The practical diagnostic approach for hereditary Epidermolysis Bullosa in the era of next generation sequencing

Bryan Edgar K Guevara; Wei-ting Tua; Ping-chen Hou; Hsin-yu Huang; Jessica Chen; Chao-kai Hsu

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The practical diagnostic approach for hereditary Epidermolysis Bullosa in the era of next generation sequencing

Author: Bryan Edgar K. Guevara ^{1
,

2} ; Wei-Ting Tua ³ ; Ping-Chen Hou ³ ; Hsin-Yu Huang ³ ; Jessica Chen ⁴ ; Chao-Kai Hsu ^{1
,

4
,

5}
Author Information

1. Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan
2. Department of Dermatology, Southern Philippines Medical Center, Davao, Philippines
3. School of Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan
4. Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan
5. International Research Center of Wound Repair and Regeneration (iWRR), National ChengKungUniversity,Tainan, Taiwan
Publication Type:Other Types
MeSH: Epidermolysis Bullosa
From: Journal of the Philippine Dermatological Society 2019;28(1):6-9
CountryPhilippines
Language:English
Abstract: 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, predict- ing prognoses, clarifying the pathogenesis, and developing new therapies. In many developing countries, however, modern laboratory techniques remain inaccessible. Therefore, a practical diagnosticmatrix has been developed to predictthe diagnosis and subtype of EB. In thisreview,we highlight themolecular and practicaltechniquesin diagnosing hereditary EB.
Full text:jpds 12.pdf