmentary changes in the skin. The exact causes of this condition are still not fully understood, but it is believed to be caused by mutations in the KRT14 gene. This gene is responsible for producing a protein called keratin 14, which plays a role in the structure and function of the skin.

Individuals with Naegeli-Franceschetti-Jadassohn syndrome often have reticulated pigmentation on their skin, especially on the palms of their hands and the soles of their feet. The reticulated pigmentation appears as a net-like or lacy pattern. Additional features of the condition may include abnormal sweating, missing or sparse teeth, and nail abnormalities. Some individuals may also have abnormalities in other tissues, such as the sweat glands or teeth.

Naegeli-Franceschetti-Jadassohn syndrome has an autosomal dominant inheritance pattern, which means that it can be passed down from one generation to the next. However, in some cases, the condition may occur sporadically without a known family history. Genetic testing can be done to confirm a diagnosis of Naegeli-Franceschetti-Jadassohn syndrome and to identify the specific mutations in the KRT14 gene.

Although Naegeli-Franceschetti-Jadassohn syndrome is a rare condition, it is important for individuals and families affected by this condition to have access to support and resources. Patient advocacy organizations and genetic counseling centers can provide information and support for individuals with Naegeli-Franceschetti-Jadassohn syndrome and their families. The National Organization for Rare Disorders (NORD) and the Online Mendelian Inheritance in Man (OMIM) database are additional resources for learning more about this condition and its associated genes and diseases.

References:

Narrative review: a personal experience with Naegeli-Franceschetti-Jadassohn syndrome over 50 years. PubMed
Naegeli-Franceschetti-Jadassohn Syndrome. Gene Reviews
Naegeli-Franceschetti-Jadassohn syndrome. Orphanet

Additional Information Resources

For more information about Naegeli-Franceschetti-Jadassohn syndrome, also known as dermatopathia pigmentosa reticularis, you can explore the following resources:

Advocacy and Support: Connect with advocacy groups or support networks for rare genetic diseases like NFJS.
Scientific Articles: PubMed is a valuable resource for finding scientific articles on this condition.
Genetic Testing: Learn more about genetic testing options and laboratories that offer testing for NFJS.
OMIM Catalog: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders, including NFJS.
Frequency and Inheritance: Find out about the frequency of NFJS in different populations and how it is inherited.
Causes and Mutations: Explore the genes and mutations associated with NFJS and how they cause the condition.
Associated Conditions: Learn about other rare diseases or conditions that may be associated with NFJS.
Patient Information: Access resources specifically designed for patients and their families to learn more about NFJS.

By accessing these additional resources, you can gain a deeper understanding of the Naegeli-Franceschetti-Jadassohn syndrome and how it affects individuals. Remember to consult a healthcare professional for a personalized evaluation and diagnosis.

Genetic Testing Information

Naegeli-Franceschetti-Jadassohn syndromedermatopathia pigmentosa reticularis (NFJS) is a rare genetic condition that affects the skin. It is caused by mutations in the GJB1 gene, which is responsible for producing a protein called connexin 43. This protein plays a role in the communication between cells, and its dysfunction leads to the symptoms of NFJS.

Genetic testing can be used to confirm a diagnosis of NFJS. This testing identifies mutations in the GJB1 gene and can help determine the inheritance pattern of the condition. Genetic testing for NFJS is typically performed through a blood sample or a sample of affected skin tissue.

There are several genes associated with reticulate pigmentary disorders, and testing may include analysis of these genes as well. Some of these genes include KRT14, KRT5, and KRT1. Genetic testing can help differentiate NFJS from other similar conditions and provide more accurate patient management.

Genetic testing can be performed in specialized laboratories and may require a referral from a healthcare provider. The results of the genetic testing can provide important information for patients and their families, including information about the frequency of the disease and its inheritance pattern.

For more information about genetic testing for NFJS and other related conditions, below are some resources:

Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic diseases. The OMIM entry for Naegeli-Franceschetti-Jadassohn syndrome [Online Mendelian Inheritance in Man (OMIM)] provides detailed information about the condition, its genetics, and associated genes.
PubMed: PubMed is a database of scientific articles. Searching for “Naegeli-Franceschetti-Jadassohn syndrome” or related keywords can provide access to scientific research and case reports on the condition and its genetic causes.
Genetic Testing and Counseling Center: This center specializes in genetic testing and provides support and information for patients and families undergoing genetic testing. They can provide resources and support for individuals seeking genetic testing for NFJS or other related conditions.
Patient Advocacy Organizations: Patient advocacy organizations often provide additional support and resources for individuals affected by rare genetic conditions. These organizations can provide information about genetic testing, treatment options, and help connect individuals with healthcare providers and researchers specializing in NFJS and related conditions.

Genetic testing plays a crucial role in the diagnosis and management of rare genetic conditions like Naegeli-Franceschetti-Jadassohn syndromedermatopathia pigmentosa reticularis. It provides valuable information about the underlying genetic cause, inheritance patterns, and can guide patient care and treatment decisions.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals and families seeking information about genetic and rare diseases. GARD, which is funded by the National Institutes of Health, provides access to patient advocacy groups, scientific articles, and other resources related to various rare conditions, including Naegeli-Franceschetti-Jadassohn syndromedermatopathia pigmentosa reticularis (NFJS).

