Incontinentia pigmenti (Bloch-Sulzberger's disease) is an X-linked dominantly inherited disorder which is usually lethal in hemizygous males, but rarely found in male infants. It can be explained by the presence of an extra X chromosome (Klinefelter's syndrome), hypomorphic mutations, and somatic mosaicism. We herein report a rare case of incontinentia pigmenti with typical course of skin manifestation in normal karyotype (46, XY) male infant.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4903964 | PMC |
| http://dx.doi.org/10.5021/ad.2008.20.3.134 | DOI Listing |
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