成人发作性黄色肉芽肿(AOX)是四种罕见综合征之一,统称为成人黄色肉芽肿病(AXD)。它主要发生在眼眶和眼附件,并表现出独特的组织病理学特征,以非朗格汉斯衍生的泡沫样组织细胞和Touton巨细胞的浸润为特征。眼睑上弥漫性黄色斑块的存在作为高度指示性特征。在这份报告中,我们提出了一个令人信服的双侧眶周AOX病例。最初,该患者接受了坏死性黄色肉芽肿(NBX)的诊断,并接受了氨苯砜治疗,这产生了一个糟糕的反应。随后,通过反复的活检,免疫蛋白电泳,和高通量测序,将诊断改为AOX.随后,患者的治疗方法被修改为包括口服激素治疗,并且没有观察到眶周斑块的进一步进展。值得注意的是,患者的姐姐被诊断为耳膜黄膜(XP),表明AOX和XP之间存在潜在的遗传关联。不幸的是,姐姐拒绝对她的皮肤病变进行进一步的组织学检查和基因测序,阻碍获得有关这两种疾病之间遗传联系的其他证据。尽管有不同的病理特征,发病机制,以及AOX和掌黄体瘤的临床表现,临床医生应认识到这两种情况之间的似是而非的遗传相关性,并在可行的情况下进行进一步的调查.
Adult-onset xanthogranuloma (AOX) is one of the four rare syndromes collectively referred to as adult xanthogranulomatous disease (AXD). It primarily occurs in the orbit and ocular adnexa and displays distinctive histopathological features, characterized by the infiltration of non-Langerhans-derived foam-like histiocytes and Touton giant cells. The presence of diffuse yellow plaques on the eyelids serves as a highly indicative feature. In this report, we present a compelling
case of bilateral periorbital AOX. Initially, the patient received a diagnosis of necrotizing xanthogranuloma (NBX) and underwent treatment with dapsone, which yielded a poor response. Subsequently, through repeated biopsy, immunoprotein electrophoresis, and high-throughput sequencing, the diagnosis was revised to AOX. Subsequently, the patient\'s treatment was modified to include oral hormone therapy, and no further progression of the periorbital plaque was observed. Notably, the patient\'s sister was diagnosed with xanthelasma palpebrarum (XP), suggesting a potential genetic association between AOX and XP. Unfortunately, the sister declined further histologic examination and genetic sequencing of her skin lesions, impeding the acquisition of additional evidence regarding the genetic link between these two disorders. Despite the divergent pathological features, pathogenesis, and clinical presentation of AOX and xanthelasma palbrarum, clinicians should remain cognizant of the plausible genetic correlation between these two conditions and pursue further investigations when feasible.