کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
5569852 | 1564327 | 2017 | 8 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Incontinentia Pigmenti: AÂ Summary Review of This Rare Ectodermal Dysplasia With Neurologic Manifestations, Including Treatment Protocols
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کلمات کلیدی
موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
پریناتولوژی (پزشکی مادر و جنین)، طب اطفال و بهداشت کودک
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![عکس صفحه اول مقاله: Incontinentia Pigmenti: AÂ Summary Review of This Rare Ectodermal Dysplasia With Neurologic Manifestations, Including Treatment Protocols Incontinentia Pigmenti: AÂ Summary Review of This Rare Ectodermal Dysplasia With Neurologic Manifestations, Including Treatment Protocols](/preview/png/5569852.png)
چکیده انگلیسی
Incontinentia pigmenti is a rare neuroectodermal dysplasia caused by a defect in the IKBKG gene (formerly known as NEMO). There are 27.6 new cases per year worldwide; 65% to 75% are sporadic mutations, and 25% to 35% are familial. It is usually lethal in males, but females survive because of X-inactivation mosaicism. The disorder is typically identified by unique skin findings, a series of four stages that emerge throughout the first year of life. The central nervous system manifestations in the eye and in the brain cause the most disability. Defects of hair, nails, and teeth occur, and there can be other systemic involvement. Surveillance protocols for medical management have been established by the Incontinentia Pigmenti International Foundation. This article will summarize the existing knowledge of this condition and detail the protocols to help manage the care of the infant or child who presents with incontinentia pigmenti.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of Pediatric Health Care - Volume 31, Issue 6, NovemberâDecember 2017, Pages e45-e52
Journal: Journal of Pediatric Health Care - Volume 31, Issue 6, NovemberâDecember 2017, Pages e45-e52
نویسندگان
Carol MSN, PNP-BC,