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Numerous Asymptomatic Facial Papules and Multiple Pulmonary Cysts: A Case of Birt-Hogg-Dubé Syndrome

Cutis. 2003 August;72(2):127-131
August 1, 2003|Dermatology
Kupres KA;Krivda SJ;Turiansky GW
Author and Disclosure Information

 

Drs. Kupres, Krivda, and Turiansky report no conflict of interest. The authors report no discussion of off-label use. Dr. Kupres is a Dermatology Resident at San Antonio Uniformed Services Health Education Consortium, Texas. Dr. Krivda is Assistant Professor of Dermatology and Dr. Turiansky is Associate Professor of Dermatology, both with the Uniformed Services University of the Health Sciences, Bethesda, Maryland. Dr. Krivda is also Assistant Chief, Dermatology Service, Walter Reed Army Medical Center, Washington, DC. Dr. Turiansky is also Program Director, National Capital Consortium Dermatology Residency Program, Bethesda and Washington, DC.

The assertions or opinions contained herein are the private views of the authors and are not to be construed as official or as reflecting the views of the US Army or the US Department of Defense.

CPT Krista A. Kupres, MC, USA; LTC Stephen J. Krivda, MC, USA; LTC(P) George W. Turiansky, MC, USA

Accepted for publication June 4, 2003. Dr. Kupres is a Dermatology Resident at San Antonio Uniformed Services Health Education Consortium, Texas. Dr. Krivda is Assistant Professor of Dermatology and Dr. Turiansky is Associate Professor of Dermatology, both with the Uniformed Services University of the Health Sciences, Bethesda, Maryland. Dr. Krivda is also Assistant Chief, Dermatology Service, Walter Reed Army Medical Center, Washington, DC. Dr. Turiansky is also Program Director, National Capital Consortium Dermatology Residency Program, Bethesda and Washington, DC.
The assertions or opinions contained herein are the private views of the authors and are not to be construed as official or as reflecting the views of the US Army or the US Department of Defense.

Birt-Hogg-Dubé syndrome (BHDS) is a rare genodermatosis with cutaneous and systemic findings. We report the case of a 47-year-old woman with BHDS who presented with numerous facial papules and the more recently associated finding of pulmonary cysts. We review recent genetic discoveries and the cutaneous and systemic findings associated with this rare syndrome.

Schulz and Hartschuh9 showed that lesions appearing to be perifollicular fibromas with superficial horizontal sections proved to be fibrofolliculomas on deeper horizontal sections. Thus, the skin lesions in BHDS and Hornstein-Knickenberg syndrome most likely represent a similar pathological process.

Roth et al10 described the first case of renal cell carcinoma in association with BHDS. The patient in their study had bilateral renal cell carcinoma with histopathologic findings demonstrating a chromophobe adenocarcinoma with a mixed population of clear and eosinophilic cells in one tumor and a hypernephroma in the other. Toro et al11 identified 3 extended kindred in whom renal neoplasms (oncocytomas and a variant of papillary renal cell carcinoma) and BHDS appeared to segregate together. In a large study of BHDS-affected and nonaffected family members, Zbar et al12 reported the age-adjusted odds ratio for renal tumor development in patients with BHDS was 6.9 times that of patients who did not have BHDS. Renal tumors in BHDS-affected patients were multiple, and in some patients they were bilateral. Median age for detection was 51 years. The most common type of renal cancer found in BHDS-affected patients was chromophobe renal carcinoma; but chromophobe-oncocytic tumor and clear cell renal carcinoma also were noted. Interestingly, 2 nonaffected family members had single clear cell renal carcinomas.12

Other features of BHDS noted by Toro et al11 were deforming lipomas, collagenomas, and pulmonary cysts and/or pneumothorax. Zbar et al12 also reported the age-adjusted odds ratio for pneumothorax in BHDS-affected individuals to be 50.3 times that of those not affected with BHDS. In addition, pulmonary cysts were present in 83% of BHDS-affected family members compared with 10% of unaffected control members of families with BHDS (P=.0001). These cysts were noted to be well circumscribed and separate from each other, and their location was either basilar, subpleural, or intraparenchymal.12 Other reported associated manifestations of BHDS include: large connective tissue nevus13; oral mucosal papules on the lip, buccal area, and gingivae, which histologically demonstrate parakeratosis, acanthosis, prominent basal cell layer, and a few chronic inflammatory cells in the underlying connective tissue8; multiple spontaneous pneumothoraces, bullous emphysema, lipomas, angiolipomas, parathyroid adenoma, and prostate adenocarcinoma14; flecked chorioretinopathy15; parotid oncocytoma16; and colonic polyps, which are tubular adenomas with mild to marked epithelial dysplasia.17 Colonic neoplasms and colonic polyps have not been found as an associated finding in a large cohort of patients with BHDS.12 Although some of the above associations may be coincidental, screening for renal cancer and pulmonary cysts is recommended.

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