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成人患者 CLOVES 综合征的诊断与治疗。

CLOVES Syndrome Diagnosis and Treatment in an Adult Patient.

机构信息

Life and Health Science Research Institute (ICVS), School of Health Science, University of Minho; Serviço de Cirurgia Vascular e Centro Académico do Hospital da Senhora da Oliveira Guimarães, Portugal.

Vascular Anomalies Center, Department of Pediatric Surgery, La Paz Children's Hospital, Madrid, Spain.

出版信息

Ann Vasc Surg. 2021 Aug;75:533.e5-533.e9. doi: 10.1016/j.avsg.2021.03.044. Epub 2021 Apr 24.

DOI:10.1016/j.avsg.2021.03.044
PMID:33905855
Abstract

CLOVES syndrome is a rare, nonheritable sporadic overgrowth disorder. In the world 130-200 cases have been reported. This is the first case of CLOVES described in Portugal, which had been not been diagnosed for the last 36 years. With this paper, the authors look to highlight the clinical features of this syndrome so that it does not go unrecognized in daily practice. The authors also underline the efficacy and safety of sirolimus, and that this treatment should not be denied, even in adult patients.

摘要

CLOVES 综合征是一种罕见的、非遗传性的散发性过度生长疾病。在世界范围内,已经报告了 130-200 例病例。这是葡萄牙首例描述的 CLOVES 病例,该病例在过去 36 年中一直未被诊断出来。通过本文,作者旨在强调该综合征的临床特征,以免在日常实践中漏诊。作者还强调了西罗莫司的疗效和安全性,即使是在成年患者中,也不应拒绝这种治疗。

相似文献

1
CLOVES Syndrome Diagnosis and Treatment in an Adult Patient.成人患者 CLOVES 综合征的诊断与治疗。
Ann Vasc Surg. 2021 Aug;75:533.e5-533.e9. doi: 10.1016/j.avsg.2021.03.044. Epub 2021 Apr 24.
2
CLOVES syndrome: Treatment with oral Rapamycin. Report of two cases.CLOVES综合征:口服雷帕霉素治疗。两例报告。
Rev Chil Pediatr. 2019 Dec;90(6):662-667. doi: 10.32641/rchped.v90i6.1025.
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Targeted therapy in patients with PIK3CA-related overgrowth syndrome.PIK3CA 相关过度生长综合征患者的靶向治疗。
Nature. 2018 Jun;558(7711):540-546. doi: 10.1038/s41586-018-0217-9. Epub 2018 Jun 13.
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What is your diagnosis?你的诊断是什么?
An Bras Dermatol. 2016 May-Jun;91(3):378-80. doi: 10.1590/abd1806-4841.20165897.
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[CLOVES syndrome: a malformational syndrome closely resembling Proteus syndrome].CLOVES综合征:一种与变形综合征极为相似的畸形综合征
Ann Dermatol Venereol. 2014 Aug-Sep;141(8-9):507-13. doi: 10.1016/j.annder.2014.04.119. Epub 2014 Jun 2.
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Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum: A brief report.磷脂酰肌醇-4,5-二磷酸3-激酶催化亚基α(PIK3CA)相关过度生长谱系:简要报告。
Pediatr Dermatol. 2018 May;35(3):e186-e188. doi: 10.1111/pde.13441. Epub 2018 Mar 1.
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CLOVES syndrome.CLOVES综合征。
J Hand Surg Am. 2013 Dec;38(12):2508-12. doi: 10.1016/j.jhsa.2013.08.120. Epub 2013 Oct 23.
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Cloves syndrome: a case report and perinatal diagnostic findings.丁香综合征:一例病例报告及围产期诊断结果
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Alpelisib Treatment for Genital Vascular Malformation in a Patient with Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Spinal/Skeletal Anomalies and/or Scoliosis (CLOVES) Syndrome.阿哌利西治疗患有先天性脂肪瘤过度生长、血管畸形、表皮痣以及脊柱/骨骼异常和/或脊柱侧弯(CLOVES)综合征患者的生殖器血管畸形
J Pediatr Adolesc Gynecol. 2019 Dec;32(6):648-650. doi: 10.1016/j.jpag.2019.07.003. Epub 2019 Jul 19.
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CLOVE Syndrome.
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引用本文的文献

1
Real-World Data on the Use of Sirolimus in Asian Children with Vascular Malformations.亚洲血管畸形儿童使用西罗莫司的真实世界数据。
Paediatr Drugs. 2024 May;26(3):309-317. doi: 10.1007/s40272-023-00605-7. Epub 2024 Jan 27.
2
Case report: a step-by-step body contouring approach in a case of young patient with CLOVES syndrome.病例报告:一名患有 CLOVES 综合征的年轻患者的逐步身体塑形方法。
Case Reports Plast Surg Hand Surg. 2023 Dec 8;10(1):2290532. doi: 10.1080/23320885.2023.2290532. eCollection 2023.
3
PIK3CA-related overgrowth spectrum (PROS): a rare case report.
PIK3CA相关过度生长谱系疾病(PROS):一例罕见病例报告
Ann Med Surg (Lond). 2023 Apr 7;85(5):2001-2006. doi: 10.1097/MS9.0000000000000485. eCollection 2023 May.
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Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts.不完全显性与可变表达:从临床研究到人群队列
Front Genet. 2022 Jul 25;13:920390. doi: 10.3389/fgene.2022.920390. eCollection 2022.