1. Case of the Month 27 September 2017
History:
69-year-old male.

2. Case of the Month 27

3. Case of the Month 27
What is your diagnosis ?

5. Case of the Month 27 September 2017
History:
69-year-old male.
Question:
How would you describe the findings?

6. Case of the Month 27 Rounded and oval cysts: Lower lobe predominance
Predominantly subpleural
Larger size for those being subpleural

7. Case of the Month 27 Rounded and oval cysts: Lower lobe predominance
Predominantly subpleural
Larger size for those being
subpleural
History of right nephrectomy

8. Case of the Month 27
What is your diagnosis ?

9. Birt-Hogg-Dubé syndrome
Case of the Month 27
Birt-Hogg-Dubé syndrome
Authors: N Jerjir, G Chassagnon, MP Revel
Paris France

10. Discussion Case of the Month 27
Birt-Hogg-Dubé (BHD) syndrome is characterized by: - Lung cysts - Renal lesions, typically renal cell carcinoma of chromophobe and mixed chromophobe-oncocytic type - Cutaneous fibrofolliculomas
It is a rare disorder with an autosomal dominant inheritance pattern (mutation in folliculin encoding gene)
Family history of pneumothoraces should raise suspicion, as well as the presence of lung cysts in a patient with renal tumor
Pulmonary function tests are typically normal, disease severity mainly depends on renal involvement

11. Discussion Case of the Month 27
Birt-Hogg-Dubé should be differentiated from other cystic pulmonary diseases
Lymphangioleiomyomatosis (LAM): - Women of childbearing age - Rounded cysts homogeneously distributed - Chylothorax and renal angiomyolipomas may be observed - Can be associated with Tuberous Sclerosis
Langerhans cell histiocytosis (LCH): - Smoking-related disease - Cysts are irregular/bizarrely shaped - Upper lobe predominance - Often associated with small nodules (early disease)
LAM
LCH

12. Discussion Case of the Month 27 (continued)
Lymphoid interstitial pneumonia (LIP) - Autoimmune disease (e.g. Sjögren) or immunodeficiency (e.g. HIV) - Fewer cysts than LCH or LAM, often perivascular - With mosaic perfusion in Sjögren’s disease
Other: - Pneumocystitis jirovecii pneumonia (PCP): immunocompromised patient with (sub)acute symptoms and CT showing ground glass and cysts
- Rare diseases (e.g. light-chain deposition disease)
LIP (Sjögren)
PCP

13. Further Reading Case of the Month 27 Birt-Hogg-Dubé
Ayo DS, Aughenbaugh GL, Yi ES, Hand JL, Ryu JH. Cystic lung disease in Birt-Hogg-Dube syndrome. Chest. 2007;132(2):
Menko FH, Van steensel MA, Giraud S, et al. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol. 2009;10(12):
Tobino K, Gunji Y, Kurihara M, et al. Characteristics of pulmonary cysts in Birt-Hogg-Dubé syndrome: thin-section CT findings of the chest in 12 patients. Eur J Radiol. 2011;77(3):403-9.
Agarwal PP, Gross BH, Holloway BJ, Seely J, Stark P, Kazerooni EA. Thoracic CT findings in Birt-Hogg-Dube syndrome. AJR Am J Roentgenol. 2011;196(2):