Ann Dermatol.  2008 Sep;20(3):134-137. 10.5021/ad.2008.20.3.134.

A Case of a Surviving Male Infant with Incontinentia Pigmenti

• Song JY
• Na CH
• Chung BS
• Choi KC
• Shin BS

• KMID: 2156379
• DOI: http://doi.org/10.5021/ad.2008.20.3.134

Abstract

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 manifestation in normal karyotype (46, XY) male infant.

Keyword

Bloch-Sulzberger's disease; Incontinentia pigmenti

MeSH Terms

Humans
Incontinentia Pigmenti
Infant
Karyotype
Male
Mosaicism
Skin Manifestations
X Chromosome