Phylloid pattern of pigmentary disturbance in a case of complex mosaicism

Among the various types of pigmentary disturbances associated with mosaicis m, the phylloid pattern (Greek phyllon = leaf, eidos = form) is characteriz ed by multiple leaf-like patches reminiscent of an art nouveau painting. Th e number of eases displaying this unusual pattern is so far limited. We des cribe a phylloid pattern of hypomelanosis in a 3-year-old girl with multipl e congenital anomalies including microcephaly, midfacial hypoplasia, cleft lip, coloboma, posteriorly rotated cars, pectus carinatum, and pronounced m ental and physical retardation. In addition, this child had oval or oblong patches of hyperpigmentation involving the trunk in a horizontal arrangemen t dissimilar from the phylloid hypomelanotic pattern. In peripheral blood l ymphocytes a karyotype 46,XX,-13,+t(13q;13q) was consistently found, wherea s cultured skin fibroblasts showed a complex form of mosaicism comprising t hree different abnormal cell lines (46,XX,-13,+t(13q;13q)/45,XX,-13/45,XX,- 13,+frag). This case provides further evidence that the phylloid pattern re presents a separate category of pigmentary disturbance to be distinguished from other types of cutaneous mosaicism such as the lines of Blaschko or th e checkerboard arrangement. (C) 2001 Wiley-Liss, Inc.