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The practical diagnostic approach for hereditary epidermolysis bullosa in the era of next generation sequencing


Authors: Bryan Edgar K. Guevara MD, Wei-Ting Tu MD, Ping-Chen Hou, Hsin-Yu Huang MD, Jessica Chen MD, Chao-Kai Hsu MD




The new era of molecular diagnostics has provided new insights in both routine clinical work and research in hereditary epidermolysis bullosa (EB). Several different approaches and techniques have provided significant advantages in terms of diagnostic accuracy, predicting prognoses, clarifying the pathogenesis, and developing new therapies. In many developing countries, however, modern laboratory techniques remain inaccessible. Therefore, a practical diagnostic matrix has been developed to predict the diagnosis and subtype of EB. In this review, we highlight the molecular and practical techniques in diagnosing hereditary EB



Guevara BEK, Tu WT, Hou PC, Huang HY, Chen J, Hsu CK. The practical diagnostic approach for hereditary epidermolysis bullosa in the era of next generation sequencing. J Phil Dermatol Soc 2019, 28(1), 6-9

Figure 1. The patient manifesting with multiple blisters, erosions, and atrophic scars


epidermolysis bullosa, molecular genetics, genodermatoses


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The practical diagnostic approach for hereditary epidermolysis bullosa in the era of next generation sequencing