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GENATLAS PHENOTYPE

last update : 09-09-2010

Symbol	NFJ
Location	17q21.2
Name	Naegeli-Franceschetti-Jadassohn syndrome
Other name(s)	Naegeli syndrome NFJ syndrome
Corresponding gene	KRT14
Main clinical features	characterized by loss of dermatoglyphics, reticulate hyperpigmentation of the skin, palmoplantar keratoderma, abnormal sweating, and other developmental anomalies of the teeth, hair, and skin. ectodermal dysplasia affecting sweat glands, nails, teeth, skin, with plantar and palmar hypohidrosis and hyperkeratosis, reticular cutaneous pigmentation (starting at about the age of 2 years without a preceding inflammatory stage), discomfort provoked by heat with diminished sweat gland function, poor teeth, and moderate hyperkeratosis of the palms and soles, absence of dermatoglyphics
Genetic determination	autosomal dominant
Function/system disorder	dermatology
Type	disease

Remark(s)

results from haploinsufficiency for KRT14 (suggest that increased susceptibility of keratinocytes to pro-apoptotic signals may be involved in the pathogenesis of this ectodermal dysplasia syndrome) (PMID: 18049449))