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.
Buinauskaite
Evelina
E
Department of Skin and Venereal Diseases, Kaunas University of Medicine, Kaunas, Lithuania. buinauskaitei@yahoo.com
Buinauskiene
Jurate
J
Kucinskiene
Vesta
V
Strazdiene
Dale
D
Valiukeviciene
Skaidra
S
D002869:Chromosome Aberrations; D006801:Humans; D007184:Incontinentia Pigmenti / Q000209:etiology* / Q000235:genetics*; D007231:Infant, Newborn; D007713:Klinefelter Syndrome / Q000150:complications* / Q000235:genetics*; D008297:Male