Sirolimus (Rapamycin) for Slow-Flow Malformations in Children
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Open Access
- 15 September 2021
- journal article
- research article
- Published by American Medical Association (AMA) in JAMA Dermatology
- Vol. 157 (11) , 1289-1298
Abstract
Vascular anomalies include a heterogeneous group of disorders divided into vascular tumors (characterized by vascular cell hyperplasia) and vascular malformations (due to defective embryologic vasculogenesis).1 Slow-flow vascular malformations include capillary malformations, venous malformations (VMs), lymphatic malformations (LMs), or combinations of these malformations. Several pathogenic, somatic, activating variants in the genes involved in vascular angiogenesis and lymphangiogenesis have been identified in vascular malformations, such as in PIK3CA (OMIM 171834) and TEK (OMIM 600221). PIK3CA variants have been identified mainly in combined vascular malformations associated with overgrowth, such as CLOVES (congenital lipomatous overgrowth, vascular malformations, epidermal nevis, spinal or skeletal anomalies or scoliosis) or Klippel-Trenaunay syndrome, but also in several cases of pure LMs and VMs,2-5 whereas TEK variants are more commonly found in VMs.6,7Keywords
This publication has 43 references indexed in Scilit:
- A Generalization of the «Lady-Tasting-Tea» Procedure to Link Qualitative and Quantitative Approaches in Psychiatric ResearchInternational Journal of Statistics in Medical Research, 2013
- Variable Somatic TIE2 Mutations in Half of Sporadic Venous MalformationsMolecular Syndromology, 2013
- Sirolimus in pediatric renal transplantationPediatric Transplantation, 2011
- Sirolimus for the treatment of complicated vascular anomalies in childrenPediatric Blood & Cancer, 2011
- Comparative Analysis of Adverse Events Requiring Suspension of mTOR Inhibitors: Everolimus versus SirolimusTransplantation Proceedings, 2010
- Angiogenic and prothrombotic markers in extensive slow-flow vascular malformations: implications for antiangiogenic/antithrombotic strategiesBritish Journal of Dermatology, 2009
- Rapamycin Inhibition of the Akt/mTOR Pathway Blocks Select Stages of VEGF-A 164 –Driven Angiogenesis, in Part by Blocking S6KinaseArteriosclerosis, Thrombosis, and Vascular Biology, 2009
- Inhibition of the mammalian target of rapamycin impedes lymphangiogenesisKidney International, 2007
- Cutaneous Adverse Events in Renal Transplant Recipients Receiving Sirolimus-Based Therapy1Transplantation, 2005
- Dermatology Life Quality Index (DLQI)-a simple practical measure for routine clinical useClinical and Experimental Dermatology, 1994