淋巴管平滑肌瘤病（Lymphangioleiomyomatosis，LAM）是一种极为罕见、缓慢进展的肿瘤性囊性疾病，属于PEComa组。它可以孤立发生，也可以与结节性硬化症复杂疾病相关，并主要影响到生育年龄的妇女。呼吸困难是最常见的诊断时症状，然而自发性气胸可能是常见的表现之一，伴有肾血管平滑肌脂肪瘤等胸外表现。在过去十年中，对LAM发病机制的分子机制有了重要进展。这使得在新生物标志物的研究、治疗和疾病管理方面取得了改进。 版权所有 © 2023. Elsevier Masson SAS出版。

Lymphangioleiomyomatosis (LAM) is an ultra-rare, slowly progressive neoplastic cystic disease, belonging to the group of PEComas. It can occur sporadically or associated to tuberous sclerosis complex disease and affects mainly women in child-birth age. Dyspnoea is the most frequent symptom referred to the time of diagnosis, however spontaneous pneumothorax may be a typical presentation associated to extrathoracic manifestations, such as renal angiomyolipomas. In the last decade, important advances in understanding molecular mechanisms underlying the LAM pathogenesis have been reached. It has allowed to obtain improvements in the research of novel biomarkers, treatment and a better management of the disease.Copyright © 2023. Published by Elsevier Masson SAS.