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