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Naegeli-Franceschetti-Jadassohn syndrome

Definition:

Naegeli-Franceschetti-Jadassohn syndrome (NFJ) is a rare autosomal dominant disorder characterized by complete absence of dermatoglyphics, reticulate hyperpigmentation of the skin, palmoplantar keratoderma, and decreased sweating. Enamel defects and nail dystrophy have been observed in some patients. Decreased expression of keratin 14 in this disorder sensitizes the keratinocytes to TNF-alpha-induced apoptosis.

References:

[1]. Jennie Lugassy, et al. KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome. J Invest Dermatol. 2008 Jun;128(6):1517-24. [Content Brief]

[2]. Jennie Lugassy, et al. Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. Am J Hum Genet. 2006 Oct;79(4):724-30. [Content Brief]

[3]. M Papini, et al. Natural history of the Naegeli-Franceschetti-Jadassohn syndrome. J Am Acad Dermatol. 1994 Nov;31(5 Pt 1):830. [Content Brief]

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