Diffuse Cystic Lung Disease. Part II

Am J Respir Crit Care Med. 2015 Jul 1;192(1):17-29. doi: 10.1164/rccm.201411-2096CI.


The diffuse cystic lung diseases have a broad differential diagnosis. A wide variety of pathophysiological processes spanning the spectrum from airway obstruction to lung remodeling can lead to multifocal cyst development in the lung. Although lymphangioleiomyomatosis and pulmonary Langerhans cell histiocytosis are perhaps more frequently seen in the clinic, disorders such as Birt-Hogg-Dubé syndrome, lymphocytic interstitial pneumonia, follicular bronchiolitis, and light-chain deposition disease are increasingly being recognized. Obtaining an accurate diagnosis can be challenging, and management approaches are highly disease dependent. Unique imaging features, genetic tests, serum studies, and clinical features provide invaluable clues that help clinicians distinguish among the various etiologies, but biopsy is often required for definitive diagnosis. In part II of this review, we present an overview of the diffuse cystic lung diseases caused by lymphoproliferative disorders, genetic mutations, or aberrant lung development and provide an approach to aid in their diagnosis and management.

Keywords: Birt-Hogg-Dubé syndrome; Sjögren syndrome; follicular bronchiolitis; high-resolution computed tomography; lymphoid interstitial pneumonia.

Publication types

  • Review

MeSH terms

  • Amyloidosis / diagnosis
  • Amyloidosis / etiology
  • Birt-Hogg-Dube Syndrome / diagnosis
  • Birt-Hogg-Dube Syndrome / genetics
  • Bronchopulmonary Dysplasia / diagnosis
  • Cystic Adenomatoid Malformation of Lung, Congenital / diagnosis
  • Diagnosis, Differential
  • Genetic Testing
  • Humans
  • Lung Diseases / diagnosis*
  • Lung Diseases / etiology
  • Lung Diseases / physiopathology
  • Lung Diseases, Interstitial / diagnosis
  • Lung Diseases, Interstitial / etiology
  • Risk Factors
  • Sjogren's Syndrome / diagnosis
  • Sjogren's Syndrome / etiology
  • Tomography, X-Ray Computed

Supplementary concepts

  • Cystic Disease Of Lung