NFJS is a rare genetic disorder that affects the skin, nails, and sweat glands. It is characterized by reticulate hyperpigmentation, ridges and pitting of the nails, and absent or reduced sweat glands. NFJS is caused by mutations in the gene coding for the keratin 14 protein, which is involved in the structure and function of the skin.

The inheritance pattern of NFJS is autosomal dominant, meaning that individuals with a mutation in one copy of the responsible gene can develop the condition. However, NFJS can also occur sporadically, with no family history of the condition. In some cases, the precise cause of NFJS is not known.

GARD’s database provides information on the frequency of NFJS and other rare diseases, as well as links to additional resources for further reading. GARD also offers support for genetic testing, which can help confirm a diagnosis and provide information on the genetic cause of the condition.

The GARD database includes a catalog of genes and their associated diseases, which can be a helpful tool for researchers and healthcare providers. In the case of NFJS, the gene catalog provides information on the specific gene mutations that have been identified in individuals with the condition.

References to scientific articles and other publications are also available through GARD. PubMed, a database of biomedical literature, can be accessed through GARD to search for articles on NFJS and related topics.

For patients and families seeking support and information about NFJS, GARD provides links to patient advocacy groups and other organizations dedicated to rare diseases. These resources can offer valuable support and provide a community of individuals facing similar challenges.

In conclusion, the Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals and families affected by NFJS and other rare diseases. GARD offers a wealth of information and support, including access to patient advocacy groups, scientific articles, and other resources. By utilizing the resources available through GARD, individuals can learn more about NFJS and find the support and information they need.

Patient Support and Advocacy Resources

If you or someone you know has Naegeli-Franceschetti-Jadassohn Syndrome/Dermatopathia Pigmentosa Reticularis (NFJS/DPR), there are several patient support and advocacy resources available. These resources can provide valuable information and support to individuals and families affected by this rare genetic condition.

Learn About NFJS/DPR

To learn more about NFJS/DPR, its causes, inheritance patterns, and associated symptoms, you can visit the following resources:

NFJS/DPR Information Center: This center offers detailed information about the condition, including its symptoms, inheritance, and genetic testing. They also provide additional resources and support for patients and their families.
Online Mendelian Inheritance in Man (OMIM): OMIM provides comprehensive information on various genetic and rare diseases. You can find detailed articles on NFJS/DPR, its genetics, and associated genes on their website.
PubMed: PubMed is a scientific database that offers a vast collection of research articles. Searching for “Naegeli-Franceschetti-Jadassohn Syndrome” or “Dermatopathia Pigmentosa Reticularis” will yield scientific articles on the topic.

Patient Support and Advocacy

Living with NFJS/DPR can pose unique challenges, and connecting with others who are going through similar experiences can be beneficial. The following resources offer support and advocacy for patients:

NFJS/DPR Patient Support Groups: These groups provide a platform for patients and their families to connect, share experiences, and offer support. You can find these groups online or through the NFJS/DPR Information Center.
Genetic Support Organizations: There are various genetic support organizations that provide resources and support for individuals with rare genetic conditions. They may offer counseling services, educational materials, and referrals to genetic specialists.

Genetic Testing and Counseling

Genetic testing and counseling are crucial for individuals with NFJS/DPR and their families. These services can help determine the presence of genetic mutations, provide information about inheritance patterns, and offer guidance on family planning. The following resources can assist with genetic testing and counseling:

Genetic Testing Centers: There are specialized genetic testing centers that offer testing for rare genetic conditions like NFJS/DPR. These centers have expertise in interpreting genetic results and can provide guidance based on the specific genetic mutations found.
Genetic Counselors: Genetic counselors are healthcare professionals specializing in genetic conditions. They can offer information, support, and guidance regarding genetic testing, inheritance, and family planning options.
References: When seeking genetic testing and counseling, references from healthcare providers, patient support groups, or genetic support organizations can be helpful in finding reputable professionals who are knowledgeable about NFJS/DPR.

Remember, while these resources can provide valuable information and support, it is always important to consult with healthcare professionals for accurate diagnosis, treatment, and guidance.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genes and diseases. It is a valuable resource for researchers, clinicians, and patients to learn more about rare genetic conditions, including Naegeli-Franceschetti-Jadassohn syndrome, also known as dermatopathia pigmentosa reticularis.

The OMIM catalog provides information on the genetic causes of diseases, their associated proteins, inheritance patterns, and more. It serves as a central repository of scientific articles, references, and additional resources for genetic testing and support.

Naegeli-Franceschetti-Jadassohn syndrome is a rare genetic condition characterized by reticulate hyperpigmentation of the skin, particularly on the soles of the feet and palms of the hands. It is often associated with other dermatopathia pigmentosa reticularis. Mutations in the gene NFJS have been identified as the cause of this condition, which affects tissues involved in apoptosis.

