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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| Format: | Book |
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Wolters Kluwer Medknow Publications,
2015-01-01T00:00:00Z.
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MARC
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|---|---|---|---|
| 001 | doaj_77d0e51a291a4561aa3e10ca3eefad5d | ||
| 042 | |a dc | ||
| 100 | 1 | 0 | |a Bela J Shah |e author |
| 700 | 1 | 0 | |a Ashish K Jagati |e author |
| 700 | 1 | 0 | |a Neha P Gupta |e author |
| 700 | 1 | 0 | |a Suyog S Dhamale |e author |
| 245 | 0 | 0 | |a Naegeli-Franceschetti-Jadassohn syndrome: A rare case |
| 260 | |b Wolters Kluwer Medknow Publications, |c 2015-01-01T00:00:00Z. | ||
| 500 | |a 2229-5178 | ||
| 500 | |a 10.4103/2229-5178.169712 | ||
| 520 | |a 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. | ||
| 546 | |a EN | ||
| 690 | |a Dermatopathia pigmentosa reticularis | ||
| 690 | |a KRT 14 gene | ||
| 690 | |a Naegeli-Franceschetti-Jadassohn | ||
| 690 | |a reticulate hyperpigmentation | ||
| 690 | |a Dermatology | ||
| 690 | |a RL1-803 | ||
| 655 | 7 | |a article |2 local | |
| 786 | 0 | |n Indian Dermatology Online Journal, Vol 6, Iss 6, Pp 403-406 (2015) | |
| 787 | 0 | |n http://www.idoj.in/article.asp?issn=2229-5178;year=2015;volume=6;issue=6;spage=403;epage=406;aulast=Shah | |
| 787 | 0 | |n https://doaj.org/toc/2229-5178 | |
| 856 | 4 | 1 | |u https://doaj.org/article/77d0e51a291a4561aa3e10ca3eefad5d |z Connect to this object online. |