Case of the Month 27 September 2017

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Presentation transcript:

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

Case of the Month 27

Case of the Month 27 What is your diagnosis ?

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

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

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

Case of the Month 27 What is your diagnosis ?

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

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

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

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

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):679-84. Menko FH, Van steensel MA, Giraud S, et al. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol. 2009;10(12):1199-206. 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):349-52.