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 i.e., congenital local absence of skin, and nail abnormalities. Case Presentation: We 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 toes of both feet and middle finger of 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.