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May 1976

Incontinentia Pigmenti and Klinefelter Syndrome

Arch Dermatol. 1976;112(5):729. doi:10.1001/archderm.1976.01630290071017

To the Editor.—  In their paper in the Archives titled "Incontinentia Pigmenti Achromians" (111:751, 1975), Griffiths and Payne present the very interesting case of a 5-year-old phenotypic male, who had several features classically considered to be characteristic of incontinentia pigmenti (IP). As they pointed out, Carney and Carney1 suggested that IP is transmitted as an X-linked dominant condition that is uniformly lethal in males. Considering this and the atypical characteristics of the case, an examination of the buccal mucosa for sex chromatin would have been useful to rule out chromosome complement of XXY, which could be a possible explanation. The clinical manifestations of Klinefelter syndrome do not become manifest until puberty, so that "a healthy looking child" does not exclude this condition. Also, Klinefelter syndrome is not uncommon, having an incidence higher than Down syndrome. Moore2 estimates that in the general population of males, at least 0.2% to 0.3%,