Multiple Cutaneous Leiomyomas with Uterus Myomatosus (MCUL) - Two Case Reports and One New Mutation of FH Gene.
Fumarate dehydrogenase
Leiomyomatosis
Reed syndrome
Journal
Open access Macedonian journal of medical sciences
ISSN: 1857-9655
Titre abrégé: Open Access Maced J Med Sci
Pays: North Macedonia
ID NLM: 101662294
Informations de publication
Date de publication:
30 Sep 2019
30 Sep 2019
Historique:
received:
12
05
2019
revised:
16
07
2019
accepted:
17
07
2019
entrez:
19
12
2019
pubmed:
19
12
2019
medline:
19
12
2019
Statut:
epublish
Résumé
Reed syndrome or multiple cutaneous leiomyomas with uterine leiomyomas are part of the spectrum of heterozygous hereditary disorders with cutaneous, genital and renal manifestations. 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. 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.
Sections du résumé
BACKGROUND
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
METHODS
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
CONCLUSIONS
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.
Identifiants
pubmed: 31850115
doi: 10.3889/oamjms.2019.625
pii: OAMJMS-7-3026
pmc: PMC6910784
doi:
Types de publication
Case Reports
Langues
eng
Pagination
3026-3029Informations de copyright
Copyright: © 2019 André Koch, Jacqueline Schönlebe, Aleksandra Vojvodic, Torello Lotti, Uwe Wollina.
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