Hereditary leiomyomatosis and renal cell cancer: Cutaneous lesions & atypical fibroids

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...

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Bibliographic Details
Published in:Case reports in women's health 2017-07, Vol.15 (C), p.31-34
Main Authors: Bortoletto, Pietro, Lindsey, Jennifer L., Yuan, Liping, Quade, Bradley J., Gargiulo, Antonio R., Morton, Cynthia C., Stewart, Elizabeth A., Anchan, Raymond M.
Format: Article
Language:English
Subjects:
Cutaneous lesions
Fibroids
Hereditary leiomyomatosis and renal cell cancer
HLRCC
Leiomyoma
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Summary: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). •Atypical skin findings and fibroids warrant consideration of HLRCC on the differential diagnosis.•Consider similar genetic testing and management as those with Lynch syndrome associated endometrial cancer.•Pre-operative planning should take HLRCC into consideration when considering tissue containment and removal strategies.
ISSN:2214-9112
2214-9112
DOI:10.1016/j.crwh.2017.06.004