NATURAL-HISTORY OF THE NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME AND FURTHER DELINEATION OF ITS CLINICAL MANIFESTATIONS

Background: The Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is rare ; only three families have been reported. Objective: Our purpose was t o determine the natural history of this ectodermal dysplasia and to de lineate further its clinical manifestations. Methods. We reexamined th e original family with the NFJ syndrome 65 years after the first descr iption. Results. The pedigree includes 62 members with 14 affected pat ients. We examined the 10 living patients. Longitudinal analysis of th e pedigree revealed that the reticulate pigmentation fades after puber ty and may disappear completely in old age. Hypohidrosis, the main pro blem for the patients, remains constant. Teeth are always severely aff ected, leading to early total loss. All patients lack dermatoglyphics. Diffuse palmoplantar keratoderma may coexist with punctate keratoses that are sometimes accentuated in the creases or exhibit a linear patt ern. Four patients had congenital malalignment of the great toenails, not described previously in association with the NFJ syndrome. Conclus ion: The NFJ syndrome is an ectodermal dysplasia with numerous specifi c abnormalities.