Pigmentary dysplasias and chromosomal mosaicism: report of 9 cases

Am J Med Genet. 1992 Jul 1;43(4):716-21. doi: 10.1002/ajmg.1320430413.


Chromosomes were studied in 9 individuals with pigmentary dysplasias of the skin and other abnormalities. Of the 9 individuals, 5 were chromosomal mosaics in both blood lymphocytes and skin fibroblasts (46,XY/47,XY, + 13;46,XX/47,XX, + 14;46,XY/47,XY, + 18;46,XX/47,XX, + 18;46, XX/47,XX, + mar), while the other 4 individuals were chromosomally normal in both tissues studied. The pigmentary dysplasias involved hypo- or hyperpigmented patches/flecks or lines/whorls. The latter ran along Blachko lines on the back, abdomen and the limbs. These patterns varied not only between individuals but also between different regions of an individual. The possibility of chimerism was studied but ruled out (1/32 to 1/256) in 7 individuals, using chromosomal heteromorphisms in the patients and their parents as markers.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Cells, Cultured
  • Child, Preschool
  • Female
  • Fibroblasts / pathology
  • Humans
  • Infant
  • Karyotyping
  • Lymphocytes / pathology
  • Male
  • Mosaicism*
  • Pigmentation Disorders / genetics*
  • Pigmentation Disorders / pathology
  • Skin / pathology