Diabetes and Endocrinology, East Kent Hospitals University NHS Foundation Trust, Ashford, UK
Department of Intensive Care Medicine, William Harvey hospital, Ashford, Kent, UK
BMJ Case Rep. 2023 Mar 30;16(3):e252362. doi: 10.1136/bcr-2022-252362.
A case of phaeochromocytoma in a female patient in her 50s with phenotypical expressions for the rare Birt-Hogg-Dubé (BHD) syndrome is presented. Whether this is an incidental finding or that there is a composite relationship between these two entities remains to be fully described. Less than 10 cases reporting likely association of BHD syndrome with adrenal tumours have been reported in the literature to date.
本文报告了一例 50 多岁女性患者的嗜铬细胞瘤病例,该患者具有罕见的 Birt-Hogg-Dubé(BHD)综合征的表型表达。目前尚不清楚这是偶然发现还是这两种疾病之间存在复合关系。迄今为止,文献中仅报道了不到 10 例可能与 BHD 综合征相关的肾上腺肿瘤病例。