Gohar Ali Mariyam, Zubairi Ali Bin Sarwar, Qamar Farah Naz
Pulmonary Medicine, Aga Khan University Hospital, Karachi, Pakistan.
Paediatric Infectious Disease, Aga Khan University Hospital, Karachi, Pakistan.
BMJ Case Rep. 2018 Nov 8;2018:bcr-2018-226074. doi: 10.1136/bcr-2018-226074.
Hyperimmunoglobulin E syndrome is a rare multisystem inherited disorder characterised by high serum IgE levels, skin disorder causing eczema, dermatitis, recurrent staphylococcal infections and pulmonary infections and various skeletal and connective tissue abnormalities. Common presentation is with recurrent skin and sinopulmonary infections. Several features unrelated to immune system such as characteristic facial features, hyperextensibility of joints, multiple bone fractures and craniosynostosis have been described in the literature. We describe a rare presentation of this disease with invasive aspergillosis presenting as mediastinal mass with extension to mediastinal structures and pulmonary vasculature.
高免疫球蛋白E综合征是一种罕见的多系统遗传性疾病，其特征为血清IgE水平升高、导致湿疹和皮炎的皮肤疾病、复发性葡萄球菌感染和肺部感染以及各种骨骼和结缔组织异常。常见表现为复发性皮肤和鼻窦肺部感染。文献中还描述了一些与免疫系统无关的特征，如特征性面部特征、关节过度伸展、多发性骨折和颅骨缝早闭。我们描述了该疾病的一种罕见表现，即侵袭性曲霉病表现为纵隔肿块并延伸至纵隔结构和肺血管系统。
