Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism.

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