To report a diagnosis of hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome following initial presentation with multiple cutaneous lesions.
Case report.
N/A.
Academic tertiary care center.
27-year-old nulligravid woman who presented with multiple red-brown lesions on her skin found to have cutaneous and uterine leiomyoma.
Biopsy of cutaneous lesions and fertility sparing robot-assisted laparoscopic myomectomy (RALM).
Histological assessment of uterine leiomyoma.
Pathologic examination of uterine leiomyoma revealed diffuse atypia and fumarate hydratase loss phenotype concerning for genetic syndrome. Follow-up DNA sequencing via Sanger sequencing confirmed a pathogenetic R2333H mutation consistent with HLRCC.
Consideration of HLRCC on differential diagnosis when patients present with cutaneous nodules and atypical or early onset uterine leiomyoma provides opportunity for early surveillance, family member testing, and more thoughtful surgical planning.
27-year-old woman with multiple cutaneous lesions is found to have uterine leiomyomas and undergoes robotic myomectomy. Genetic testing of uterine leiomyomas reveals mutation in fumarate hydratase, etiologic in hereditary leiomyomatosis and renal cell cancer (HLRCC).
Case reports in women's health. 2017 Jun 23*** epublish ***
Pietro Bortoletto, Jennifer L Lindsey, Liping Yuan, Bradley J Quade, Antonio R Gargiulo, Cynthia C Morton, Elizabeth A Stewart, Raymond M Anchan
Division of Reproductive Endocrinology and Infertility, Boston, MA, USA., Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA., Harvard Medical School, Boston, MA, USA., Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital, Boston, MA, USA., Division of Reproductive Endocrinology, Departments of Obstetrics and Gynecology and Surgery, Mayo Clinic, Mayo Clinic School of Medicine, Rochester, MN, USA.