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Strange Coincidences: A Case of Concurrent Sarcoidosis and Birt-Hogg-Dubé
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A1572 - Strange Coincidences: A Case of Concurrent Sarcoidosis and Birt-Hogg-Dubé
Author Block: J. M. Huang1, R. Amer2; 1Department of Medicine, Division of Respirology, McMaster University, Hamilton, ON, Canada, 2Medicine and Respirology, McMaster University, Hamilton, ON, Canada.
Background: Sarcoidosis is a systemic disease of unknown etiology, characterized by non-necrotizing granulomas that commonly affect the chest. Incidence varies greatly with geography, but is estimated at 10.9/100 000 per year in the US. Birt-Hogg-Dubé is a rare genetic syndrome that presents with skin lesions, cystic lung disease, and increased risk of renal cell carcinoma. Although the exact prevalence is unknown, it affects approximately 200 families world-wide. Presentation: We present a case of incidental sarcoidosis diagnosed in a 46 year old man with renal cell carcinoma, skin lesions and a history of pneumothorax. Chest imaging during the workup for renal cell cancer revealed pulmonary cysts and nodules, and mediastinal lymphadenopathy; biopsies revealed non-necrotizing granulomas. Skin biopsies showed fibrofolliculomas, and he was subsequently diagnosed with concurrent sarcoidosis and Birt-Hogg-Dubé (BHD). Discussion: Given the prevalence of both diseases, co-existing sarcoidosis and BHD would be extremely rare if occurring only by chance. However, recent publications indicate this phenomenon is more common than expected, possibly suggesting a shared mechanism that allows both these diseases to develop. We postulate that a shared mechanism through the dysregulation of the mammalian target of rapamycin (mTOR) may explain the development of both sarcoidosis and BHD. While it has been established that the pathogenesis of BHD is related to alterations in mTOR regulation, very recent evidence suggests that chronic activation of mTOR may also be implicated in the development of sarcoidosis. This case reports reviews the clinical features of sarcoidosis and BHD, discusses the mechanism of mTOR dysfunction in BHD, and reviews the recent evidence between mTOR regulation and sarcoidosis.
Author Block: J. M. Huang1, R. Amer2; 1Department of Medicine, Division of Respirology, McMaster University, Hamilton, ON, Canada, 2Medicine and Respirology, McMaster University, Hamilton, ON, Canada.
Background: Sarcoidosis is a systemic disease of unknown etiology, characterized by non-necrotizing granulomas that commonly affect the chest. Incidence varies greatly with geography, but is estimated at 10.9/100 000 per year in the US. Birt-Hogg-Dubé is a rare genetic syndrome that presents with skin lesions, cystic lung disease, and increased risk of renal cell carcinoma. Although the exact prevalence is unknown, it affects approximately 200 families world-wide. Presentation: We present a case of incidental sarcoidosis diagnosed in a 46 year old man with renal cell carcinoma, skin lesions and a history of pneumothorax. Chest imaging during the workup for renal cell cancer revealed pulmonary cysts and nodules, and mediastinal lymphadenopathy; biopsies revealed non-necrotizing granulomas. Skin biopsies showed fibrofolliculomas, and he was subsequently diagnosed with concurrent sarcoidosis and Birt-Hogg-Dubé (BHD). Discussion: Given the prevalence of both diseases, co-existing sarcoidosis and BHD would be extremely rare if occurring only by chance. However, recent publications indicate this phenomenon is more common than expected, possibly suggesting a shared mechanism that allows both these diseases to develop. We postulate that a shared mechanism through the dysregulation of the mammalian target of rapamycin (mTOR) may explain the development of both sarcoidosis and BHD. While it has been established that the pathogenesis of BHD is related to alterations in mTOR regulation, very recent evidence suggests that chronic activation of mTOR may also be implicated in the development of sarcoidosis. This case reports reviews the clinical features of sarcoidosis and BHD, discusses the mechanism of mTOR dysfunction in BHD, and reviews the recent evidence between mTOR regulation and sarcoidosis.
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