An elderly woman with Birt-Hogg-Dubé syndrome having multiple pulmonary cysts mimicking lymphangioleiomyomatosis

Yasuhito Sekimoto; Isao Yamawaki; Chikako Iwabuchi; Koichi Nishino; Kazuhisa Takahashi; Kuniaki Seyama

doi:10.1016/j.resinv.2024.03.005

An elderly woman with Birt-Hogg-Dubé syndrome having multiple pulmonary cysts mimicking lymphangioleiomyomatosis

Respir Investig. 2024 May;62(3):462-464. doi: 10.1016/j.resinv.2024.03.005. Epub 2024 Mar 28.

Authors

Yasuhito Sekimoto¹, Isao Yamawaki², Chikako Iwabuchi³, Koichi Nishino⁴, Kazuhisa Takahashi⁵, Kuniaki Seyama⁴

Affiliations

¹ Division of Respiratory Medicine, Juntendo University Faculty of Medicine and Graduate School of Medicine, 3-1-3 Hongo, Bunkyo-ku, Tokyo, 113-8431, Japan; The Study Group for Pneumothorax and Cystic Lung Diseases, 4-8-1 Seta, Setagaya-ku, Tokyo, 158-0095, Japan. Electronic address: y-sekimo@juntendo.ac.jp.
² Division of pulmonology and allergy, Hattori Clinic, 3-4-7 Motoasakusa, Taito-ku, Tokyo, 111-0041, Japan.
³ Department of Dermatology, Nissan Tamagawa Hospital, 4-8-1 Seta, Setagaya-ku, Tokyo, 158-0095, Japan.
⁴ Division of Respiratory Medicine, Juntendo University Faculty of Medicine and Graduate School of Medicine, 3-1-3 Hongo, Bunkyo-ku, Tokyo, 113-8431, Japan; The Study Group for Pneumothorax and Cystic Lung Diseases, 4-8-1 Seta, Setagaya-ku, Tokyo, 158-0095, Japan.
⁵ Division of Respiratory Medicine, Juntendo University Faculty of Medicine and Graduate School of Medicine, 3-1-3 Hongo, Bunkyo-ku, Tokyo, 113-8431, Japan.

PMID: 38552456
DOI: 10.1016/j.resinv.2024.03.005

Abstract

The characteristics of the pulmonary cysts on the high-resolution computed tomography (HRCT) chest images are an important diagnostic clue to distinguish among cystic lung diseases. The diagnostic accuracy of HRCT was reported to be as high as 90% by experienced pulmonologists and radiologists. Herein, we report the case of an elderly woman with Birt-Hogg-Dubé syndrome (BHDS) whose HRCT images displayed lymphangioleiomyomatosis-like features of the pulmonary cysts, rendering it difficult for us to diagnose BHDS. This case illustrates the significance of a thorough anamnesis, physical examination, and skin biopsy of facial papules to establish an accurate diganosis.

Keywords: Birt–Hogg–Dubé syndrome; Cystic lung diseases; High-resolution computed tomography; Lymphangioleiomyomatosis.

Publication types

Case Reports

MeSH terms

Aged
Birt-Hogg-Dube Syndrome* / diagnosis
Birt-Hogg-Dube Syndrome* / pathology
Cysts* / diagnostic imaging
Cysts* / pathology
Female
Humans
Lung Diseases* / diagnostic imaging
Lymphangioleiomyomatosis* / diagnosis
Pneumothorax*
Tomography, X-Ray Computed / methods