A Case Report of Bart Syndrome with Brachydactyly of the Great Toe: A Rare Entity

Bart syndrome is characterized by the triad of aplasia cutis congenita (ACC), epidermolysis bullosa (EB), and nail abnormalities. We report a rare case of Bart syndrome presenting with ACC, nail abnormalities, and congenital brachydactyly of the left great toe in a neonate with genetically confirmed dominant dystrophic EB. The diagnosis was supported by next-generation sequencing, which identified a heterozygous COL7A1 c.6007G>A (p.Gly2003Arg) variant. The patient was managed conservatively with topical antibiotics, nonadherent dressings, and temporary keratinocyte allograft application, resulting in spontaneous epithelialization without major complications. This case underscores congenital brachydactyly as a rare extracutaneous association of Bart syndrome and highlights the diagnostic value of molecular testing, as well as the potential effectiveness of conservative management in achieving a favorable outcome.