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Naegeli-Franceschetti-Jadassohn syndrome: A rare case.

ABSTRACT: 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.

SUBMITTER: Shah BJ

PROVIDER: S-EPMC4693352 | biostudies-literature | 2015 Nov-Dec

REPOSITORIES: biostudies-literature

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Naegeli-Franceschetti-Jadassohn syndrome: A rare case.

Shah Bela J BJ Jagati Ashish K AK Gupta Neha P NP Dhamale Suyog S SS

Indian dermatology online journal 20151101 6

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. ...[more]

PMID: 26753140

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