Abstract
Journal of Paediatrics and Child HealthVolume 50, Issue 11 p. 934-935 Letter to the EditorFree Access Answer First published: 06 November 2014 https://doi.org/10.1111/jpc.12562_2AboutSectionsPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Incontinentia pigmenti is a rare, X-linked dominant disorder that presents at or soon after birth with characteristic cutaneous findings. The skin lesions usually present within the first 2 weeks of life and have four phases: vesicular, verrucous, hyperpigmented and atrophic. Overlap between them may occur. In the verrucous phase (seen in this case), the lesions tend to appear in the distal part of the limbs as the blisters began to heal. Non-cutaneous manifestations involve the teeth (hypodontia, anodontia and conical teeth), eye (strabismus, cataract and optic nerve atrophy) and the central nervous system (convulsions, spastic paralysis and motor retardation). The pathophysiology of the central nervous system problems is poorly understood but vascular, developmental, inflammatory, destructive and infectious processes have been proposed as possible mechanisms.1 Mutations in the NEMO gene (Xq28) that completely abolish expression of the NF-kappaB essential modulator are responsible for the disorder. A large deletion of NEMO exons 4 to 10 is found in approximately 80% of the patients.2 References 1Shuper A, Bryan RN, Singer HS. Destructive encephalopathy in incontinentia pigmenti: a primary disorder? Pediatr. Neurol. 1990; 6: 137– 140. CrossrefCASPubMedWeb of Science®Google Scholar 2Smahi A, Courtois G, Vabres P et al. Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature 2000; 405: 466– 472. CrossrefCASPubMedWeb of Science®Google Scholar Volume50, Issue11November 2014Pages 934-935 ReferencesRelatedInformation
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