Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism

Am J Hum Genet. 1989 Aug;45(2):193-205.


We have evaluated eight patients with pigmentary anomalies reminiscent of incontinentia pigmenti or hypomelanosis of Ito. All demonstrated abnormal lymphocyte karyotypes with chromosomal mosaicism in lymphocytes and/or skin fibroblasts. In seven the skin was darkly pigmented, and in all of these seven cases the abnormal pigmentation followed Blaschko lines. The literature contains at least 36 similar examples of an association between pigmentary anomalies and chromosomal mosaicism, as well as five examples of an association with chimerism. The pigmentary anomalies are pleomorphic, and the chromosomal anomalies involve autosomes and sex chromosomes. The pigmentation patterns are reminiscent of the archetypal paradigm seen in allophenic mice and demonstrate the clonal origin of melanoblasts from neural crest precursors. Patients with anomalous skin pigmentation, particularly when it follows a pattern of Blaschko lines, should be appropriately evaluated for a possible association with chromosomal or genetic mosaicism or chimerism.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Animals
  • Child
  • Child, Preschool
  • Chimera*
  • Chromosome Aberrations*
  • Disease Models, Animal
  • Female
  • Humans
  • Infant
  • Karyotyping
  • Lymphocytes / cytology
  • Male
  • Mice
  • Mosaicism*
  • Pigmentation Disorders / genetics*