Hereditary Leiomyomatosis and Renal Cell Carcinoma: A Case Report

Authors

  • Patcharasinee Prasunnakarn INSTITUTE OF DERMATOLOGY, MINISTRY OF PUBLIC HEALTH, BANGKOK, THAILAND.
  • Patnapa Vejanurug INSTITUTE OF DERMATOLOGY, MINISTRY OF PUBLIC HEALTH, BANGKOK, THAILAND.
  • Chakkrapong Chunhasewee INSTITUTE OF DERMATOLOGY, MINISTRY OF PUBLIC HEALTH, BANGKOK, THAILAND.

Keywords:

Cutaneous leiomyomas, leiomyoma, hereditary leiomyomatosis and renal cell carcinoma, fumarate hydratase gene

Abstract

Multiple cutaneous leiomyomas, benign smooth muscle tumors, most often occur as part of a disease known as hereditary leiomyomatosis and renal cell carcinoma (HLRCC). HLRCC is a rare autosomal dominant syndrome resulted from a germline heterozygous mutation of fumarate hydratase gene on chromosome 1q42.3–q43. It is characterized by multiple cutaneous leiomyomas, renal cell carcinomas, and in women, uterine leiomyomas. The condition was previously known as multiple cutaneous and uterine leiomyomatosis or Reed syndrome. We report a case of 49-year-old male patient who presented with multiple asymptomatic, reddish brown colored, slow-growing papules on his left cheek for over a year. Skin biopsy of the lesion showed the diagnosis of leiomyoma. Direct sequence analysis of the patient’s blood sample showed a heterozygous germline missense mutation of fumarate hydratase gene which led to the diagnosis of HLRCC.

References

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Published

2021-08-17

How to Cite

Prasunnakarn, P., Vejanurug, P., & Chunhasewee, C. (2021). Hereditary Leiomyomatosis and Renal Cell Carcinoma: A Case Report. Thai Journal of Dermatology, 37(3), 109–14. Retrieved from https://he02.tci-thaijo.org/index.php/TJD/article/view/249507

Issue

Vol. 37 No. 3 (2021): July - September

Section

Case Report

License

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