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Case Report: Tuberous sclerosis complex-associated hemihypertrophy successfully treated with mTOR inhibitor sirolimus.
Shimoda, Konomi; Iwasaki, Hiroyuki; Mizuno, Yoko; Seki, Masafumi; Mimaki, Masakazu; Kato, Motohiro; Shinozaki-Ushiku, Aya; Mori, Harushi; Ogawa, Seishi; Mizuguchi, Masashi.
Afiliación
  • Shimoda K; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
  • Iwasaki H; Department of Pediatrics, National Rehabilitation Center for Children with Disabilities, Tokyo, Japan.
  • Mizuno Y; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
  • Seki M; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
  • Mimaki M; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
  • Kato M; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
  • Shinozaki-Ushiku A; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
  • Mori H; Department of Pathology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
  • Ogawa S; Department of Radiology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
  • Mizuguchi M; Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Front Pediatr ; 12: 1333064, 2024.
Article en En | MEDLINE | ID: mdl-38455392
ABSTRACT
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Front Pediatr Año: 2024 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Front Pediatr Año: 2024 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Suiza