Natural history of the Naegeli-Franceschetti-Jadassohn syndrome and further delineation of its clinical manifestations.

Abstract

The Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is rare; only three families have been reported. Our purpose was to determine the natural history of this ectodermal dysplasia and to delineate further its clinical manifestations. We reexamined the original family with the NFJ syndrome 65 years after the first description. The pedigree includes 62 members with 14 affected patients. We examined the 10 living patients. Longitudinal analysis of the pedigree revealed that the reticulate pigmentation fades after puberty and may disappear completely in old age. Hypohidrosis, the main problem for the patients, remains constant. Teeth are always severely affected, 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 pattern. Four patients had congenital malalignment of the great toenails, not described previously in association with the NFJ syndrome. The NFJ syndrome is an ectodermal dysplasia with numerous specific abnormalities.