Abstract
We have studied nine patients who presented with pigmentary anomalies of the skin in association with other congenital malformations; in eight, we demonstrated chromosomal mosaicism in lymphocytes and/or skin fibroblasts. A review of the literature revealed 25 similar examples of an association between pigmentary anomalies and chromosomal mosaicism or chimerism. The pigmentation varied but usually followed a pattern known as Blaschko lines. Our findings indicate a relationship between aberrant skin pigmentation and chromosomal mosaicism, and suggest a developmental explanation for the pigmentary patterns seen in chromosomal or genetic mosaicism and in chimerism. Further, they emphasize the need for extensive cytogenetic investigation of patients who present with pigmentary abnormalities and associated malformations.
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Thomas, T., Cantu, E. & Frias, J. PIGMENTARY ABNORMALITIES AND CHROMOSOMAL AND GENETIC MOSAICISM AND CHIMERISM. Pediatr Res 21 (Suppl 4), 294 (1987). https://doi.org/10.1203/00006450-198704010-00763
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DOI: https://doi.org/10.1203/00006450-198704010-00763
