Diagnosing Epidermolysis Bullosa Type and Subtype in Infancy Using Immunofluorescence Microscopy: The Stanford Experience

The natural history of inherited epidermolysis bullosa (EB) varies significantly across subtypes. When confronted with an infant suspected to have EB, rapidly determining the type and subtype is critical in counselling families accurately about the infant's diagnosis and prognosis. Although tra...

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Veröffentlicht in:Pediatric dermatology 2013-03, Vol.30 (2), p.226-233
Hauptverfasser: Berk, David R., Jazayeri, Leila, Marinkovich, M. Peter, Sundram, Uma N., Bruckner, Anna L.
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Sprache:eng
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Zusammenfassung:The natural history of inherited epidermolysis bullosa (EB) varies significantly across subtypes. When confronted with an infant suspected to have EB, rapidly determining the type and subtype is critical in counselling families accurately about the infant's diagnosis and prognosis. Although transmission electron microscopy (TEM) has been considered the criterion standard for EB diagnosis, immunofluorescence microscopy (IFM) using monoclonal antibodies (mAbs) to EB‐specific basement membrane zone proteins has several advantages, but few studies have evaluated the diagnostic utility of IFM. We sought to evaluate the clinical utility of IFM using an expanded panel of EB‐specific mAbs. This was a retrospective review of pathology reports from infants younger
ISSN:0736-8046
1525-1470
DOI:10.1111/j.1525-1470.2012.01880.x