P. Franceschini et al., Peculiar facial appearance and generalized brachydactyly in a patient withcongenital onychodysplasia of the index fingers (Iso-Kikuchi syndrome), AM J MED G, 98(4), 2001, pp. 330-335
We report on a patient with clinical manifestations consistent with a diagn
osis of congenital onychodysplasia of the index fingers (COIF), This syndro
me has been found mainly in Japan, and as far as we know, this is the first
case reported in Italy. In addition to the typical bilateral split nail of
the second finger, the patient showed bilateral inguinal hernia, a peculia
r face, and short hands. The metacarpophalangeal profile showed a generaliz
ed brachydactyly with all the hand long bones below x 3 SD. The patient's f
ather showed a peculiar kind of micronychia on both the fifth toes, suggest
ing a possible autosomal dominant transmission of the syndrome. In utero is
chemia of the palmer digital artery and a dysplastic change in the crescent
-shaped cap of the distal phalanx are the two main candidate pathogenetic m
echanisms that have been proposed. In our opinion, the gradual broadening o
f the spectrum of this syndrome brings support to the hypothesis of a basal
dysplastic pathogenetic mechanism involving not only the index fingers but
also perhaps other tissues outside. We think that for the moment the defin
ition of COIF for this syndrome should be maintained, the alternative propo
sed term "congenital onychodysplasia" being too indefinite. (C) 2001 Wiley-
Liss, Inc.