Bart syndrome associated with skeletal deformities: An uncommon case report

Abstract

Bart syndrome is a rare genetic disorder characterized by aplasia cutis congenita, epidermolysis bullosa (EB), and nail abnormalities. We reported an unusual case of Bart syndrome associated with skeletal abnormalities and bilateral clubfoot.

Dominant dystrophic epidermolysis bullosa with congenital absence of skin and brachydactyly of the great toes

“…While some reports did not disclose the inheritance pattern of DEB, most patients with reported genetic mutations had RDEB. In addition, several patients with Bart's syndrome were reported to have CAS, EB, and foot deformities, such as talipes equinovarus deformity, calcaneal planovalgus, retraction of the foot, and metatarsal varus deformities 15,23,24 . A limitation in reviewing these cases is the lack of detail describing the congenital or acquired nature of these deformities and inheritance pattern of DEB.…”

“…In addition, several patients with Bart's syndrome were reported to have CAS, EB, and foot deformities, such as talipes equinovarus deformity, calcaneal planovalgus, retraction of the foot, and metatarsal varus deformities. 15,23,24 A limitation in reviewing these cases is the lack of detail describing the congenital or acquired nature of these deformities and inheritance pattern of DEB. In contrast to acquired musculoskeletal abnormalities likely caused by recurrent blistering, a mechanism to explain the association between congenital musculoskeletal abnormalities, such as brachydactyly, has yet to be proposed.…”