Naegeli-Franceschetti-Jadassohn syndrome: A rare case

Autor:	Bela J Shah, Ashish K Jagati, Neha P Gupta, Suyog S Dhamale
Jazyk:	angličtina
Rok vydání:	2015
Předmět:	Dermatopathia pigmentosa reticularis KRT 14 gene Naegeli-Franceschetti-Jadassohn reticulate hyperpigmentation Dermatology RL1-803
Zdroj:	Indian Dermatology Online Journal, Vol 6, Iss 6, Pp 403-406 (2015)
Druh dokumentu:	article
ISSN:	2229-5178
DOI:	10.4103/2229-5178.169712
Popis:	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.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/77d0e51a291a4561aa3e10ca3eefad5d Zobrazit plný text záznamu View record in DOAJ Plný text ve formátu PDF