| Title |
Case report: Uterine leiomyoma with fumarate hydratase deficiency / |
| Authors |
Bužinskienė, Diana ; Grinciūtė, Dominyka ; Šilkūnas, Mindaugas ; Šidlovska, Evelina |
| DOI |
10.3389/fmed.2024.1391978 |
| Full Text |
|
| Is Part of |
Frontiers in medicine.. Lausanne : Frontiers Media SA. 2024, vol. 11, art. no. 1391978, p. [1-6].. eISSN 2296-858X |
| Keywords [eng] |
case report ; hereditary leiomyomatosis and renal cell carcinoma ; skin leiomyomatosis ; uterine leiomyomatosis ; fumarate hydratase |
| Abstract [eng] |
Hereditary leiomyomatosis and renal cell cancer syndrome is a rare autosomal dominant disease caused by mutations in the fumarate hydratase gene. The syndrome is characterized by skin leiomyomatosis, uterine leiomyomatosis, and renal cell carcinoma. Herein, we report a case of fumarate hydratase deficient leiomyoma. The patient was a young female presenting with large uterine leiomyoma and multiple kidney angiomyolipomas. The report presents the chosen treatment and the challenges of differential diagnosis. |
| Published |
Lausanne : Frontiers Media SA |
| Type |
Journal article |
| Language |
English |
| Publication date |
2024 |
| CC license |
|
