Asymptomatic renal cell carcinoma as a finding of Bardet Biedl syndrome.
Retinitis pigmentosa represents a class of disorders that exhibit dystrophy of the photoreceptors, pigment epithelium, and often systemic abnormalities, Bardet-Biedl syndrome is a form of retinitis pigmentosa that has characteristic non-ocular findings including polydactyly, obesity, learning difficulties, male hypogonadism, and renal anomalies. Though none of these renal anomalies are neoplastic, there is a 17 fold increased risk for renal cell carcinoma in obligate carriers of Bardet-Biedl syndrome. Herein, we describe a case of metastatic renal cell carcinoma discovered in a patient with Bardet-Biedl syndrome.
Zaldivar
Renzo A
RA
Mayo Clinic Department of Ophthalmology, Rochester, Minnesota 55905, USA.
Neale
Matthew D
MD
Evans
William E
WE
Pulido
Jose S
JS
D000328:Adult; D020788:Bardet-Biedl Syndrome / Q000150:complications*; D002292:Carcinoma, Renal Cell / Q000150:complications* / Q000000981:diagnostic imaging / Q000628:therapy; D017809:Fatal Outcome; D006801:Humans; D007680:Kidney Neoplasms / Q000150:complications* / Q000000981:diagnostic imaging / Q000628:therapy; D008297:Male; D009361:Neoplasm Invasiveness; D010166:Palliative Care; D014057:Tomography, X-Ray Computed