Bart syndrome with musculoskeletal deformity: a rare case report.

Abstract

Introduction: Bart syndrome is a rare genetic disorder characterized by epidermolysis bullosa (EB), aplasia cutis congenita, that is congenital local absence of skin and nail abnormalities.

Case presentation: The authors herein, present a case of a 14-year-old boy with Bart syndrome. The syndrome was diagnosed clinically. On examination, multiple generalized blisters were present and absence of nails in the toes of both feet and the middle finger of the left hand, which was associated with musculoskeletal deformity.

Discussion: Bart syndrome, an inherited autosomal dominant disorder, is an exceedingly rare disorder. Musculoskeletal deformity is an uncommon presentation of this syndrome. It is mostly associated with Dystrophic type of EB. It is mostly a clinical diagnosis; however, histopathological study, direct immunofluorescence, and genetic testing helps in diagnosing the type of EB.

Conclusion: The absence of skin in a localized area at birth is a crucial indicator for diagnosing Bart syndrome at birth, which later heals and can obscure the diagnosis. Early diagnosis and conservative management prevent the disease progression and complications.