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Training Level

Resident PGY 4


Henry Ford Hospital


Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome is a rare genetic disease, due to mutations in the fumarate hydratase gene. It is characterized by cutaneous leiomyomata, uterine leiomyomata and renal tumor. Here, we present a case report of such rare syndrome, underscoring the significance of clinical-pathologic correlation. A 54 years old Bengali male presented with multiple painful large firm skin-colored to brown skin lesions over left lower chest/ upper abdomen and back in a T6 dermatomal distribution. He has had such lesions for 26 years, with increase in size and number as well as worsening of pain over time. Patient did seek medical help due to progressive severe pain in recent weeks. A 4-mm punch biopsy of skin lesion on left chest was performed and the histopathological examination revealed a proliferation of smooth muscle in the reticular dermis, consistent with leiomyoma. The positive immunohistochemical staining for smooth muscle antigen (SMA) supported the diagnosis. Since this patient has the major criterion for HLRCC, histopathologically confirmed multiple cutaneous leiomyomata, he most likely has this syndrome. However, mutation analysis, genetic counseling and, more importantly, the evaluation of kidneys for possible malignancy are hindered due to the lack of insurance coverage for genetic testing.

Presentation Date


Significance of Clinical-Pathologic Correlation in a Case of HLRCC