x-chromosomal translocation and segmental hypopigmentation
TRANSCRIPT
images in clinical medicine
T h e n e w e ngl a nd j o u r na l o f m e dic i n e
n engl j med 367;13 nejm.org september 27, 2012 1245
AHispanic girl who had been born at term to healthy noncon-sanguineous parents was affected by brachycephaly, developmental delay, a mild cognitive deficit, and behavioral disturbances. Cytogenetic testing re-
vealed an apparently balanced translocation between an X chromosome and a chro-mosome 2 (breakpoints, Xp11.2 and 2q35). When the girl was seen for dermato-logic consultation at 8 years of age, we observed hypopigmentation streaks in a wavy pattern on the trunk (Panel A) and a linear pattern on the limbs (Panel B). Lines of Blaschko, believed to be the expression of clones of abnormal cells migrating to-ward the periphery during embryonic life, are visualized in a wide variety of geno-dermatoses. An enormous range of cytogenetic abnormalities can cause pigmentary mosaicism. In particular, Blaschkolinear hypopigmentation (also called hypo-melanosis of Ito) is typically linked to translocations between an X chromosome (loci Xp11.21 and Xp11.22) and an autosome.DOI: 10.1056/NEJMicm1009599Copyright © 2012 Massachusetts Medical Society.
X-Chromosomal Translocation and Segmental Hypopigmentation
Daniele Torchia, M.D., Ph.D.Lawrence A. Schachner, M.D.
University of Miami Miller School of MedicineMiami, [email protected]
A B
‘
The New England Journal of Medicine Downloaded from nejm.org at N C STATE UNIVERSITY on October 2, 2012. For personal use only. No other uses without permission.
Copyright © 2012 Massachusetts Medical Society. All rights reserved.