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 manifestation in normal karyotype (46, XY) male infant.
Department of Dermatology, Chosun University Medical School, Gwangju, Korea.
Ji Young
JY
Song
Department of Dermatology, Chosun University Medical School, Gwangju, Korea.
Chan Ho
CH
Na
Department of Dermatology, Chosun University Medical School, Gwangju, Korea.
Byoung Soo
BS
Chung
Department of Dermatology, Chosun University Medical School, Gwangju, Korea.
Kyu Cherl
KC
Choi
Department of Dermatology, Chosun University Medical School, Gwangju, Korea.
Bong Seok
BS
Shin
Bloch-Sulzberger's disease; Incontinentia pigmenti