Multiple Cutaneous Leiomyomas with Uterus Myomatosus (MCUL) – Two Case Reports and One New Mutation of FH Gene

  • André Koch Department of Dermatology and Allergology, Städtisches Klinikum Dresden, Academic Teaching Hospital, Dresden, Germany
  • Jacqueline Schönlebe Städtisches Klinikum Dresden, Institute of Pathology "Georg Schmorl", Dresden, Germany
  • Aleksandra Vojvodic Military Medical Academy of Belgrade, Belgrade, Serbia
  • Torello Lotti Department of Dermatology, University of Rome “G. Marconi”, Rome, Italy
  • Uwe Wollina Department of Dermatology and Allergology, Städtisches Klinikum Dresden, Academic Teaching Hospital, Dresden, Germany
Keywords: Fumarate dehydrogenase, Reed syndrome, Leiomyomatosis

Abstract

BACKGROUND: Reed syndrome or multiple cutaneous leiomyomas with uterine leiomyomas are part of the spectrum of heterozygous hereditary disorders with cutaneous, genital and renal manifestations. 

CASE REPORTS: We report two female cases of multiple cutaneous leiomyomas with uterine leiomyomas (MCUL) without renal disease, in particular without cysts or papillary renal carcinoma, aged 52 and 55 years, respectively. The diagnosis of pilar leiomyomas was confirmed by histology and immunostaining for smooth muscle actin and desmin. Both females had a hysterectomy in the past because of uterus myomatosus. In one patient, a new mutation of the FH gene was detected, i.e. a heterozygote c1300_1301del (p.Cys434Argfs17) mutation in the exon 9 of the FH gene.

CONCLUSION: Since MCUL shares features with the genetic cancer syndrome hereditary leiomyomatosis and renal cell carcinoma (HLRCC), these patients need a regular follow-up to prevent the late diagnosis of renal cancer.

carcinoma (HLRCC), these patients need a regular follow-up to prevent late diagnosis of renal cancer.

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Published
2019-07-30
How to Cite
1.
Koch A, Schönlebe J, Vojvodic A, Lotti T, Wollina U. Multiple Cutaneous Leiomyomas with Uterus Myomatosus (MCUL) – Two Case Reports and One New Mutation of FH Gene. Open Access Maced J Med Sci [Internet]. 2019Jul.30 [cited 2020Oct.20];7(18):3026-9. Available from: https://www.id-press.eu/mjms/article/view/oamjms.2019.625

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