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KMID : 0032220080200030134
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Annals of Dermatology
2008 Volume.20 No. 3 p.134 ~ p.137
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A Case of a Surviving Male Infant with Incontinentia Pigmenti
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Song Ji-Young
Na Chan-Ho
Chung Byoung-Soo
Choi Kyu-Cherl
Shin Bong-Seok
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Abstract
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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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KEYWORD
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Bloch-Sulzberger`s disease, Incontinentia pigmenti
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