Differentiation between Birt–Hogg–Dubé syndrome and lymphangioleiomyomatosis: Quantitative analysis of pulmonary cysts on computed tomography of the chest in 66 females

Tobino, Kazunori; Hirai, Toyohiro; Johkoh, Takeshi; Kurihara, Masatoshi; Fujimoto, Kiminori; Tomiyama, Noriyuki; Mishima, Michiaki; Takahashi, Kazuhisa; Seyama, Kuniaki

doi:10.1016/j.ejrad.2011.03.039

Cited by 82 publications

(82 citation statements)

References 28 publications

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“…The primary differentiating radiological feature of cysts in BHD is the predominantly basilar location, which contrasts with the largely apical location of dilated airspaces and blebs in emphysema and primary spontaneous pneumothorax (13). Characteristic HRCT findings include round to lentiform-shaped, thin-walled pulmonary cysts of various sizes, distributed in the basilar and subpleural regions of the lung ( Figure 1A) (14,15). In the few available pathological descriptions of BHD cysts, the histological features have generally been found to be indistinguishable from those of emphysema.…”

Section: Cystic Lung Diseases Associated With Genetic Mutationsmentioning

confidence: 99%

Diffuse Cystic Lung Disease. Part II

Gupta

Vassallo

Wikenheiser-Brokamp

et al. 2015

Am J Respir Crit Care Med

128

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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.

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Section: Cystic Lung Diseases Associated With Genetic Mutationsmentioning

confidence: 99%

Diffuse Cystic Lung Disease. Part II

Gupta

Vassallo

Wikenheiser-Brokamp

et al. 2015

Am J Respir Crit Care Med

128

View full text Add to dashboard Cite

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“…The HRCT pattern in BHD consists of multiple, round to lentiform-shaped cysts that present in a basilar and subpleural distribution with normal intervening lung parenchyma (14,15). In an analysis of 89 patients with diffuse cystic lung diseases, expert radiologists were able to accurately diagnose BHD in 93% of cases on the basis of imaging features alone (9).…”

Section: Original Researchmentioning

confidence: 99%

Chest Computed Tomographic Image Screening for Cystic Lung Diseases in Patients with Spontaneous Pneumothorax Is Cost Effective

et al. 2017

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Rationale: Patients without a known history of lung disease presenting with a spontaneous pneumothorax are generally diagnosed as having primary spontaneous pneumothorax. However, occult diffuse cystic lung diseases such as Birt-Hogg-Dubé syndrome (BHD), lymphangioleiomyomatosis (LAM), and pulmonary Langerhans cell histiocytosis (PLCH) can also first present with a spontaneous pneumothorax, and their early identification by high-resolution computed tomographic (HRCT) chest imaging has implications for subsequent management.Objectives: The objective of our study was to evaluate the costeffectiveness of HRCT chest imaging to facilitate early diagnosis of LAM, BHD, and PLCH.Methods: We constructed a Markov state-transition model to assess the cost-effectiveness of screening HRCT to facilitate early diagnosis of diffuse cystic lung diseases in patients presenting with an apparent primary spontaneous pneumothorax. Baseline data for prevalence of BHD, LAM, and PLCH and rates of recurrent pneumothoraces in each of these diseases were derived from the literature. Costs were extracted from 2014 Medicare data. We compared a strategy of HRCT screening followed by pleurodesis in patients with LAM, BHD, or PLCH versus conventional management with no HRCT screening. Measurements and Main Results:In our base case analysis, screening for the presence of BHD, LAM, or PLCH in patients presenting with a spontaneous pneumothorax was cost effective, with a marginal cost-effectiveness ratio of $1,427 per quality-adjusted lifeyear gained. Sensitivity analysis showed that screening HRCT remained cost effective for diffuse cystic lung diseases prevalence as low as 0.01%. Conclusions:HRCT image screening for BHD, LAM, and PLCH in patients with apparent primary spontaneous pneumothorax is cost effective. Clinicians should consider performing a screening HRCT in patients presenting with apparent primary spontaneous pneumothorax.

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“…Multiple, the presence of irregularly shaped cysts of various sizes with lower medial lung zone predominance is a characteristic CT finding of BHDS. On the other hand, LAM presents with a more circular shape, smaller size and equal distribution of cysts in all lung fields (9). In the present case, both the patient's sister and niece had a history of pneumothorax, and the typical cystic findings of BHDS were observed on their chest CT images.…”

Section: Discussionmentioning

confidence: 59%

Pneumothorax Developing for the First Time in a 73-year-old Woman Diagnosed with Birt-Hogg-Dubé Syndrome

et al. 2013

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Spontaneous pneumothorax in the elderly commonly occurs due to underlying pulmonary diseases, such as chronic obstructive pulmonary disease, interstitial lung disease, lung cancer, etc. A 73-year-old woman developed pneumothorax for the first time that was a clinical clue to a diagnosis of Birt-Hogg-Dubé syndrome (BHDS), an autosomal dominant condition characterized by fibrofolliculomas of the skin, renal tumors and multiple lung cysts predisposing to pneumothorax. Although BHDS patients frequently develop pneumothorax during their twenties to forties, the present case indicates that BHDS should be considered as an underlying cause of pneumothorax in the elderly with undisclosed BHDS.

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Differentiation between Birt–Hogg–Dubé syndrome and lymphangioleiomyomatosis: Quantitative analysis of pulmonary cysts on computed tomography of the chest in 66 females

Cited by 82 publications

References 28 publications

Diffuse Cystic Lung Disease. Part II

Diffuse Cystic Lung Disease. Part II

Chest Computed Tomographic Image Screening for Cystic Lung Diseases in Patients with Spontaneous Pneumothorax Is Cost Effective

Pneumothorax Developing for the First Time in a 73-year-old Woman Diagnosed with Birt-Hogg-Dubé Syndrome

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