A Case of a Surviving Male Infant with Incontinentia Pigmenti.
- Author:
Ji Young SONG
1
;
Chan Ho NA
;
Byoung Soo CHUNG
;
Kyu Cherl CHOI
;
Bong Seok SHIN
Author Information
- Publication Type:Case Report
- Keywords: Bloch-Sulzberger's disease; Incontinentia pigmenti
- MeSH: Humans; Incontinentia Pigmenti; Infant; Karyotype; Male; Mosaicism; Skin Manifestations; X Chromosome
- From:Annals of Dermatology 2008;20(3):134-137
- CountryRepublic of Korea
- Language:English
- 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.
