Naegeli syndrome

Common Name(s)

Naegeli syndrome, Naegeli-Franceschetti-Jadassohn syndrome

Naegeli syndrome belongs to a group of disorders known as ectodermal dysplasias. This condition is characterized by absent fingerprints, thickening of the palms and soles (palmoplantar keratoderma), decreased sweating (hypohidrosis), heat intolerance, patches of darker (hyperpigmented) skin, brittle nails, abnormally colored teeth, and early tooth loss. Naegeli syndrome is caused by mutations in the KRT14 gene and inherited in an autosomal dominant manner. Treatment is based on an individual's symptoms.
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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Naegeli syndrome" for support, advocacy or research.

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Naegeli syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
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Recommended Apps

Privately answer questions about your health. Let resources, you select, come to you

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

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Relief is when you and the right researcher find each other

Finding the right clinical trial for Naegeli syndrome can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Naegeli syndrome" returned 5 free, full-text research articles on human participants. First 3 results:

A new case of keratin 14 functional knockout causes severe recessive EBS and questions the haploinsufficiency model of Naegeli-Franceschetti-Jadassohn syndrome.
 

Author(s): Matthias Titeux, Audrey Décha, Nathalie Pironon, Laure Tonasso, Géraldine Gasc, José Enrique Mejía, Catherine Prost-Squarcioni, Alain Hovnanian

Journal: J. Invest. Dermatol.. 2011 Oct;131(10):2131-3.

 

Last Updated: 15 Sep 2011

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KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome.
 

Author(s): Jennie Lugassy, John A McGrath, Peter Itin, Revital Shemer, Julian Verbov, Helen R Murphy, Akemi Ishida-Yamamoto, John J Digiovanna, Dani Bercovich, Nathan Karin, Alon Vitenshtein, Jouni Uitto, Reuven Bergman, Gabriele Richard, Eli Sprecher

Journal: J. Invest. Dermatol.. 2008 Jun;128(6):1517-24.

 

Naegeli-Franceschetti-Jadassohn syndrome (NFJS) is a rare autosomal dominant disorder characterized by loss of dermatoglyphics, reticulate hyperpigmentation of the skin, palmoplantar keratoderma, abnormal sweating, and other developmental anomalies of the teeth, hair, and skin. We ...

Last Updated: 14 May 2008

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Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.
 

Author(s): Jennie Lugassy, Peter Itin, Akemi Ishida-Yamamoto, Kristen Holland, Susan Huson, Dan Geiger, Hans Christian Hennies, Margarita Indelman, Dani Bercovich, Jouni Uitto, Reuven Bergman, John A McGrath, Gabriele Richard, Eli Sprecher

Journal: Am. J. Hum. Genet.. 2006 Oct;79(4):724-30.

 

Naegeli-Franceschetti-Jadassohn syndrome (NFJS) and dermatopathia pigmentosa reticularis (DPR) are two closely related autosomal dominant ectodermal dysplasia syndromes that clinically share complete absence of dermatoglyphics (fingerprint lines), a reticulate pattern of skin hyperpigmentation, ...

Last Updated: 8 Sep 2006

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PubMed Article Results at NCBI: 5 article(s)

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Naegeli syndrome" returned 0 free, full-text review articles on human participants.

No free, full-text review articles on human participants are available at this time. Please click this link to visit the PubMed website for results on "Naegeli syndrome".

 
 
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Symptoms, Diagnosis, and Treatment

This information is provided by Genetics Home Reference.
https://ghr.nlm.nih.gov/condition/naegeli-franceschetti-jadassohn-syndrome-dermatopathia-pigmentosa-reticularis
https://ghr.nlm.nih.gov/condition/adermatoglyphia
https://ghr.nlm.nih.gov/gene/KRT14
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Full Results at Genetics Home Reference: 1640 matches

There are currently no related results available in GeneReviews.

This information is provided by Genetic Testing Registry.
http://www.ncbi.nlm.nih.gov/gtr/conditions/C0343111
 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.

According to ClinicalTrials.gov there are currently 0 additional "open" studies for "Naegeli syndrome" (open studies are recruiting volunteers) and 0 "Naegeli syndrome" studies with "all" status. Visit ClinicalTrials.gov now to view them. Or alternatively, consider TrialsFinder for assistance:
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Relief is when you and the right researcher find each other
Finding the right clinical trial for Naegeli syndrome can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.
Learn More