PMID- 38455392
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20240309
IS  - 2296-2360 (Print)
IS  - 2296-2360 (Electronic)
IS  - 2296-2360 (Linking)
VI  - 12
DP  - 2024
TI  - Case Report: Tuberous sclerosis complex-associated hemihypertrophy successfully 
      treated with mTOR inhibitor sirolimus.
PG  - 1333064
LID - 10.3389/fped.2024.1333064 [doi]
LID - 1333064
AB  - Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by a 
      mutation in either of the two tumor suppressor genes, TSC1 and TSC2. 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 TSC1 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.
CI  - (c) 2024 Shimoda, Iwasaki, Mizuno, Seki, Mimaki, Kato, Shinozaki-Ushiku, Mori, 
      Ogawa and Mizuguchi.
FAU - Shimoda, Konomi
AU  - Shimoda K
AD  - Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, 
      Tokyo, Japan.
AD  - Department of Pediatrics, National Rehabilitation Center for Children with 
      Disabilities, Tokyo, Japan.
FAU - Iwasaki, Hiroyuki
AU  - Iwasaki H
AD  - Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, 
      Tokyo, Japan.
FAU - Mizuno, Yoko
AU  - Mizuno Y
AD  - Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, 
      Tokyo, Japan.
FAU - Seki, Masafumi
AU  - Seki M
AD  - Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, 
      Tokyo, Japan.
FAU - Mimaki, Masakazu
AU  - Mimaki M
AD  - Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, 
      Tokyo, Japan.
FAU - Kato, Motohiro
AU  - Kato M
AD  - Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, 
      Tokyo, Japan.
FAU - Shinozaki-Ushiku, Aya
AU  - Shinozaki-Ushiku A
AD  - Department of Pathology, Graduate School of Medicine, The University of Tokyo, 
      Tokyo, Japan.
FAU - Mori, Harushi
AU  - Mori H
AD  - Department of Radiology, Graduate School of Medicine, The University of Tokyo, 
      Tokyo, Japan.
FAU - Ogawa, Seishi
AU  - Ogawa S
AD  - Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto 
      University, Kyoto, Japan.
AD  - Institute for the Advanced Study of Human Biology, Kyoto University, Kyoto, 
      Japan.
FAU - Mizuguchi, Masashi
AU  - Mizuguchi M
AD  - Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, 
      Tokyo, Japan.
AD  - Department of Pediatrics, National Rehabilitation Center for Children with 
      Disabilities, Tokyo, Japan.
AD  - Department of Developmental Medical Sciences, Graduate School of Medicine, The 
      University of Tokyo, Tokyo, Japan.
LA  - eng
PT  - Case Reports
DEP - 20240221
PL  - Switzerland
TA  - Front Pediatr
JT  - Frontiers in pediatrics
JID - 101615492
PMC - PMC10919150
OTO - NOTNLM
OT  - hemihypertrophy
OT  - limb overgrowth
OT  - loss of heterozygosity
OT  - mTOR inhibitor
OT  - pharmacological treatment
OT  - somatic mutation
OT  - tuberous sclerosis complex
COIS- The authors declare that the research was conducted in the absence of any 
      commercial or financial relationships that could be construed as a potential 
      conflict of interest.
EDAT- 2024/03/08 06:42
MHDA- 2024/03/08 06:43
PMCR- 2024/02/21
CRDT- 2024/03/08 04:00
PHST- 2023/11/04 00:00 [received]
PHST- 2024/02/12 00:00 [accepted]
PHST- 2024/03/08 06:43 [medline]
PHST- 2024/03/08 06:42 [pubmed]
PHST- 2024/03/08 04:00 [entrez]
PHST- 2024/02/21 00:00 [pmc-release]
AID - 10.3389/fped.2024.1333064 [doi]
PST - epublish
SO  - Front Pediatr. 2024 Feb 21;12:1333064. doi: 10.3389/fped.2024.1333064. 
      eCollection 2024.