Publication
Title
Linear and whorled nevoid hypermelanosis with bilateral giant cerebral aneurysms
Author
Abstract
A 24-year-old woman presented with bilateral giant intracavernous carotid artery aneurysms manifesting as a cavernous sinus syndrome on the left side, and anisocoria, ophthalmic pain, and oculomotor paresis on the left side. Physical examination showed mild hyperextensibility of the metacarpophalangeal joints, amelogenesis imperfecta, and hyperpigmentation following Blaschko lines. Analysis of the NEMO gene for incontinentia pigmenti syndrome and of collagen III for Ehlers-Danlos type IV was normal. Skewed X-inactivation patterns in blood lymphocytes were detected. To the best of our knowledge, this association of linear hyperpigmentation and cerebral aneurysms has never been previously reported. (C) 2002 Wiley-Liss, Inc.
Language
English
Source (journal)
American journal of medical genetics. - New York, N.Y., 1977 - 2002
Publication
New York, N.Y. : 2002
ISSN
0148-7299
Volume/pages
112 :1 (2002) , p. 95-98
ISI
000177684000019
Full text (Publisher's DOI)
UAntwerpen
Publication type
Subject
External links
Web of Science
Record
Identification
Creation 05.11.2018
Last edited 04.09.2021