A Case of a Surviving Male Infant with Incontinentia Pigmenti
Annals of Dermatology
;
: 134-137, 2008.
Article
in English
| WPRIM
| ID: wpr-100124
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Skin Manifestations
/
X Chromosome
/
Incontinentia Pigmenti
/
Karyotype
/
Mosaicism
Limits:
Humans
/
Infant
/
Male
Language:
English
Journal:
Annals of Dermatology
Year:
2008
Type:
Article
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