Clinical Practice Guidelines for Epidermolysis Bullosa Laboratory Diagnosis

C Has, L Liu, M Bolling, A V Charlesworth, M El Hachem, M J Escámez, I Fuentes, S Büchel, R Hiremagalore, G Pohla-Gubo, P van den Akker, K Wertheim-Tysarowska, G Zambruno

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Abstract

The overall objective of this guideline is to provide the user with information on the laboratory diagnosis of inherited epidermolysis bullosa (EB) to improve outcomes (Table 1). An accurate diagnosis and sub classification of EB enables (i) early prognostication of the disease severity, (ii) decision making for patient management, (iii) informed genetic counselling of the patient and family and DNA based prenatal or preimplantation genetic diagnosis, (iv) long-term surveillance and management of possible complications, (v) inclusion in clinical trials and (vi) precision medicine. The users of the guideline are dermatologists, neonatologists, paediatricians, geneticists and genetic counsellors, laboratory doctors and technicians, nurses and people living with EB and their families. The target group consists of patients with skin blistering or fragility, suspected of suffering from any type of EB. This article is protected by copyright. All rights reserved.

Original languageEnglish
JournalBritish Journal of Dermatology
DOIs
Publication statusE-pub ahead of print - May 15 2019

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Has, C., Liu, L., Bolling, M., Charlesworth, A. V., El Hachem, M., Escámez, M. J., Fuentes, I., Büchel, S., Hiremagalore, R., Pohla-Gubo, G., van den Akker, P., Wertheim-Tysarowska, K., & Zambruno, G. (2019). Clinical Practice Guidelines for Epidermolysis Bullosa Laboratory Diagnosis. British Journal of Dermatology. https://doi.org/10.1111/bjd.18128