期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 185, 期 2, 页码 625-630出版社
WILEY
DOI: 10.1002/ajmg.a.61975
关键词
collagen Type VII genetics; collagen Type VII metabolism; Epidermolysis bullosa dystrophica; fluorescent antibody technique
资金
- National Medical Research Council [NMRC/CG/006/2013, NMRC/CG/M003/2017]
- Science and Engineering Research Council [A*STAR-BMRC-EDB IAF-PP (H17/01/a0/004), A*STAR-BMRC-EDB IAF-SPF (SPF2013/004), A*STAR-BMRC-EDB IAF-SPF GODAFIT (SFP2012/005)]
- Universitas padjadjaran, Indonesia [872/UN6.3.1/LT/2017]
This case report describes five patients from Southeast Asia with self-improving dystrophic epidermolysis bullosa, characterized by predominantly acral-distributed blisters and erosions that resolve over several months. Genetic analysis revealed pathogenic variants in COL7A1 not previously reported. The clinical diagnosis in these rare patients is confirmed with molecular histology and genetic characterization.
Self-improving dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by significant improvement in skin fragility within the first few years of life. Genetic inheritance has previously been reported as autosomal dominant or recessive with both forms harboring mutations in COL7A1. To date, there have been no reports of this rare clinical entity from various Southeast Asian ethnicities. Here, we describe the clinical and molecular features of five patients from the Southeast Asia region who presented with predominantly acral-distributed blisters and erosions in the first few days of life. Blistering resolved over several months, without appearance of new blisters. By immunofluorescence, intraepidermal retention of Type VII collagen was observed in all patient skin biopsies when investigated with antibody staining. Genetic analysis of four patients revealed pathogenic variants in COL7A1 which have not been previously reported. The clinical diagnosis in these rare patients is confirmed with molecular histology and genetic characterization.
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