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. 2021 Mar 30;11:7170. doi: 10.1038/s41598-021-85999-5

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© The Author(s) 2021

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

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Representative HRCT images with multiple thin-walled cysts, mostly large (> 2 cm). A 44-year-old female with S-LAM. She had a history of right pneumothorax at the age of 42. Birt-Hogg-Dubé (BHD) syndrome was initially suspected from the HRCT appearance of multiple large cysts (A), but the FLCN genetic test was negative. Right pneumothorax recurrence at age 44 was treated with VATS. Thoracoscopy revealed several large transparent bullae with small blood vessels on the surface that are suggestive of BHD syndrome (B: thick arrow) along with tiny transparent bullae that are typical of LAM (B: thin arrow). Histopathological examination of the excised lung specimen revealed cysts whose walls included small scattered LAM nodules as well as bronchioles constricted by proliferating LAM cells (C: [arrows]; hematoxylin–eosin [HE] stain, original magnification × 25). LAM cells with short spindles or small epithelioid shapes, and pale to clear cytoplasm were roughly arrogated around bronchioles (D: a magnified view of area indicated by the thick arrow in C; HE stain, original magnification × 200). Immunohistochemical examination confirmed that LAM cells were positive for melanoma-related antigen gp100 (detected by the HMB45 monoclonal antibody), α-smooth muscle actin (α-SMA), and estrogen and progesterone receptors (data not shown).