Phylloid pattern of pigmentary disturbance in a case of complex mosaicism

✍ Scribed by Ribeiro Noce, Thelma ;de Pina-Neto, Jo�o Monteiro ;Happle, Rudolf

• Book ID: 101316458
• Publisher: John Wiley and Sons
• Year: 2001
• Tongue: English
• Weight: 318 KB
• Volume: 98
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/1096-8628(20010115)98:2<145::aid-ajmg1023>3.0.co;2-7

✦ Synopsis

Among the various types of pigmentary disturbances associated with mosaicism, the phylloid pattern (Greek phyllon = leaf, eidos = form) is characterized by multiple leaf-like patches reminiscent of an art nouveau painting. The number of cases displaying this unusual pattern is so far limited. We describe a phylloid pattern of hypomelanosis in a 3-year-old girl with multiple congenital anomalies including microcephaly, midfacial hypoplasia, cleft lip, coloboma, posteriorly rotated ears, pectus carinatum, and pronounced mental and physical retardation. In addition, this child had oval or oblong patches of hyperpigmentation involving the trunk in a horizontal arrangement dissimilar from the phylloid hypomelanotic pattern. In peripheral blood lymphocytes a karyotype 46,XX,-13,+t(13q;13q) was consistently found, whereas cultured skin fibroblasts showed a complex form of mosaicism comprising three 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 represents a separate category of pigmentary disturbance to be distinguished from other types of cutaneous mosaicism such as the lines of Blaschko or the checkerboard arrangement.