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Incontinentia pigmenti in a Male Infant with Klinefelter Syndrome: A Case Report and Review of the Literature

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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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Document Type: Research Article

Affiliations: 1: Department of Skin and Venereal Diseases, Kaunas University of Medicine, Lithuania 2: Department of Neonatology, Kaunas University of Medicine, Lithuania 3: Laboratory of Immunology and Genetics, Kaunas University of Medicine, Lithuania

Publication date: September 1, 2010

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