Familial leiomyomatosis: A review and discussion of pathogenesis

M. E. Garman, M. A. Blumberg, R. Ernst, Sharon S. Raimer

Research output: Contribution to journalReview articlepeer-review

33 Scopus citations

Abstract

Multiple cutaneous leiomyomas of pilar origin have long been recognized to have an autosomal dominant inheritance. While the skin tumors are relatively uncommon and benign, women of affected families often develop uterine fibroids with associated infertility, pain and bleeding. In addition, a subset of these families harbors a predisposition to papillary renal cell carcinoma. Germ-line mutations in a recently identified classical tumor suppressor gene encoding fumarate hydratase are observed in these individuals. Appropriate screening measures for associated disorders are mandatory.

Original languageEnglish (US)
Pages (from-to)210-213
Number of pages4
JournalDermatology
Volume207
Issue number2
DOIs
StatePublished - Sep 4 2003

Keywords

  • Cutaneous leiomyoma
  • Fumarate hydratase
  • Papillary renal cell carcinoma
  • Uterine fibroid

ASJC Scopus subject areas

  • Dermatology

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