Using immunofluorescence (antigen) mapping in the diagnosis and classification of epidermolysis bullosa: a first report from Iran

Barzegar, Mohammadreza; Asadi-Kani, Zahra; Mozafari, Nikoo; Vahidnezhad, Hassan; Kariminejad, Ariana; Toossi, Parviz

doi:10.1111/ijd.12804

Cited by 14 publications

(22 citation statements)

References 20 publications

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“…Concerning the second-frequency subtypes, these were EBS, gen-sev and DDEB, gen-sev or RDEB in the Netherlands" study, while in the present study were EBS, gen-i and RDEB, gen. 15 Similarly to our results, a study in Scotland demonstrated that the rarest subtype of EBS was generalized severe and the most common one of DEB was DDEB, gen followed by RDEB subtypes. 17 On the contrary, in one study in Italy and in another study in Croatia, the most frequent subtype of EBS was generalized following intermediate followed by the localized form and the most common ones of DEB were either DDEB, following gen-sev or following RDEB pursued by DDEB, gen.…”

Section: Discussionsupporting

confidence: 89%

“…[8][9][10][11][12][13][14][15] However, there are seven other studies, which demonstrate that the most common type is EBS, pursued by DEB. In these studies, JEB follows next, while KS is recorded as the least common type of EB.…”

Section: Discussionmentioning

confidence: 99%

“…[1][2][3][4]8,10,12,14,15,20 To our knowledge, patient with JEB, gen-i, who presented demyelinating disease (multiple sclerosis) has not been described in literature until present day.…”

Section: Discussionmentioning

confidence: 99%

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Epidermolysis bullosa in Greece: the patients’ journey so far

et al. 2018

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Background: Hereditary epidermolysis bullosa (EB) represents a group of rare, inherited disorders with different penetrance patterns characterized by skin fragility and easy inducibility of blisters. Mucosal involvement of internal organs may occur. As no published data on EB in Greece exist, this study aimed to record demographics and clinical characteristics of EB patients. Another objective was to identify the associations among clinical characteristics of different types in connection with immunofluorescence mapping (IMF) findings and molecular analysis (MA) used for the laboratory diagnosis of the disease.Methods: This is a descriptive study conducted at the outpatient clinic of rare diseases of Andreas Sygros Hospital, Athens, Greece from March 2012 until February 2015. Adults and children presenting with EB were enrolled. Patients underwent a thorough clinical and laboratory assessment. Specific laboratory analyses were performed in Rome and two sets of data based on IFM and MA were collected.Results: In total, 41 patients were enrolled. Prevalence rate of EB was 0.024%. The most frequent type was dystrophic EB, as it affected 20 patients (48.8%). Twelve patients (29.3%) were diagnosed with EB simplex, 6 patients (14.6%) with Kindler syndrome and 3 (7.3%) with junctional EB. IFM was performed in 26 patients and MA in 8 patients. The concordance among clinical and laboratory diagnosis was 88.5%.Conclusions: This study is the first report on hereditary EB in Greece. Since there is a lack in diagnostic management of EB, we would strongly encourage an effort to perform the required laboratory tests in Greece.

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Section: Discussionsupporting

confidence: 89%

Section: Discussionmentioning

confidence: 99%

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Epidermolysis bullosa in Greece: the patients’ journey so far

et al. 2018

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“…Although easily accessible and successfully implemented in many countries, IFM is not readily available in India due to lack of infrastructure and financial constraints. The purpose of IFM is to classify EB into its major types and identify a candidate gene that can be screened for potentially pathogenic variations [3,4,[7][8][9][10][11] . Without an extended panel of antibodies, it will be difficult to achieve this in resourcelimited settings.…”

Section: Discussionmentioning

confidence: 99%

“…Upon comparison with genetic diagnosis, both IHC and IFM showed a concordance rate of 80.9% ( p < 0.001). Till date, only 5 case series showed the utility of IFM and other nonmolecular tests in establishing a diagnosis of EB [3,4,[7][8][9] . Recently, Hiremagalore et al [8] published the only and largest series of IFM studies in EB patients from India and reported a concordance of only 57% using a similar limited panel of antibodies.…”

Section: Discussionmentioning

confidence: 99%

Diagnosis of Inherited Epidermolysis Bullosa in Resource-Limited Settings: Immunohistochemistry Revisited

Yenamandra

Bhari

Ray³

et al. 2017

Dermatology

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Background: Immunofluorescence (IFM) antigen mapping is the most commonly used technique to diagnose and differentiate epidermolysis bullosa (EB). In India, IFM is limited to few research laboratories and is not readily available, making the diagnosis largely clinical and often inaccurate. Ob jective of the Study: To examine the diagnostic usefulness of immunohistochemistry (IHC) as compared to IFM in resource-limited settings. Methods: Forty-four consecutive EB patients were included in this study. IHC and IFM were performed on 7-µm frozen tissue sections using standard laboratory protocols with a limited panel of antibodies. The kappa coefficient of agreement was calculated with genetic analysis as the gold standard. Results: IFM and IHC accurately identified the subtype of EB in 80.9% (p < 0.001) of the cases, when a clear blister cavity was evident on biopsy. The sensitivities and specificities of IHC and IFM for diagnosing EB simplex, junctional EB, and dystrophic EB were 100, 100, and 60% and 82.4, 100, and 100%, respectively. IHC was equally effective (p < 0.001) in establishing the type of EB as IFM. Conclusions: IHC staining and its interpretation were simple and comparable to IFM. IHC had an advantage of showing subtle changes in the epidermal architecture that could not be appreciated on IFM and hence can be considered useful in resource-limited settings.

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