Pigmentary mosaicism with mosaic chromosome 5p tetrasomy

Abstract

Pigmentary mosaicism with mosaic chromosome 5p tetrasomy is described. A 5-year-old girl had phylloid hyperpigmentation segregated in the midline, and neurological deficits. Chromosome analysis performed on blood lymphocytes was normal, whereas skin fibroblasts from affected skin areas revealed chromosomal mosaicism.