PHYLLOID PIGMENTARY PATTERN WITH MOSAIC TRISOMY-13

In most patients with hypomelanosis of Ito, the hypopigmentation is ch aracterized by narrow bands following the lines of Blaschko. We report a 13-year-old severely retarded girl with leaf-shaped patches of hypo pigmentation on the back together with short stature, scoliosis, facia l dysmorphism, and asymmetrical leg length, The cytogenetic examinatio n of both lymphocytes and fibroblasts demonstrated a mosaicism of 46,X X/47,XX,+13. This result was confirmed by in situ hybridization using a chromosome 13-specific library in interphase cells, The pigmentary d isturbance of our patient was similar to the phylloid pattern (type 3) of the classification of pigmentary patterns postulated by Happle, Th is type has been described in four patients so far, along with additio nal anomalies and a chromosomal mosaisicm in two patients.