Bart syndrome with musculoskeletal deformity: a rare case report.

Autor:	Pokhrel S; Nepal Medical College and Teaching Hospital, Kathmandu, Nepal., Niraula Z; Nepal Medical College and Teaching Hospital, Kathmandu, Nepal., Ghimire P; Nepal Medical College and Teaching Hospital, Kathmandu, Nepal., Ale Magar S; Nepal Medical College and Teaching Hospital, Kathmandu, Nepal., Acharya A; Nepal Medical College and Teaching Hospital, Kathmandu, Nepal., Awal K; Nepal Medical College and Teaching Hospital, Kathmandu, Nepal.
Jazyk:	angličtina
Zdroj:	Annals of medicine and surgery (2012) [Ann Med Surg (Lond)] 2024 Nov 13; Vol. 86 (12), pp. 7465-7468. Date of Electronic Publication: 2024 Nov 13 (Print Publication: 2024).
DOI:	10.1097/MS9.0000000000002732
Abstrakt:	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. Competing Interests: The authors declare no conflicts of interest.Sponsorships or competing interests that may be relevant to content are disclosed at the end of this article. (Copyright © 2024 The Author(s). Published by Wolters Kluwer Health, Inc.)
Databáze:	MEDLINE
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