Research results from University of Medicine & Dentistry of New Jersey update knowledge of incontinentia pigmenti
2007 JUL 3 -- Research findings, "Incontinentia pigmenti (Bloch-Sulzberger syndrome): a systemic disorder," are discussed in a new report. According to a study from the United States, "Incontinentia pigmenti (IP) is a rare inherited multisystem disorder characterized by a distinctive swirling pattern of the skin; defects of teeth, hair, and nails; and ophthalmic, central nervous system, and musculoskeletal abnormalities. It progresses through several well-defined stages." "IP is transmitted as a dominant X-linked trait with variable expressivity, but many--if not most--cases are sporadic. IP has been shown to result from mutations in the NEMO gene that completely abolish expression of NF-kappaB essential modulator. The diagnosis of IP typically is made based on characteristic clinical findings. Molecular analysis of the NEMO gene is now possible, as is analysis of skewed X-chromosome inactivation, which can further reduce diagnostic confusion. A number of disorders, including hypomelanosis of Ito, should be considered in the differential diagnosis. The considerations vary according to the stage of IP. Careful head-to-toe clinical evaluation is critical in the evaluation of a child with suspected IP given the frequent multisystem involvement. A multidisciplinary approach including dermatology, ophthalmology, neurology, and dental consults is typically warranted," wrote M. Ehrenreich and colleagues, University of Medicine & Dentistry of New Jersey. The researchers concluded: "The skin manifestations of IP do not require specific treatment other than reassurance; spontaneous resolution of the lesions usually occurs." Ehrenreich and colleagues published their study in Cutis (Incontinentia pigmenti (Bloch-Sulzberger syndrome): a systemic disorder. Cutis, 2007;79(5):355-62). For more information, contact M. Ehrenreich, Dermatology and Pediatrics, UMDNJ-New Jersey Medical School, Newark 07103-2714 USA. Publisher contact information for the journal Cutis is: Quadrant Healthcom Inc., 26 Main St., Ste. a, Chatham, NJ 07928-2402, USA. Keywords: United States, Dentistry, Incontinentia Pigmenti. This article was prepared by Life Science Weekly editors from staff and other reports. Copyright 2007, Life Science Weekly via NewsRx.com.
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