[1]
|
中华医学会整形外科分会血管瘤和脉管畸形学组. 血管瘤和脉管畸形的诊断及治疗指南(2019版) [J]. 组织工程与重建外科杂志, 2019, 15(5): 277-317.
|
[2]
|
Tatton-Brown, K. and Weksberg, R. (2013) Molecular Mechanisms of Childhood Overgrowth. American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 163, 71-75. https://doi.org/10.1002/ajmg.c.31362
|
[3]
|
Keppler-Noreuil, K.M., Rios, J.J., Parker, V.E.R., et al. (2015) PIK3CA-Related Overgrowth Spectrum (PROS): Diagnostic and Testing Eligibility Criteria, Differential Diagnosis, and Evaluation. American Journal of Medical Genetics Part A, 167, 287-295. https://doi.org/10.1002/ajmg.a.36836
|
[4]
|
Alomar, S., Khedr, R.E. and Alajlan, S. (2019) CLOVES Syndrome in a Nine-Month-Old Infant. Cureus, 11, e5772. https://doi.org/10.7759/cureus.5772
|
[5]
|
Bertino, F., Braithwaite, K.A., Hawkins, C.M., et al. (2019) Congenital Limb Overgrowth Syndromes Associated with Vascular Anomalies. Radiographics, 39, 491-515. https://doi.org/10.1148/rg.2019180136
|
[6]
|
Sapp, J.C., Turner, J.T., van de Kamp, J.M., et al. (2007) Newly Delineated Syndrome of Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi (CLOVE Syndrome) in Seven Patients. American Journal of Medical Genetics. Part A, 143A, 2944-2958. https://doi.org/10.1002/ajmg.a.32023
|
[7]
|
Alomari, A.I. (2009) Characterization of a Distinct Syndrome That Associates Complex Truncal Overgrowth, Vascular, and Acral Anomalies: A Descriptive Study of 18 Cases of CLOVES Syndrome. Clinical Dysmorphology, 18, 1-7. https://doi.org/10.1097/MCD.0b013e328317a716
|
[8]
|
Alomari, A.I., Chaudry, G., Rodesch, G., et al. (2011) Complex Spinal-Paraspinal Fast-Flow Lesions in CLOVES Syndrome: Analysis of Clinical and Imaging Findings in 6 Patients. American Journal of Neuroradiology, 32, 1812-1817. https://doi.org/10.3174/ajnr.A2349
|
[9]
|
Keppler-Noreuil, K.M., Sapp, J.C., Lindhurst, M.J., et al. (2014) Clinical Delineation and Natural History of the PIK3CA-Related Overgrowth Spectrum. American Journal of Medical Genetics. Part A, 164, 1713-1733. https://doi.org/10.1002/ajmg.a.36552
|
[10]
|
Lindhurst, M.J., Parker, V.E.R., Payne, F., et al. (2012) Mosaic Overgrowth with Fibroadipose Hyperplasia Is Caused by Somatic Activating Mutations in PIK3CA. Nature Genetics, 44, 928-933. https://doi.org/10.1038/ng.2332
|
[11]
|
Mathew, L., George, R., Sudhakar, S., et al. (2020) Clinical Profile of Overgrowth Syndromes Consistent with PROS (PIK3CA-Related Overgrowth Syndromes)—A Case Series. Indian Dermatology Online Journal, 11, 738-746. https://doi.org/10.4103/idoj.IDOJ_520_19
|
[12]
|
Yan, W., Zhang, B., Wang, H., et al. (2021) Somatic Frameshift Mutation in PIK3CA Causes CLOVES Syndrome by Provoking PI3K/AKT/mTOR Pathway. Hereditas, 158, Article No. 18. https://doi.org/10.1186/s41065-021-00184-y
|
[13]
|
Wassef, M., Blei, F., Adams, D., et al. (2015) Vascular Anomalies Classification: Recommendations from the International Society for the Study of Vascular Anomalies. Pediatrics, 136, e203-214. https://doi.org/10.1542/peds.2014-3673
|
[14]
|
Waldman, A.R., Garzon, M.C. and Morel, K.D. (2022) Epidermal Nevi: What Is New. Dermatologic Clinics, 40, 61-71. https://doi.org/10.1016/j.det.2021.09.006
|
[15]
|
Acosta, S., Torres, V., Paulos, M., et al. (2017) CLOVES Syndrome: Severe Neonatal Presentation. Journal of Clinical and Diagnostic Research, 11, TR01-TR03. https://doi.org/10.7860/JCDR/2017/23801.9719
|
[16]
|
Mahajan, V.K., Gupta, M., Chauhan, P., et al. (2019) Cloves Syndrome: A Rare Disorder of Overgrowth with Unusual Features—An Uncommon Phenotype? Indian Dermatology Online Journal, 10, 447-452. https://doi.org/10.4103/idoj.IDOJ_418_18
|
[17]
|
St-Pierre, J., Mirakhur, A. and Forbes, N. (2023) Gastrointestinal Manifestations of CLOVES Syndrome. ACG Case Reports Journal, 10, e01050. https://doi.org/10.14309/crj.0000000000001050
|
[18]
|
张静, 朱静, 冷洁, 等. PIK3CA相关过度生长谱研究新进展[J]. 重庆医科大学学报, 2023, 48(5): 512-515.
