Incontinentia pigmenti in a Male Infant with Klinefelter Syndrome: A Case Report and Review of the Literature |
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| Authors: | Evelina Buinauskaite M.D. Jurate Buinauskiene M.D. Ph.D. Vesta Kucinskiene M.D. Ph.D. Dale Strazdiene M.D. Skaidra Valiukeviciene M.D. Ph.D. |
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| Affiliation: | 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 |
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| Abstract: | Abstract: 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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