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Incontinentia pigmenti in a male infant with Klinefelter syndrome

Authors
Journal
Journal of the American Academy of Dermatology
0190-9622
Publisher
Elsevier
Publication Date
Volume
20
Issue
5
Identifiers
DOI: 10.1016/s0190-9622(89)70114-6

Abstract

Abstract Incontinentia pigmenti is a familial disorder affecting tissues derived from neuroectoderm. Statistical analysis of reported pedigrees is consistent with transmission of incontinentia pigmenti by an X-Iinked dominant gene with male hemizygote lethality. This report describes a male infant with the classic clinical features of this condition and a 47.XXY chromosomal constitution. These findings support the concept that incontinentia pigmenti is an X-linked dominant disorder. This case illustrates the importance of a full genetic investigation in all males with physical findings suggestive of an X-linked dominant disorder lethal in males.

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