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Ocular Findings of Incontinentia Pigmenti in a Male Infant With Klinefelter Syndrome

1992; Slack Incorporated (United States); Volume: 29; Issue: 3 Linguagem: Inglês

10.3928/0191-3913-19920501-13

1938-2405

Susan M. Fowell, Mark J. Greenwald, Julie Prendiville, Lee M. Jampol,

Cancer and Skin Lesions

ABSTRACT A male infant with Klinefelter karyotype (47, XXY) manifested both the typical dermatologie findings of the X-linked dominant disorder incontinentia pigmenti (BlochSulzberger syndrome) and ocular findings including retinal pigmentary changes, peripheral retinal avascularity, and preretinal fibrovascular proliferation. To our knowledge, this is the first reported case of incontinentia pigmenti with this specific abnormal genotype manifesting ocular findings.