Familial leiomyomatosis

A review and discussion of pathogenesis

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

Research output: Contribution to journalArticle

30 Citations (Scopus)

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 - 2003

Fingerprint

Leiomyomatosis
Fumarate Hydratase
Germ-Line Mutation
Leiomyoma
Tumor Suppressor Genes
Renal Cell Carcinoma
Hair
Infertility
Hemorrhage
Pain
Skin
Neoplasms

Keywords

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

ASJC Scopus subject areas

  • Dermatology

Cite this

Garman, M. E., Blumberg, M. A., Ernst, R., & Raimer, S. (2003). Familial leiomyomatosis: A review and discussion of pathogenesis. Dermatology, 207(2), 210-213. https://doi.org/10.1159/000071802

Familial leiomyomatosis : A review and discussion of pathogenesis. / Garman, M. E.; Blumberg, M. A.; Ernst, R.; Raimer, Sharon.

In: Dermatology, Vol. 207, No. 2, 2003, p. 210-213.

Research output: Contribution to journalArticle

Garman, ME, Blumberg, MA, Ernst, R & Raimer, S 2003, 'Familial leiomyomatosis: A review and discussion of pathogenesis', Dermatology, vol. 207, no. 2, pp. 210-213. https://doi.org/10.1159/000071802
Garman, M. E. ; Blumberg, M. A. ; Ernst, R. ; Raimer, Sharon. / Familial leiomyomatosis : A review and discussion of pathogenesis. In: Dermatology. 2003 ; Vol. 207, No. 2. pp. 210-213.
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