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A comparative study between electron microscopy and immunofluorescence mapping in the diagnosis of epidermolysis bullosa

Identifieur interne : 001D87 ( Main/Exploration ); précédent : 001D86; suivant : 001D88

A comparative study between electron microscopy and immunofluorescence mapping in the diagnosis of epidermolysis bullosa

Auteurs : Eleni Yiasemides ; Judie Walton ; Penelope Marr ; Elmer V. Villanueva [Australie] ; Dédée F. Murrell

Source :

RBID : ISTEX:162A1E1C6D9FCB8D9FC65ECFA8891C0CD8B8B234

English descriptors

Abstract

INTRODUCTION: The classification of epidermolysis bullosa (EB) into 3 main subtypes has been based on electron microscopy (EM) that is able to directly visualize and quantify specific ultrastructural features. Immunofluorescence antigenic mapping (IFM) is a technique that determines the precise level of skin cleavage by determining the site of binding of a series of antibodies. To date, no study has compared the accuracy of these two techniques in diagnosing the major types of EB. METHODS: A prospective cohort of 33 patients thought to have EB on clinical grounds had both EM and IFM. The sensitivity and specificity of EM and IFM were calculated using the genetic results as the ‘gold standard’. Statistical analysis involved the determination of positive and negative predictive values, accuracies, positive and negative likelihood ratios and post‐test probabilities of the IFM and EM diagnosis being correct compared to genetic diagnosis. RESULTS: 30/33 cases had a positive EB diagnosis. TEM subclassified EB into its three major forms in 24/30 cases (80%) and IFM in 29/30 cases (97%). Overall, TEM sensitivities and specificities when compared to genetic results were 71% and 81%, respectively. IFM sensitivities and specificities when compared to genetic results were 97% and 100% respectively. If a patient tested positive for EB by IFM, the likelihood ratio of having a particular type of EB was consistently greater than 20 against the reference standard (compared to a likelihood ratio less than 10 for TEM). CONCLUSION: These findings dispute the contention that EM and IFM are equally accurate and sensitive as diagnostic tests for the classification of the major types of EB. The results indicate that the diagnosis of EB is improved (sometimes substantially) by the use of IFM compared to TEM.

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DOI: 10.1111/j.1440-0960.2006.00311_7.x


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<div type="abstract" xml:lang="en">INTRODUCTION: The classification of epidermolysis bullosa (EB) into 3 main subtypes has been based on electron microscopy (EM) that is able to directly visualize and quantify specific ultrastructural features. Immunofluorescence antigenic mapping (IFM) is a technique that determines the precise level of skin cleavage by determining the site of binding of a series of antibodies. To date, no study has compared the accuracy of these two techniques in diagnosing the major types of EB. METHODS: A prospective cohort of 33 patients thought to have EB on clinical grounds had both EM and IFM. The sensitivity and specificity of EM and IFM were calculated using the genetic results as the ‘gold standard’. Statistical analysis involved the determination of positive and negative predictive values, accuracies, positive and negative likelihood ratios and post‐test probabilities of the IFM and EM diagnosis being correct compared to genetic diagnosis. RESULTS: 30/33 cases had a positive EB diagnosis. TEM subclassified EB into its three major forms in 24/30 cases (80%) and IFM in 29/30 cases (97%). Overall, TEM sensitivities and specificities when compared to genetic results were 71% and 81%, respectively. IFM sensitivities and specificities when compared to genetic results were 97% and 100% respectively. If a patient tested positive for EB by IFM, the likelihood ratio of having a particular type of EB was consistently greater than 20 against the reference standard (compared to a likelihood ratio less than 10 for TEM). CONCLUSION: These findings dispute the contention that EM and IFM are equally accurate and sensitive as diagnostic tests for the classification of the major types of EB. The results indicate that the diagnosis of EB is improved (sometimes substantially) by the use of IFM compared to TEM.</div>
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