Incontinentia pigmenti, also known as Bloch-Sulzberger syndrome, is a hereditary, X-linked dominant disorder characterized by abnormalities of skin, hair, teeth, eyes, and the central nervous system. It is classically considered a male-lethal disorder leading to recurrent miscarriages of male fetuses. We report a rare case of a surviving baby boy with the classic clinical features of incontinentia pigmenti that can be explained by Klinefelter syndrome.
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