Clinical Study of 40 Cases of Incontinentia Pigmenti

Abstract

INCONTINENTIA PIGMENTI (IP), or Bloch-Sulzberger syndrome, is a rare X-linked dominant genodermatosis that affects mostly female patients and is usually lethal for males in utero. It is a multisystem disorder, primarily of ectodermal origin, accompanied by dental, ocular, and central nervous system disorders such as seizures, spastic paralysis, microcephaly, and mental retardation.^1,2 The typical phenotype results from a functional mosaicism, itself a consequence of lyonization (the random inactivation of one of the two X chromosomes in women).³