First Presentation of Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Pregnancy

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Abstract

Background:

Reed's syndrome, also known as hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome, is an autosomal dominant condition in which affected individuals may develop cutaneous leiomyomas, uterine fibroids, and renal cell carcinoma.

Objective:

This report describes a unique case of HLRCC because it presented in pregnancy with development of cutaneous pilar leiomyomas.

Methods:

Review of the literature for previous cases of Reed's syndrome during pregnancy including PubMed and Medline search.

Results:

Genetic testing of this patient demonstrated a mutation in the fumarate hydratase (FH) gene. Review of the literature showed only 1 previous case series that described the onset of cutaneous lesions during pregnancy.

Conclusion:

This case serves as a reminder that there may exist a correlation between pregnancy and the first manifestation of cutaneous lesions in patients with HLRCC, and thus an increased clinical suspicion is warranted during this period.

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