Monthly Archives: April 2021

Single glycine deletion in COL7A1 acting as glycine substitution in dystrophic epidermolysis bullosa

Posted on April 29, 2021 by

Dystrophic epidermolysis bullosa (DEB) is a genetic mechanobullous skin disorder caused by variants in the COL7A1-gene encoding type VII collagen (C7). C7 is the main constituent of anchoring fibrils, which play a major role in the dermo-epidermal adhesion. We report a novel COL7A1 single glycine deletion exerting the same pathological effect as glycine substitutions in its triple-helical domain (THD). Continue reading →






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Validation of questionnaire algorithm based on repeated open application testing (ROAT) with the constituents of fragrance mix II: The EDEN Fragrance Study

Posted on April 29, 2021 by

CONCLUSIONS: The algorithm used in this study was not validated but it was indicated in this ROAT setup. The stronger the patch test reactivity the more likely was a positive ROAT and the more likely it was that the positive ROAT appeared early during the application period. Continue reading →






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Assessment of Diagnostic Strategy for Mucous Membrane Pemphigoid

Posted on April 28, 2021 by

CONCLUSIONS AND RELEVANCE: This comparative diagnostic accuracy study of a cohort of 787 patients found a high sensitivity of a mucosal DIF biopsy for diagnosis of MMP, and lower sensitivity of serologic analysis. A biopsy can be taken from either perilesional or normal buccal mucosa. An additional DIF biopsy of another mucosal site or of affected or unaffected skin may increase the diagnostic yield and is recommended in patients with negative DIF results and high clinical suspicion. Continue reading →






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<em>Letter to the Editor:</em> Ordering the Chaos in Cannabinoid-Related Research: Is it Time for a Task Force on Taxonomy?

Posted on April 28, 2021 by

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Diagnostisches Next Generation Sequencing bei neonataler Erythrodermie

Posted on April 16, 2021 by

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