Birt-Hogg-Dubé Syndrome: A Case Report Describing Sonographic Evaluation of Salivary Gland Oncocytomas

Birt-Hogg-Dubé (BHD) syndrome is a rare hereditary disorder associated with autosomal dominant hereditary epithelial carcinomas, in which patients have an increased incidence of renal cell carcinomas, scattered hamartomas, pulmonary cysts, and spontaneous pneumothoraces. Other less common findings include lipomas, parathyroid adenomas, salivary gland tumors, and colonic polyps/tumors. Early diagnosis of BHD can help establish renal screening and reduce mortality by early detection and more effective treatment of renal cell carcinoma. This case report describes the sonographic features of salivary gland oncocytomas found in a patient with BHD.

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Birt-Hogg-Dubé Syndrome: Clinicopathologic Findings and Genetic Alterations

Archives of Pathology & Laboratory Medicine ◽

10.5858/2006-130-1865-bscfag ◽

2006 ◽

Vol 130 (12) ◽

pp. 1865-1870 ◽

Cited By ~ 7

Author(s):

Brian P. Adley ◽

Norm D. Smith ◽

Ritu Nayar ◽

Ximing J. Yang

Keyword(s):

Renal Cell Carcinoma ◽

Cell Carcinoma ◽

Renal Cell ◽

English Literature ◽

Clinical Manifestations ◽

Genetic Alterations ◽

Limited Information ◽

Kidney Tumors ◽

Pulmonary Cysts ◽

Bhd Syndrome

Abstract Context.—Birt-Hogg-Dubé (BHD) syndrome is a rare clinicopathologic condition transmitted in an autosomal dominant fashion. This complex entity is characterized by cutaneous fibrofolliculomas, kidney tumors, pulmonary cysts, and spontaneous pneumothorax. Recently, the gene possibly responsible for the clinical manifestations of BHD syndrome has been cloned and characterized. The few reviews of BHD syndrome found in the English literature mostly focus on the skin lesions or genetics, with limited information on other pathologic changes, particularly the kidney lesions. Objective.—To review the literature on this subject with a special emphasis on BHD syndrome-associated renal pathology as well as recent advances in molecular genetic discovery of the BHD syndrome. Data Sources.—We used all data available after performing a literature search using MEDLINE and searching under the headings “Birt-Hogg-Dubé,” “hybrid oncocytic tumors,” and “folliculin.” Conclusions.—The presence of BHD syndrome should be investigated in any patient with multiple bilateral kidney tumors, especially if the predominant histologic type is chromophobe renal cell carcinoma or the so-called hybrid oncocytic tumor. The genetic alteration for BHD syndrome has been mapped to chromosome 17p12q11, and the gene in this region has been cloned and believed to be responsible for the BHD syndrome. The function of the BHD product, called folliculin, is still unknown, although it is speculated to be a tumor suppressor gene. Numerous mutations have been described in the BHD gene. Studies are ongoing to determine the relationship between the BHD gene and development of sporadic renal cell carcinoma and other lesions.

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Birt-Hogg-Dubé syndrome presenting with spontaneous pneumothorax and extensive pulmonary cysts in the absence of skin lesions or renal pathology

BMJ Case Reports ◽

10.1136/bcr-2019-231039 ◽

2019 ◽

Vol 12 (9) ◽

pp. e231039

Author(s):

Kartik Kumar ◽

Clare Ross

Keyword(s):

Spontaneous Pneumothorax ◽

Autosomal Dominant ◽

Skin Lesions ◽

Lung Cysts ◽

Cystic Lung ◽

Increased Risk ◽

Renal Tumours ◽

Pulmonary Cysts ◽

Dominant Condition ◽

Bhd Syndrome

Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant condition which classically manifests with skin lesions such as fibrofolliculomas, pulmonary cysts that predispose to spontaneous pneumothorax and an increased risk of developing renal cell carcinoma. We describe the case of a patient who presented with a spontaneous pneumothorax on a background of multiple lung cysts, in the absence of cutaneous fibrofolliculomas and renal tumours. A germline mutation in the folliculin FLCN gene was subsequently identified, confirming BHD syndrome. Our case highlights the importance of considering a broad differential diagnosis for the cause of a spontaneous pneumothorax in the presence of unexplained cystic lung disease and emphasises the value of maintaining a high index of clinical suspicion for inherited causes of pneumothoraces.

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Sarcomatoid renal cell carcinoma with autosomal dominant polycystic kidney disease: a case report and literature review

CEN Case Reports ◽

10.1007/s13730-020-00544-z ◽

2020 ◽

Author(s):

Yuji Hakozaki ◽

Kiyotaka Uchiyama ◽

Akane Yanai ◽

Daisuke Yamada ◽

Yuka Kamijo ◽

...

Keyword(s):

Renal Cell Carcinoma ◽

Case Report ◽

Kidney Disease ◽

Literature Review ◽

Cell Carcinoma ◽

Renal Cell ◽

Autosomal Dominant ◽

Polycystic Kidney ◽

Sarcomatoid Renal Cell Carcinoma ◽

Autosomal Dominant Polycystic Kidney

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Horseshoe Kidney in Conjunction With Autosomal Dominant Polycystic Kidney Disease: A Case Report

Journal of Diagnostic Medical Sonography ◽

10.1177/8756479320988290 ◽

2021 ◽

Vol 37 (3) ◽

pp. 298-303

Author(s):

Dakota Philo

Keyword(s):

Case Report ◽

Kidney Disease ◽

Polycystic Kidney Disease ◽

Autosomal Dominant ◽

Horseshoe Kidney ◽

Rare Occurrence ◽

Polycystic Kidney ◽

Sonographic Evaluation ◽

Autosomal Dominant Polycystic Kidney ◽

Extrarenal Involvement

Horseshoe kidney in the presence of autosomal dominant polycystic kidney disease is a rare occurrence of two relatively common and unrelated renal findings. Visualization of multiple, bilateral cysts along with fusion of the kidneys by a midline isthmus can usually isolate these diagnoses. Accurate sonographic evaluation is essential in determining the degree of disease progression and possible complications associated with these diseases. Sonography is also useful in identifying extrarenal involvement and eliminating differential diagnoses.

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