Learn About Naegeli-Franceschetti-Jadassohn Syndrome

What is the definition of Naegeli-Franceschetti-Jadassohn Syndrome?

Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR) represents a rare type of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands. NFJS and DPR were originally described as separate conditions; however, because they have similar features and are caused by mutations in the same gene, they are now often considered forms of the same disorder.

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What are the causes of Naegeli-Franceschetti-Jadassohn Syndrome?

NFJS/DPR results from mutations in the KRT14 gene. This gene provides instructions for making a protein called keratin 14. Keratins are tough, fibrous proteins that provide strength and resiliency to the outer layer of the skin (the epidermis). Researchers believe that keratin 14 may also play a role in the formation of sweat glands and the development of dermatoglyphs.

How prevalent is Naegeli-Franceschetti-Jadassohn Syndrome?

NFJS/DPR is a rare condition; its prevalence is unknown. Only a few affected families have been reported in the medical literature.

Is Naegeli-Franceschetti-Jadassohn Syndrome an inherited disorder?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

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Who are the sources who wrote this article ?

Published Date: May 01, 2013Published By: National Institutes of Health

What are the Latest Advances for Naegeli-Franceschetti-Jadassohn Syndrome?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.