We report the case of a 16-month-old girl with hypomelanosis of Ito, a
relatively rare phe notype associated with neurocutaneous manifestati
ons. The characteristic hypopigmented streaks along the Blaschko lines
were associated with hypertrichosis of the genitals and shins, as wel
l as musculoskeletal and dental anomalies. An underlying endocrinologi
c disorder of the hypertrichosis could be excluded. This presumes foca
l hypertrichosis as another phenotypic expression of mosaicism in this
disease.