Molecular diagnostics and treatment of epidermolysis bullosa: Multidisciplinary synchronized care in pediatric dermatology

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Abstract

Epidermolysis bullosa (EB) refers to a group of genetic diseases characterized by increased fragility of epithelialized tissues with the clinical hallmark of mucocutaneous blistering after minor mechanical traumatization. A broad spectrum of cutaneous, extracutaneous and internal organ manifestations as well as primary and secondary complications cause significant morbidity and mortality and a high clinical, psychosocial and economic disease burden for patients and relatives. Although there is currently no approved curative treatment available for EB, significant advances in methodologies and techniques of molecular biology have yielded new insights into the pathogenetic processes, which boosted translational therapeutic perspectives. This is echoed by the increasing number of clinical studies in the field of EB. Current treatment approaches rely on two main strategies, i.e. corrective, potentially curative treatment approaches aiming at restoration of the defect gene or protein. In addition, disease-modifying and symptom-relieving treatment targets secondarily induced pathogenic pathways, such as dysregulated inflammatory cascades or distinct symptoms inherent to specific subtypes, such as fibrosis, pruritus or cancer. Refined molecular diagnostics enable an early and more accurate prognosis, which facilitates genetic counseling. The management of the multisystem disease EB is complex and requires a high level of expertise and interdisciplinary coordinated care. Such resources are provided by designated centers of expertise, such as the EB Haus Austria, which as a member of the European Reference Networks for Rare Skin Diseases (ERN-Skin) guarantees clinical care, basic and clinical research activities as well as access to training and further training programs for patients, caregivers and medical specialist personnel.

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CITATION STYLE

APA

Prodinger, C., Klausegger, A., Bauer, J. W., & Laimer, M. (2021, September 1). Molecular diagnostics and treatment of epidermolysis bullosa: Multidisciplinary synchronized care in pediatric dermatology. Monatsschrift Fur Kinderheilkunde. Springer Medizin. https://doi.org/10.1007/s00112-021-01256-z

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