Chest
Volume 132, Issue 2, August 2007, Pages 679-684
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Selected Reports
Cystic Lung Disease in Birt-Hogg-Dubé Syndrome

https://doi.org/10.1378/chest.07-0042Get rights and content

Background

To describe the clinical, radiologic, and histopathologic aspects of cystic lung disease occurring in patients with Birt-Hogg-Dubé (BHD) syndrome, a rare, inheritable, multisystem disorder.

Methods

We retrospectively reviewed five patients with BHD syndrome evaluated at the Mayo Clinic Rochester from 1998 through 2005.

Results

Mean age (± SD) at the time of pulmonary evaluation was 56.4 ± 4.8 years; four patients were men. Three patients had not received a diagnosis of BHD syndrome at the time of initial CT of the chest. Three patients had a smoking history, and two were nonsmokers. Two patients had a history of recurrent pneumothoraces. Pulmonary function tests available in four patients revealed normal results in one patient and mild airflow obstruction or nonspecific pattern of abnormalities in three patients. CT of the chest revealed cystic lung disease in all five patients; cysts were round to oval in shape, ranged widely in size, and were randomly distributed throughout the lungs, except for a predilection to involve the lung bases more extensively. Three patients with a smoking history had more severe cystic changes compared to nonsmokers and included both patients with recurrent pneumothoraces. Surgical lung biopsy available in one patient revealed emphysema-like changes. Follow-up CT scans available in four patients revealed relative stability over a median interval of 20 months (range, 3 to 66 months).

Conclusion

We conclude that cystic lung disease in BHD syndrome varies widely in severity, mimics pulmonary lymphangioleiomyomatosis, and may be worsened by smoking.

Section snippets

Study Population

A computer-aided search was conducted to identify all patients seen at the Mayo Clinic in Rochester, MN, during an 8-year period from January 1, 1998, to December 31, 2005, with a diagnosis of BHD syndrome or fibrofolliculoma. We identified seven patients with BHD syndrome, five of whom had CT of chest available for review and were included in this study. In all five patients, the diagnosis was confirmed clinically. Three patients chose to have genetic testing, and each patient was heterozygous

Patient Characteristics

None of the patients had a diagnosis of BHD syndrome at the time of the initial evaluation at our institution for skin lesions (three patients), renal mass (one patient), and recurrent pneumothorax (one patient). Mean age (± SD) at the time of pulmonary evaluation was 56.4 ± 4.8 years; four of five patients were men (Table 1). Three patients did not have BHD syndrome diagnosed at the time of the initial CT scan of the chest. Further examination after initial presentation revealed characteristic

Discussion

In this study, cystic lung disease was seen by CT in all five middle-aged patients with BHD syndrome; two of these patients had recurrent pneumothoraces. All five patients had skin lesions characteristic of BHD syndrome; two patients had previously undergone resection of renal tumors (clear cell and chromophobe renal cancers, respectively) associated with BHD syndrome. Pulmonary function was only mildly impaired and may have been affected by smoking and pleural complications as well as the

References (23)

  • JR Toro et al.

    Birt-Hogg-Dube syndrome: a novel marker of kidney neoplasia

    Arch Dermatol

    (1999)
  • Cited by (0)

    The authors have no conflicts of interest to disclose.

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