Incontinentia Pigmenti: A Comprehensive Review and Update. Ophthalmic Surg Lasers Imaging Retina 2015 Jun;46(6):650-7
Date
06/27/2015Pubmed ID
26114846DOI
10.3928/23258160-20150610-09Scopus ID
2-s2.0-84937061362 (requires institutional sign-in at Scopus site) 76 CitationsAbstract
Incontinentia pigmenti (IP) is a rare syndrome with skin lesions, ocular abnormalities in the retina and elsewhere, central nervous system abnormalities, and teeth defects. The authors present an updated review of the literature, highlighting diagnosis, epidemiology, pathophysiology, clinical features, and management of IP. IP is an X-linked dominant syndrome with an incidence of 0.0025%; most patients are female. IP is caused by a mutation in the IKBKG gene, causing a loss of function of NF-κß, leaving cells susceptible to apoptosis from intrinsic factors. The cardinal feature of IP is four stages of skin distinctive lesions. Of those with IP, 36.5% have detectable eye pathology and 60% to 90% of those have retinal issues. Peripheral avascularity and macular occlusive disease commonly occur. The authors performed a comprehensive review of Medline from 1947 to 2014. All papers mentioning IP in ophthalmologic journals were reviewed as well as applicable publications from other medical specialties.
Author List
Swinney CC, Han DP, Karth PAMESH terms used to index this publication - Major topics in bold
HumansI-kappa B Kinase
Incidence
Incontinentia Pigmenti
Mutation
Retinal Diseases
Sex Factors
