case_images: PMC3985789_01
case_images: The abdominal CT revealed a low-density area on the left kidney of a 37-year-old female with BHD (a), which was histopathologically diagnosed as clear cell carcinoma. On gross examination, the resected kidney contained a partially hemorrhagic, yellowish, solid tumor (b). The tumor was composed of cells with clear to acidophilic cytoplasm (hematoxylin-eosin stain; c), which were positive for vimentin stain (d; 200x magnification). The thoracic CT revealed bilateral, multiple PCs in the basilar and mediastinal regions (e). Microscopic findings for the lung revealed that the septum of the cyst wall contained capillaries and was lined by pneumocytes on both surfaces (f; 200x magnification). Quiet, skin-colored papules were present on the patient's face (g). There were few pinkish-colored, verrucous papules on the scalp (h). Histopathological images (hematoxylin-eosin) of the FF. The stoma was rich in fibroblasts and was oriented in parallel bundles of root sheath-like fibers and neighboring enlarged hair follicles [20x magnification (i) and 200x magnification (j)] positive for factor 13a (k) and c-kit (l; 400x magnification).
case_images: cde-0006-0020-g01.jpg
case_images: PMC3985789_01_cde-0006-0020-g01.jpg
case_images: F1
case_images: The first patient was a 37-year-old female who presented with an asymptomatic left renal tumor that was revealed by ultrasound and computed tomography (CT) examinations (fig. 1a). The CT examination also revealed the presence of asymptomatic bilateral multiple PCs (fig. 1e). Since the age of 35, a few firm papules had developed on her face and head (fig. 1g, h). On gross examination, the resected kidney was a yellowish, solid tumor with partial hemorrhage (fig. 1b). The tumor was identified as a clear cell renal carcinoma (fig. 1c) positive for vimentin stain (fig. 1d) and negative for CK-7. A skin biopsy of the papule on her head revealed it was a fibrofolliculoma (FF; fig. 1i, j) positive for factor 13a (fig. 1k) and c-kit (fig. 1l), and negative for CD34, alpha-smooth muscle actin (alpha-SMA), S100, and CD68.
case_images: PMC3985789_02
case_images: The abdominal CT revealed a low-density area on the right kidney of a 35-year-old male with BHD (a). The tumor was composed of cells with eosinophilic cytoplasm (hematoxylin-eosin; b), was partially positive for CK7 (c; 200x magnification) and colloidal iron (d; 400x magnification), and histopathologically diagnosed as chromophobe cell carcinoma. A thoracic CT revealed the presence of bilateral, basally located, multiple PCs (e). Pedigrees of the families affected with recurrent pneumothorax (f). Skin-colored papules were present on the nose (g). Histopathological images (hematoxylin-eosin) of the FFs [40x magnification (h) and 200x magnification (i)] positive for factor 13a (j) and c-kit (k; 400x magnification).
case_images: cde-0006-0020-g02.jpg
case_images: PMC3985789_02_cde-0006-0020-g02.jpg
case_images: F2
case_images: The presence of the tumor was revealed by ultrasound and CT examinations (fig. 2a). A laparoscopic right partial nephrectomy was performed, and the tumor was diagnosed as a chromophobe renal cell carcinoma (RC; fig. 2b). The carcinoma was negative for CD10, vimentin, and c-kit, and was partially positive for CK-7 (fig. 2c) and colloidal iron (fig. 2d). When the patient was 40 years of age, a CT examination revealed the presence of asymptomatic bilateral multiple PCs (fig. 2e). His mother, aunt, uncle, and grandfather all had histories of recurrent pneumothorax (fig. 2f). A few firm papules were also present on the patient's face (fig. 2g). The results of the skin biopsies revealed that the papules were FFs (fig. 2h, i) positive for factor 13a (fig. 2j) and c-kit (fig. 2k), and negative for CD34, alpha-SMA, S100, and CD68.