Immunofluorescence mapping in inherited epidermolysis bullosa: a study of 86 cases from India

Hiremagalore, Ravi; Kubba, Ali; Bansel, S.; Jerajani, Hemangi

doi:10.1111/bjd.13305

Cited by 24 publications

(29 citation statements)

References 13 publications

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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%

“…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. We feel that comparison with clinical diagnosis, that is known to be variable, could be the reason for such a low concordance [8] .…”

Section: Discussionmentioning

confidence: 99%

“…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. We feel that comparison with clinical diagnosis, that is known to be variable, could be the reason for such a low concordance [8] . Only 1 case series, till date, used an independent criterion standard (molecular diagnosis) to measure the diagnostic accuracy of each test [3] .…”

Section: Discussionmentioning

confidence: 99%

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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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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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

Yenamandra

Bhari

Ray³

et al. 2017

Dermatology

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“…42 In the present study, overall concordance of clinical and laboratory diagnosis was 88.5%, while the respective percentage of the study in India was 57%. 20 The high rate of concordance is attributed to the small number of infants in the present study and to the fact that all IFM results were conclusive.…”

Section: Discussionmentioning

confidence: 56%

“…[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%

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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Self‐improving dystrophic epidermolysis bullosa: First report of clinical, molecular, and genetic characterization of five patients from Southeast Asia

Bishnoi

Wei

et al. 2020

American J of Med Genetics Pt A

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Self‐improving dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by significant improvement in skin fragility within the first few years of life. Genetic inheritance has previously been reported as autosomal dominant or recessive with both forms harboring mutations in COL7A1. To date, there have been no reports of this rare clinical entity from various Southeast Asian ethnicities. Here, we describe the clinical and molecular features of five patients from the Southeast Asia region who presented with predominantly acral‐distributed blisters and erosions in the first few days of life. Blistering resolved over several months, without appearance of new blisters. By immunofluorescence, intraepidermal retention of Type VII collagen was observed in all patient skin biopsies when investigated with antibody staining. Genetic analysis of four patients revealed pathogenic variants in COL7A1 which have not been previously reported. The clinical diagnosis in these rare patients is confirmed with molecular histology and genetic characterization.

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Immunofluorescence mapping in inherited epidermolysis bullosa: a study of 86 cases from India

Abstract: This is the first large study of IFM of the subtypes of EB in Indian patients. The study provides a framework for better understanding of EB in Indian patients and for better diagnosis and management, particularly in infancy.

Cited by 24 publications

References 13 publications

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

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

Epidermolysis bullosa in Greece: the patients’ journey so far

Self‐improving dystrophic epidermolysis bullosa: First report of clinical, molecular, and genetic characterization of five patients from Southeast Asia

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