Erfelijke leiomyomatose: een vrouw met rood-bruine bultjes

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a rare disorder involving multiple organ systems. It is caused by a mutation in the fumarate hydratase (FH) gene. Patients show cutaneous abnormalities or uterine myomas. Approximately 10% of these patients also develop an aggressive type of renal cell carcinoma. A 35-year-old woman was referred by her general practitioner with a number of progressive red-brown nodules on her arms and trunk. A biopsy was taken, revealing cutaneous leiomyoma. On further examination, a small, benign uterine myoma was found. There were no signs of a renal cell carcinoma. Further diagnostic procedures showed a FH mutation, confirming the diagnosis of HLRCC. HRLCC is a rare condition that can be missed easily as clinical symptoms are often subtle. Considering the risk of developing an aggressive form of renal cell carcinoma, it is important to screen these patients thoroughly and to follow them up