Bart's syndrome (BS), characterized by aplasia cutis congenita (ACC, also called congenital localized absence of skin) and epidermolysis bullosa (EB), is diagnosed clinically based on the disorder's unique signs and symptoms. We report the case of a family, three members of which presented with ACC at birth and one had blisters on the mucous membranes. The patient was treated conservatively with topical antibacterial ointment and wet gauze dressing. Periodic follow up showed complete healing with minimal scarring. Whole-exome sequencing confirmed a heterozygous mutation (rs121912832, c.6007G>A, p.G2003R) within exon 73 of COL7A1, which was confirmed by the only two genetic studies available, is suggested to be the molecular basis for the family's disorder. As a consequence, we suggest that c.6007G>A within exon 73 of COL7A1 could be a specific mutation for BS in antenatal screening. It is of great value to extend the genetic test among affected families and uncover the mechanism behind this unique syndrome.
Keywords: Bart's syndrome; aplasia cutis congenita; epidermolysis bullosa; specific mutation; whole-exome sequencing.
© 2018 Japanese Dermatological Association.