Hereditary leiomyomatosis and renal cell cancer syndrome: An update and review

J Am Acad Dermatol. 2017 Jul;77(1):149-158. doi: 10.1016/j.jaad.2017.01.023. Epub 2017 Mar 14.


Hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome is a rare genetic disorder that predisposes individuals to multiple cutaneous leiomyomas, renal cell carcinomas, and in women, uterine leiomyomas. Also known as Reed syndrome, it is caused by a germline heterozygous mutation of the fumarate hydratase tumor suppressor gene. HLRCC is associated with significant morbidity because of pain from cutaneous and uterine leiomyomas, the cutaneous pain often of unique character. Although genetic testing is currently considered the criterion standard to diagnose HLRCC, newer immunohistochemistry markers may provide rapid and cost effective alternatives to genetic testing. Because of the potentially aggressive nature of renal cell carcinomas that develop as early as in childhood, close annual cancer surveillance is desirable in individuals with HLRCC. In this review, we offer an update and an approach to the diagnosis, management, and renal cancer surveillance in HLRCC.

Keywords: Reed syndrome; cancer surveillance; cutaneous leiomyomas; piloleiomyomas; renal cancer; uterine leiomyomas.

Publication types

  • Review

MeSH terms

  • Algorithms
  • Humans
  • Leiomyomatosis / diagnosis*
  • Leiomyomatosis / therapy*
  • Neoplastic Syndromes, Hereditary / diagnosis*
  • Neoplastic Syndromes, Hereditary / therapy*
  • Skin Neoplasms / diagnosis*
  • Skin Neoplasms / therapy*
  • Uterine Neoplasms / diagnosis*
  • Uterine Neoplasms / therapy*

Supplementary concepts

  • Hereditary leiomyomatosis and renal cell cancer