XP MICRODELETION SYNDROME CHARACTERIZED BY PATHOGNOMONIC LINEAR SKIN DEFECTS ON THE HEAD AND NECK

Authors
PAULGER BR KRAUS EW PULITZER DR MOORE CM
Citation
Br. Paulger et al., XP MICRODELETION SYNDROME CHARACTERIZED BY PATHOGNOMONIC LINEAR SKIN DEFECTS ON THE HEAD AND NECK, Pediatric dermatology, 14(1), 1997, pp. 26-30
Citations number
18
Categorie Soggetti
Dermatology & Venereal Diseases",Pediatrics
Journal title
Pediatric dermatology → ACNP
ISSN journal
07368046
Volume
14
Issue
1
Year of publication
1997
Pages
26 - 30
Database
ISI
SICI code
0736-8046(1997)14:1<26:XMSCBP>2.0.ZU;2-L
Abstract
We describe a new case of a rare syndrome characterized by ocular abno rmalities and pathognomonic linear skin defects. This syndrome is the result of an unbalanced translocation resulting in a deletion of the d istal end of the short arm of the X chromosome. We report the thirteen th case and review the clinical and cytogenetic aspects of this disord er, In addition we discuss new findings pertaining to the histopatholo gy of the skin lesions.