Identification Of A Founder Mutation In Krt14 Associated With Naegeli-Franceschetti-Jadassohn Syndrome

Naegeli-Franceschetti-Jadassohn syndrome (NFJS; Mendelian Inheritance in Man (MIM) 161000) is a rare, autosomal-dominant ectodermal dysplasia.(1) Affected individuals present with a heterogenous spectrum of ectodermal abnormalities. The most distinctive features are absent dermatoglyphics, reticulate hyperpigmentation of the skin, palmoplantar keratoderma, and decreased sweating. Other features may include abnormalities of the teeth, hair, nails, and skin.