A RARE CAUSE OF LIP SWELLING

Marta Caldas, M. Pedro, H. Loreto, Catarina Gomes
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Abstract

A 14-year-old, previously healthy, boy presented with a one-month history of persistent swelling of the lower lip. There were no associated symptoms or identifiable inciting events. Physical examination showed soft and painless swelling of the lower lip, particularly on the left side (Figure 1). Two months later, he presented to consultation with permanent lip swelling, weight loss, abdominal pain and vomiting. Initial bloodwork revealed increased inflammatory markers and calprotectin. Gastro-intestinal endoscopies displayed superficial erosions of the colon and esophagus. Mucosal biopsies showed noncaseating transmural granulomas and lip biopsies revealed giant cell granulomas without necrosis. The diagnosis of orofacial granulomatosis associated with Crohn’s disease was confirmed. The patient was treated with azathioprine and mesalamine, with good response. Orofacial granulomatosis is a rare disorder characterized by facial or lip swelling and can be related to systemic disease [1]. Crohn’s disease presenting as orofacial granulomatosis is very rare in the pediatric population and it can precede the intestinal symptoms of Crohn Disease by months or years [2,3]. Therefore, it is important to have a low threshold of suspicion and carry out persistent clinical surveillance for the development of additional signs and symptoms [2].
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引起唇肿的罕见原因
一名14岁的男孩,先前健康,表现出一个月的持续下唇肿胀史。没有相关症状或可识别的煽动性事件。体格检查显示下唇软性无痛性肿胀,尤以左侧为明显(图1)。2个月后就诊,伴有永久性嘴唇肿胀、体重减轻、腹痛和呕吐。最初的血液检查显示炎症标志物和钙保护蛋白升高。胃肠内窥镜检查显示结肠和食道有浅表糜烂。粘膜活检显示非干酪化的跨壁肉芽肿,嘴唇活检显示巨细胞肉芽肿,无坏死。确诊为口面部肉芽肿病合并克罗恩病。患者给予硫唑嘌呤联合美沙拉胺治疗,疗效良好。口面部肉芽肿病是一种罕见的以面部或嘴唇肿胀为特征的疾病,可能与全身性疾病有关[1]。克罗恩病表现为口腔面部肉芽肿病在儿科人群中非常罕见,可先于克罗恩病的肠道症状数月或数年[2,3]。因此,重要的是要有一个低的怀疑阈值,并对其他体征和症状的发展进行持续的临床监测[2]。
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