Pokhrel Sanish, Niraula Zenish, Ghimire Pradip, Ale Magar Sugam, Acharya Ashish, Awal Kiran
Nepal Medical College and Teaching Hospital, Kathmandu, Nepal.
Ann Med Surg (Lond). 2024 Nov 13;86(12):7465-7468. doi: 10.1097/MS9.0000000000002732. eCollection 2024 Dec.
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.
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.
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.
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.
巴特综合征是一种罕见的遗传性疾病，其特征为大疱性表皮松解症（EB）、先天性皮肤发育不全，即先天性局部皮肤缺失和指甲异常。
本文作者报告一例14岁患有巴特综合征的男孩。该综合征通过临床诊断。检查发现，全身多处出现水疱，双脚脚趾和左手食指指甲缺失，并伴有肌肉骨骼畸形。
巴特综合征是一种常染色体显性遗传性疾病，极为罕见。肌肉骨骼畸形是该综合征不常见的表现形式。它大多与营养不良型EB相关。其诊断主要依靠临床；然而，组织病理学研究、直接免疫荧光检查和基因检测有助于诊断EB的类型。
出生时局部皮肤缺失是出生时诊断巴特综合征的关键指标，该部位随后会愈合，可能会掩盖诊断。早期诊断和保守治疗可预防疾病进展和并发症。
