Hypomelanosis of Ito: no entity, but a cutaneous sign of mosaicism

Abstract

Hypomelanosis of Ito is a neurocutaneous phenotype comprising pigmentary anomalies, neurological defects, structural malformations, and chromosomal abnormalities. It has been described as a distinct multisystem birth defect or, more specifically, as a neurocutaneous syndrome. The main purpose of this study is to provide evidence that this disorder does not exist as a syndrome. Rather, it is a causally nonspecific pigmentary disorder caused by genetic mosaicism.