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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Autores principales: Shah, Bela J., Jagati, Ashish K., Gupta, Neha P., Dhamale, Suyog S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4693352/
https://www.ncbi.nlm.nih.gov/pubmed/26753140
http://dx.doi.org/10.4103/2229-5178.169712
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author Shah, Bela J.
Jagati, Ashish K.
Gupta, Neha P.
Dhamale, Suyog S.
author_facet Shah, Bela J.
Jagati, Ashish K.
Gupta, Neha P.
Dhamale, Suyog S.
author_sort Shah, Bela J.
collection PubMed
description 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.
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spelling pubmed-46933522016-01-08 Naegeli–Franceschetti–Jadassohn syndrome: A rare case Shah, Bela J. Jagati, Ashish K. Gupta, Neha P. Dhamale, Suyog S. Indian Dermatol Online J Case Report 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. Medknow Publications & Media Pvt Ltd 2015 /pmc/articles/PMC4693352/ /pubmed/26753140 http://dx.doi.org/10.4103/2229-5178.169712 Text en Copyright: © Indian Dermatology Online Journal http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.
spellingShingle Case Report
Shah, Bela J.
Jagati, Ashish K.
Gupta, Neha P.
Dhamale, Suyog S.
Naegeli–Franceschetti–Jadassohn syndrome: A rare case
title Naegeli–Franceschetti–Jadassohn syndrome: A rare case
title_full Naegeli–Franceschetti–Jadassohn syndrome: A rare case
title_fullStr Naegeli–Franceschetti–Jadassohn syndrome: A rare case
title_full_unstemmed Naegeli–Franceschetti–Jadassohn syndrome: A rare case
title_short Naegeli–Franceschetti–Jadassohn syndrome: A rare case
title_sort naegeli–franceschetti–jadassohn syndrome: a rare case
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4693352/
https://www.ncbi.nlm.nih.gov/pubmed/26753140
http://dx.doi.org/10.4103/2229-5178.169712
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