Cutaneous and uterine leiomyomatosis and ovarian cystadenoma associated with deficiency of fumerate hydratase

Cornelia Hüller; Norbert Grunow; Torsten Nadler; Michael Bär

doi:10.5826/dpc.0101a07

Cutaneous and uterine leiomyomatosis and ovarian cystadenoma associated with deficiency of fumerate hydratase

Authors

Cornelia Hüller Department of Dermatology, Görlitz Municipal Hospital, Görlitz, Germany
Norbert Grunow Department of Pathology, Görlitz Municipal Hospital, Görlitz, Germany
Torsten Nadler Department of Gynecology, Görlitz Municipal Hospital, Görlitz, Germany
Michael Bär Department of Dermatology, Görlitz Municipal Hospital, Görlitz, Germany

Keywords:

uterine leiomyomatosis, ovarian cystadenoma, fumerate hydratase

Abstract

We report on an exceedingly rare case of cutaneous and uterine leiomyomatosis in a 58-year-old Caucasian woman associated with ovarian cystadenoma and complete deletion of the fumarate hydratase gene. All patients and their family members with verified mutation have to be regularly screened for associated neoplasms, in particular papillary renal cell carcinoma (HLRCC, hereditary leiomyomatosis and renal cell cancer).

References

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