Naegeli-Franceschetti-Jadassohn syndrome: A rare case

Naegeli-Franceschetti-Jadassohn Syndrome (NFJS) is a rare, autosomal dominant inherited form of ectodermal dysplasia, caused by mutation in the KRT14 gene. We report here a case of NFJS in a 27-year-old male who presented with reticulate hyperpigmentation over skin, dental changes, absence of dermat...

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Bibliographic Details
Main Authors: Bela J Shah (Author), Ashish K Jagati (Author), Neha P Gupta (Author), Suyog S Dhamale (Author)
Format: Book
Published: Wolters Kluwer Medknow Publications, 2015-01-01T00:00:00Z.
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Summary:Naegeli-Franceschetti-Jadassohn Syndrome (NFJS) is a rare, autosomal dominant inherited form of ectodermal dysplasia, caused by mutation in the KRT14 gene. We report here a case of NFJS in a 27-year-old male who presented with reticulate hyperpigmentation over skin, dental changes, absence of dermatoglyphics, hypohidrosis, and hair changes.
Item Description:2229-5178
10.4103/2229-5178.169712