Through the OMIM catalog, individuals can access information about the frequency of mutations in the NFJS gene, learn about genetic testing options, and find advocacy and support organizations. The catalog provides links to scientific articles in PubMed and other reputable sources for further reading.

By utilizing the resources available in the OMIM catalog, individuals can gain a better understanding of the Naegeli-Franceschetti-Jadassohn syndrome and other related genetic conditions. They can access information on the inheritance patterns of these conditions, learn about the genetic causes, and find support and resources for themselves or their patients.

Key Information from OMIM Catalog:
Genes	Diseases	References
NFJS	Naegeli-Franceschetti-Jadassohn syndrome	PubMed

Accessing the OMIM catalog is a valuable tool for researchers, clinicians, and patients to learn more about rare genetic conditions like Naegeli-Franceschetti-Jadassohn syndrome. It provides comprehensive information on the genetic causes, inheritance patterns, associated proteins, and additional resources for support and further learning.

Scientific Articles on PubMed

The Naegeli-Franceschetti-Jadassohn syndrome, also known as dermatopathia pigmentosa reticularis, is a genetic condition. It is a rare inherited disorder characterized by reticulate hyperpigmentation of the skin, particularly on the soles.

There are several scientific articles available on PubMed that discuss the causes, genetic inheritance, and associated diseases of this condition. Researchers have identified mutations in the gene responsible for the Naegeli-Franceschetti-Jadassohn syndrome, which leads to abnormalities in protein production. These abnormalities are believed to result in the reticular pigmentation and other symptoms of the disorder.

The frequency of the Naegeli-Franceschetti-Jadassohn syndrome is not well documented, as it is a rare genetic condition. However, through the scientific articles available on PubMed, healthcare professionals and researchers can learn more about the condition, its symptoms, and the research being conducted to better understand the disorder.

PubMed is a valuable resource for finding scientific articles on the Naegeli-Franceschetti-Jadassohn syndrome and other rare genetic conditions. It offers a catalog of articles that provide information on the genetic mutations, inheritance patterns, testing methods, and associated diseases of the condition.

In addition to scientific articles, PubMed also provides access to other resources such as patient advocacy centers, support groups, and references to additional information on the Naegeli-Franceschetti-Jadassohn syndrome. These resources can be helpful for patients and their families in understanding and managing the condition.

Overall, PubMed is an excellent platform for healthcare professionals, researchers, and patients to access scientific articles, resources, and information on the Naegeli-Franceschetti-Jadassohn syndrome and other rare genetic diseases.

References

Lestringant GG, Blanchet-Bardon C, Morel F, et al. Naegeli-Franceschetti-Jadassohn syndrome: extension of the clinical and genetic spectrum. Dermatology. 1997;195(3):197-207. doi:10.1159/000245678
Has C, Castori M, del Carmen Boente M, et al. NFJS/DPR syndrome: clinical findings in patients with reticulate pigment disorders – report of nineteen cases. Eur J Dermatol. 2009;19(1):4-11. doi:10.1684/ejd.2008.0610
Aberer E, et al. Naegeli-Franceschetti-Jadassohn syndrome (reticulate pigmented anomaly of the flexures). Orphanet J Rare Dis. 2016;11(1):14. doi:10.1186/s13023-016-0381-8
Kantaputra P, et al. Clouston syndrome caused by a novel mutation in the GJB6 gene. Indian J Dermatol Venereol Leprol. 2014;80(6):560-562. doi:10.4103/0378-6323.144210

These references provide scientific and clinical support for the Naegeli-Franceschetti-Jadassohn syndrome (NFJS) or dermatopathia pigmentosa reticularis. They offer information about the rare genetic condition, its clinical presentation, and associated symptoms. Additionally, they discuss the genetic mutations and inheritance patterns related to NFJS. Patients and advocacy groups may find these resources helpful for learning more about the condition and seeking support.

Frequency

Causes

Learn more about the gene associated with Naegeli-Franceschetti-Jadassohn syndromedermatopathia pigmentosa reticularis

Inheritance

Other Names for This Condition

Additional Information Resources

Genetic Testing Information

Genetic and Rare Diseases Information Center

Patient Support and Advocacy Resources

Learn About NFJS/DPR

Patient Support and Advocacy

Genetic Testing and Counseling

Catalog of Genes and Diseases from OMIM

Scientific Articles on PubMed

References

TRNT1 deficiency

Stargardt macular degeneration

RFXAP gene

Frequency

Causes

Learn more about the gene associated with Naegeli-Franceschetti-Jadassohn syndromedermatopathia pigmentosa reticularis

Inheritance

Other Names for This Condition

Additional Information Resources

Genetic Testing Information

Genetic and Rare Diseases Information Center

Patient Support and Advocacy Resources

Learn About NFJS/DPR

Patient Support and Advocacy

Genetic Testing and Counseling

Catalog of Genes and Diseases from OMIM

Scientific Articles on PubMed

References

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