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

OBJECTIVE

To report a diagnosis of hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome following initial presentation with multiple cutaneous lesions.

DESIGN

Case report.

DESIGN CLASSIFICATION

N/A.

SETTING

Academic tertiary care center.

PATIENTS

27-year-old nulligravid woman who presented with multiple red-brown lesions on her skin found to have cutaneous and uterine leiomyoma.

INTERVENTIONS

Biopsy of cutaneous lesions and fertility sparing robot-assisted laparoscopic myomectomy (RALM).

MAIN OUTCOME MEASURESS

Histological assessment of uterine leiomyoma.

RESULTSS

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.

CONCLUSIONS

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.

PRECIS

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).