Alfayez Yasmin, Alsharif Sahar, Santli Adel
Dermatology Department, King Fahad Armed Force Hospital, Jeddah, Saudi Arabia.
Case Rep Dermatol. 2017 Aug 3;9(2):112-118. doi: 10.1159/000478889. eCollection 2017 May-Aug.
Aplasia cutis congenita type VI, also known as Bart syndrome, is a rare genetic mechanobullous disorder characterized by congenital localized absence of skin, mucocutaneous blistering lesions, and nail abnormalities. We present the case of a 4-h-old male newborn who presented with complete absence of skin over the anteromedial aspect of both lower legs associated with nail dystrophy since birth. After a few days, he developed blisters that were consistent with epidermolysis bullosa in histopathological examination. There was no systemic involvement such as pyloric atresia, ureteral stenosis, renal abnormalities, or arthrogryposis. All laboratory work and imaging studies were normal. A diagnosis of Bart syndrome was made based on previous presentation. We managed the patient with conservative methods. Complete epithelialization occurred after several weeks.
VI型先天性皮肤发育不全，也称为巴特综合征，是一种罕见的遗传性机械性大疱性疾病，其特征为先天性局限性皮肤缺失、黏膜皮肤水疱性病变和指甲异常。我们报告一例4小时大的男性新生儿病例，自出生以来，其双小腿前内侧完全没有皮肤，并伴有指甲营养不良。几天后，他出现了水疱，组织病理学检查结果与大疱性表皮松解症一致。没有出现诸如幽门闭锁、输尿管狭窄、肾脏异常或关节挛缩等全身受累情况。所有实验室检查和影像学检查均正常。根据既往表现做出了巴特综合征的诊断。我们采用保守方法对该患者进行治疗。几周后实现了完全上皮化。
