A novel missense mutation in fumarate hydratase in an italian patient with a diffuse variant of cutaneous leiomyomatosis (Reed's syndrome)

F. Rongioletti, V. Fausti, B. Ferrando, A. Parodi, P. Mandich, B. Pasini

Research output: Contribution to journalArticlepeer-review

Abstract

Background: The multiple cutaneous and uterine leiomyomatosis syndrome (MCUL) is a rare autosomal dominant condition characterized by cutaneous leiomyomatosis in both sexes and uterine leiomyomas in women. This syndrome overlaps with hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome. Methods: We report an Italian family in which the finding of multiple cutaneous leiomyomas in the proband, a 46-year-old woman, led to the diagnosis of Reed's syndrome and to a general and genetic screening. Results: DNA sequencing in the proband disclosed a missense mutation designated p.Asp341Tyr that has not been reported previously. Interestingly, the patient's mother had a clear-cell-type renal cancer removed at the age of 57 years. Conclusion: Cutaneous leyomiomas are the clinical and histological clue leading to the diagnosis of MCUL or HLRCC. Dermatologists should be aware that a correct evaluation of a patient with cutaneous leiomyomas involves a complete medical and family history, physical examination and a genetic counseling.

Original languageEnglish
Pages (from-to)378-380
Number of pages3
JournalDermatology
Volume221
Issue number4
DOIs
Publication statusPublished - Dec 2010

Keywords

  • Cutaneous leiomyomatosis
  • Fumarate hydratase
  • Reed's syndrome

ASJC Scopus subject areas

  • Dermatology

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