|
[19]
|
Kinross, K.M., Montgomery, K.G., Mangiafico, S.P., et al. (2015) Ubiquitous Expression of the Pik3ca H1047R Mutation Promotes Hypoglycemia, Hypoinsulinemia, and Organomegaly. The FASEB Journal, 29, 1426-1434. https://doi.org/10.1096/fj.14-262782
|
[20]
|
Vahidnezhad, H., Youssefian, L. and Uitto, J. (2016) Klippel-Trenaunay Syndrome Belongs to the PIK3CA-Related Overgrowth Spectrum (PROS). Experimental Dermatology, 25, 17-19. https://doi.org/10.1111/exd.12826
|
[21]
|
Brouillard, P., Schlögel, M.J., Homayun Sepehr, N., et al. (2021) Non-Hotspot PIK3CA Mutations Are More Frequent in CLOVES than in Common or Combined Lymphatic Malformations. Orphanet Journal of Rare Diseases, 16, Article No. 267. https://doi.org/10.1186/s13023-021-01898-y
|
[22]
|
Mirzaa, G., Parry, D.A., Fry, A.E., et al. (2014) De novo CCND2 Mutations Leading to Stabilization of Cyclin D2 Cause Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome. Nature Genetics, 46, 510-515. https://doi.org/10.1038/ng.2948
|
[23]
|
Michel, M.E., Konczyk, D.J., Yeung, K.S., et al. (2018) Causal Somatic Mutations in Urine DNA from Persons with the CLOVES Subgroup of the PIK3CA-Related Overgrowth Spectrum. Clinical Genetics, 93, 1075-1080. https://doi.org/10.1111/cge.13195
|
[24]
|
Chang, F., Liu, L., Fang, E., et al. (2017) Molecular Diagnosis of Mosaic Overgrowth Syndromes Using a Custom-Designed Next-Generation Sequencing Panel. The Journal of Molecular Diagnostics, 19, 613-624. https://doi.org/10.1016/j.jmoldx.2017.04.006
|
[25]
|
Rehder, C., Bean, L.J.H., Bick, D., et al. (2021) Next-Generation Sequencing for Constitutional Variants in the Clinical Laboratory, 2021 Revision: A Technical Standard of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine, 23, 1399-1415. https://doi.org/10.1038/s41436-021-01139-4
|
[26]
|
Martinez-Lopez, A., Blasco-Morente, G., Perez-Lopez, I., et al. (2017) CLOVES Syndrome: Review of a PIK3CA-Related Overgrowth Spectrum (PROS). Clinical Genetics, 91, 14-21. https://doi.org/10.1111/cge.12832
|
[27]
|
Accogli, A., Geraldo, A.F., Piccolo, G., et al. (2021) Diagnostic Approach to Macrocephaly in Children. Frontiers in Pediatrics, 9, Article 794069. https://doi.org/10.3389/fped.2021.794069
|
[28]
|
Keppler-Noreuil, K.M., Sapp, J.C., Lindhurst, M.J., et al. (2019) Pharmacodynamic Study of Miransertib in Individuals with Proteus Syndrome. American Journal of Human Genetics, 104, 484-491. https://doi.org/10.1016/j.ajhg.2019.01.015
|
[29]
|
Keppler-Noreuil, K.M., Lozier, J.N., Sapp, J.C., et al. (2017) Characterization of Thrombosis in Patients with Proteus Syndrome. American Journal of Medical Genetics. Part A, 173, 2359-2365. https://doi.org/10.1002/ajmg.a.38311
|
[30]
|
Martinez-Lopez, A., Salvador-Rodriguez, L., Montero-Vilchez, T., et al. (2019) Vascular Malformations Syndromes: An Update. Current Opinion in Pediatrics, 31, 747-753. https://doi.org/10.1097/MOP.0000000000000812
|
[31]
|
Pavone, P., Marino, L., Cacciaguerra, G., et al. (2023) Klippel-Trenaunay Syndrome, Segmental/Focal Overgrowth Malformations: A Review. Children (Basel, Switzerland), 10, Article 1421. https://doi.org/10.3390/children10081421
|
[32]
|
Gubala, A., Venkatesh, K., Akhter, M., et al. (2023) High-Output Heart Failure in a Patient with Klippel-Trénaunay Syndrome: A Case Report. Cureus, 15, e38963. https://doi.org/10.7759/cureus.38963
|
[33]
|
Hu, W., Gong, Y., Ma, J., et al. (2023) Fibro-Adipose Vascular Anomaly: Characteristic Imaging Features on Sonography and Magnetic Resonance Imaging. Vascular and Endovascular Surgery, 57, 106-113. https://doi.org/10.1177/15385744221129973
|
[34]
|
