Hypomelanosis of ito associated with chromosomal translocation involving Xp11

We report on a 3‐year‐old girl with hypohelanosis of Ito (HI). She has typical skin letions and mild CNS involvement characerized by impaired walking and borderline hental retardation. Cytogenetic investigation showed a 18/X translocation with breakpoint on Xp11. This is the sixth case of HI in whcih this reakpoint has been reported, undrlining hat this event cannot be considered coinciental. Further studies are needed to undrtand the etiologic and pathogenetic meaning of this finding.