AUTHOR=Shimoda Konomi , Iwasaki Hiroyuki , Mizuno Yoko , Seki Masafumi , Mimaki Masakazu , Kato Motohiro , Shinozaki-Ushiku Aya , Mori Harushi , Ogawa Seishi , Mizuguchi Masashi 

TITLE=Case Report: Tuberous sclerosis complex-associated hemihypertrophy successfully treated with mTOR inhibitor sirolimus

JOURNAL=Frontiers in Pediatrics

VOLUME=12

YEAR=2024

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2024.1333064

DOI=10.3389/fped.2024.1333064

ISSN=2296-2360

ABSTRACT=<p>Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by a mutation in either of the two tumor suppressor genes, <italic>TSC1</italic> and <italic>TSC2</italic>. Due to dysregulated activity of the mammalian target of rapamycin (mTOR) pathway, hamartomas or benign tumors frequently occur in many organs and are often treated with mTOR inhibitors. Hemihypertrophy is a rare complication of TSC. Although not being a tumor, progressive overgrowth of the affected limb may cause cosmetic and functional problems, for which the efficacy of mTOR inhibitors has not been reported previously. We herein report a case of TSC-associated hemihypertrophy. In this case, genetic studies revealed <italic>TS</italic>C<italic>1</italic> loss of heterozygosity as the cause of hemihypertrophy. Clinically, pharmacological treatment with an mTOR inhibitor sirolimus successfully ameliorated cosmetic and functional problems with no intolerable adverse effects.</p>