Hori, Y., Hirose, K., Aramaki-Hattori, N., et al. (2020) Fibro-Adipose Vascular Anomaly (FAVA): Three Case Reports with an Emphasis on the Mammalian target of Rapamycin (mTOR) Pathway. Diagnostic Pathology, 15, Article No. 98. https://doi.org/10.1186/s13000-020-01004-z
|
[35]
|
Escobar, K., Pandher, K. and Jahnke, M.N. (2022) Capillary Malformations. Dermatologic Clinics, 40, 425-433. https://doi.org/10.1016/j.det.2022.06.005
|
[36]
|
Revencu, N., Boon, L.M., Mulliken, J.B., et al. (2008) Parkes Weber Syndrome, Vein of Galen Aneurysmal Malformation, and Other Fast-Flow Vascular Anomalies Are Caused by RASA1 Mutations. Human Mutation, 29, 959-965. https://doi.org/10.1002/humu.20746
|
[37]
|
He, B., Sun, M.-S., Liu, J.-W., et al. (2023) Major Limb Amputation in Parkes-Weber Syndrome with Refractory Ulceration: A Case Report and Literature Review. The International Journal of Lower Extremity Wounds, 22, 168-173. https://doi.org/10.1177/1534734620986683
|
[38]
|
Bichsel, C. and Bischoff, J. (2019) A Somatic Missense Mutation in GNAQ Causes Capillary Malformation. Current Opinion in Hematology, 26, 179-184. https://doi.org/10.1097/MOH.0000000000000500
|
[39]
|
Shirley, M.D., Tang, H., Gallione, C.J., et al. (2013) Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ. The New England Journal of Medicine, 368, 1971-1979. https://doi.org/10.1056/NEJMoa1213507
|
[40]
|
Fjær, R., Marciniak, K., Sundnes, O., et al. (2021) A Novel Somatic Mutation in GNB2 Provides New Insights to the Pathogenesis of Sturge-Weber Syndrome. Human Molecular Genetics, 30, 1919-1931. https://doi.org/10.1093/hmg/ddab144
|
[41]
|
Thorpe, J., Frelin, L.P., McCann, M., et al. (2021) Identification of a Mosaic Activating Mutation in GNA11 in Atypical Sturge-Weber Syndrome. The Journal of Investigative Dermatology, 141, 685-688. https://doi.org/10.1016/j.jid.2020.03.978
|
[42]
|
Gill, R.E., Tang, B., Smegal, L., et al. (2021) Quantitative EEG Improves Prediction of Sturge-Weber Syndrome in Infants with Port-Wine Birthmark. Clinical Neurophysiology, 132, 2440-2446. https://doi.org/10.1016/j.clinph.2021.06.030
|
[43]
|
Yeom, S. and Comi, A.M. (2022) Updates on Sturge-Weber Syndrome. Stroke, 53, 3769-3779. https://doi.org/10.1161/STROKEAHA.122.038585
|
[44]
|
Öztürk Durmaz, E., Demircioğlu, D., Yalınay Dikmen, P., et al. (2022) A Review on Cutaneous and Musculoskeletal Manifestations of CLOVES Syndrome. Clinical, Cosmetic and Investigational Dermatology, 15, 621-630. https://doi.org/10.2147/CCID.S351637
|
[45]
|
Van Damme, A., Seront, E., Dekeuleneer, V., et al. (2020) New and Emerging Targeted Therapies for Vascular Malformations. American Journal of Clinical Dermatology, 21, 657-668. https://doi.org/10.1007/s40257-020-00528-w
|
[46]
|
Venot, Q., Blanc, T., Rabia, S.H., et al. (2018) Targeted Therapy in Patients with PIK3CA-Related Overgrowth Syndrome. Nature, 558, 540-546. https://doi.org/10.1038/s41586-018-0217-9
|
[47]
|
López Gutiérrez, J.C., Lizarraga, R., Delgado, C., et al. (2019) 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. Journal of Pediatric and Adolescent Gynecology, 32, 648-650. https://doi.org/10.1016/j.jpag.2019.07.003
|
[48]
|
Garreta Fontelles, G., Pardo Pastor, J. and Grande Moreillo, C. (2022) Alpelisib to Treat CLOVES Syndrome, a Member of the PIK3CA-Related Overgrowth Syndrome Spectrum. British Journal of Clinical Pharmacology, 88, 3891-3895. https://doi.org/10.1111/bcp.15270
|
[49]
|
Forde, K., Resta, N., Ranieri, C., et al. (2021) Clinical Experience with the AKT1 Inhibitor Miransertib in Two Children with PIK3CA-Related Overgrowth Syndrome. Orphanet Journal of Rare Diseases, 16, Article No. 109. https://doi.org/10.1186/s13023-021-01745-0
|