544 Incontinentia pigmenti in a male infant and a proposed diagnostic algorithm

A Case of a Surviving Male Infant with Incontinentia Pigmenti.

Incontinentia pigmenti (Bloch-Sulzberger's disease) is an X-linked dominantly inherited disorder which is usually lethal in hemizygous males, but rarely found in male infants. It can be explained by the presence of an extra X chromosome (Klinefelter's syndrome), hypomorphic mutations, and somatic mosaicism. We herein report a rare case of incontinentia pigmenti with typical course of skin manif...

Incontinentia pigmenti diagnostic criteria update.

In 1993 diagnostic criteria for incontinentia pigmenti (IP), a genodermatosis in which skin changes are usually combined with anomalies of other organs, were established. Approximately a decade ago, IKBKG gene mutation was discovered as a cause for IP. This finding has not been included in IP diagnosis so far. In addition, literature data pointed out a few other clinical findings as possible IP...

Incontinentia pigmenti: a rare genodermatosis in a male child.

Incontinentia pigmenti is rare X-linked dominant disorder. There is no consistent expression of Incontinetia pigmenti in female child, but in male child, they always lead to death in utero. Vesicular, verrucous, hyperpigmented, and atrophic stages are the four stages of Incontinetia Pigmenti and it is uncommon for all stages to be seen in a same case. It is a rare genodermatosis, with only very...

Diagnostic and molecular genetic challenges in male incontinentia pigmenti: a case report.

Gonadal mosaicism for incontinentia pigmenti in a healthy male.

Incontinentia pigmenti (IP) is a genodermatosis that segregates as an X linked dominant trait with male lethality. The disease has been linked to Xq28 in a number of studies. A few affected males have been documented, most of whom have a 47,XXY karyotype. We report a family with two paternally related half sisters, each affected with IP. The father is healthy, clinically normal, and has a 46,XY...