283 © Springer Nature Switzerland AG 2021
N. Gupta et al. (eds.), Diffuse Cystic Lung Diseases, Respiratory Medicine,
https://doi.org/10.1007/978-3-030-63365-3_15
Chapter 15
Extrapulmonary Manifestations
of Diffuse Cystic Lung Diseases
Daniel F. Dilling and Stephen J. Ruoss
Introduction
Previous chapters in this textbook have focused on the respiratory symptoms and
pulmonary features of diffuse cystic lung diseases (DCLDs). While the practicing
pulmonologist is likely to feel most comfortable with the pulmonary aspects of
DCLDs, these diseases often have significant extrapulmonary involvement that war-
rants attention and management. Such extrapulmonary aspects of the disease may
even overshadow the lung disease with regard to the symptom burden or the need
for ongoing testing. In this chapter, we discuss the extrapulmonary aspects in the
context of the major DCLDs: Birt-Hogg-Dubé (BHD) syndrome, light chain depo-
sition disease (LCDD), lymphocytic interstitial pneumonia/follicular bronchiolitis
(LIP/FB), lymphangioleiomyomatosis (LAM), and pulmonary Langerhans cell his-
tiocytosis (PLCH).
Lymphangioleiomyomatosis (LAM)
LAM has been characterized as a low-grade, destructive, metastasizing neoplasm
[1] and can occur in patients with tuberous sclerosis complex (TSC-LAM) or in
sporadic cases in the absence of TSC (S-LAM). A number of extrapulmonary mani-
festations have been described in patients with LAM with varying frequencies
D. F. Dilling (*)
Division of Pulmonary and Critical Care, Stritch School of Medicine, Loyola University
Chicago, Chicago, IL, USA
e-mail: ddillin@lumc.edu
S. J. Ruoss
Division of Pulmonary and Critical Care, Stanford University, Stanford, CA, USA
e-mail: ruoss@stanford.edu