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.

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

 

 

General Support Organizations

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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 6 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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Spontaneous fading of reticular pigmentation in Naegeli-Franceschetti-Jadassohn syndrome.
 

Author(s): Peter H Itin, Bettina Burger

Journal: Dermatology (Basel). 2010 ;221(2):135-6.

 

Last Updated: 31 Aug 2010

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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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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.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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