Significance of Clinical-Pathologic Correlation in a Case of Hereditary Leiomyomatosis and Renal Cell Carcinoma (HLRCC) Syndrome
Recommended Citation
Tashakori M, Hertel D, Huggins RH, Williamson SR, Ormsby AH. Significance of Clinical-Pathologic Correlation in a Case of Hereditary Leiomyomatosis and Renal Cell Carcinoma (HLRCC) Syndrome. Am J Dermatopathol 2017; 39(8):e134.
Document Type
Conference Proceeding
Publication Date
8-1-2017
Publication Title
Am J Dermatopathol
Abstract
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome is a rare genetic disease, due to mutations in the fumarate hydratase gene, characterized by cutaneous leiomyomata, uterine leiomyomata and renal tumors. We present a case report of this rare syndrome in a 54-year-old Bengali male presenting with multiple painful large firm lesions 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. A 4 mm punch biopsy of skin lesion on the left chest was performed and the histopathological examination revealed a proliferation of smooth muscle in the reticular dermis, consistent with leiomyoma with positive immunohistochemical staining for smooth muscle antigen (SMA). Since this patient has the major criterion for HLRCC, histopathologically confirmed multiple cutaneous leiomyomata, he most likely has this syndrome. Mutation analysis, genetic counseling and the evaluation of kidneys for possible malignancy are in process.
Volume
39
Issue
8
First Page
e134
