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Epidermolysis bullosa simplex migratory circinate erythema (EBS‐Migr) is an uncommon subtype of EBS. We report a case of EBS‐MIGR with a novel heterozygous pathogenic mutation in exon 9 (frameshift deletion… Click to show full abstract
Epidermolysis bullosa simplex migratory circinate erythema (EBS‐Migr) is an uncommon subtype of EBS. We report a case of EBS‐MIGR with a novel heterozygous pathogenic mutation in exon 9 (frameshift deletion c.1650delC) and likely benign heterozygous mutation in exon 2 (missense c.591C > A) of keratin 5. This novel pathogenic mutation in KRT5 expands the molecular spectrum of this rare subtype of EBS.
Keywords:
circinate erythema;
migratory circinate;
simplex migratory;
bullosa simplex;
epidermolysis bullosa;
mutation
Journal Title: Pediatric Dermatology
Year Published: 2020
Link to full text (if available)
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Journal Title: Pediatric Dermatology
Year Published: 2020
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!