Bhutani Namita, Nadesan Akhil
Deptt. of Pathology, North DMC Medical College, Hindu Rao Hospital, Delhi, India.
GB Pant Institute of Post Graduate Medical Education and Research (GIPMER), New Delhi, India.
Ann Med Surg (Lond). 2022 Apr 3;77:103571. doi: 10.1016/j.amsu.2022.103571. eCollection 2022 May.
•PXE is an extremely rare autosomal recessive disease.•It involves major systems in the body like the cutaneous, ocular, cardiovascular, and gastrointestinal.•The characteristic histopathological features are calcification and fragmentation of the elastic fibres.•Currently, specific or effective treatment is not available.
•假性黄色瘤弹性纤维增生症是一种极其罕见的常染色体隐性疾病。
•它累及身体的主要系统,如皮肤、眼睛、心血管和胃肠道。
•特征性组织病理学特征是弹性纤维的钙化和断裂。
•目前尚无特效或有效的治疗方法。