PMC4698292_01
Clinical manifestations of BHD in the index patient (a-e and g) and her father (f). a and b Abdominal CT showing renal tumors of the right
a and left
b kidneys, as indicated by white arrows. c, d Representative histopathology of the right
c and left
d renal tumors, revealing eosinophilic variants of chromophobe renal cell carcinomas (x40, H & E staining). e, g Thoracic CT showing lung cysts, as exemplified by white arrows. f Dome-shaped papules on the face of the index patient's father classified as fibrofolliculomas by skin biopsy
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Fig1
Subsequent computer tomography (CT) of the abdomen, thorax and pelvis presented inhomogeneous masses in both kidneys (6.6 x 5.4 cm right and 2.1 x 1.8 cm left) being highly suspicious of renal cancer with no indication of metastases (Fig. 1a, b). Pathology showed two morphologically similar but not identical well differentiated tumours, both signed out as eosinophilic variants of bilateral chromophobe renal carcinomas (Fig. 1c, d). In addition, thoracic CT revealed several small lung cysts, especially in the basilar region (Fig. 1e, g). The presence of familial BHD was supported by the chromophobe histology of the bilateral tumours and by lung cysts in the index patient as well as by the fact that her father had developed multiple of the typical dome-shaped papules at his face and neck in the last years, one of which was classified as fibrofolliculoma by skin biopsy (Fig. 1f).