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19 results

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Page 1
Capillary Malformations.
Escobar K, Pandher K, Jahnke MN. Escobar K, et al. Dermatol Clin. 2022 Oct;40(4):425-433. doi: 10.1016/j.det.2022.06.005. Epub 2022 Sep 16. Dermatol Clin. 2022. PMID: 36243429 Review.
Some genetic disorders discussed, which feature CMs, include Sturge-Weber syndrome, diffuse CMs with overgrowth, Klippel-Trenaunay syndrome, CLOVES syndrome, among others. This article can aid clinicians in better identifying CMs and associated syndromes and provide …
Some genetic disorders discussed, which feature CMs, include Sturge-Weber syndrome, diffuse CMs with overgrowth, Klippel-Trenaunay syndrome, …
PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.
Keppler-Noreuil KM, Rios JJ, Parker VE, Semple RK, Lindhurst MJ, Sapp JC, Alomari A, Ezaki M, Dobyns W, Biesecker LG. Keppler-Noreuil KM, et al. Am J Med Genet A. 2015 Feb;167A(2):287-95. doi: 10.1002/ajmg.a.36836. Epub 2014 Dec 31. Am J Med Genet A. 2015. PMID: 25557259 Free PMC article.
Historically, the clinical diagnoses in patients with PIK3CA activating mutations have included Fibroadipose hyperplasia or Overgrowth (FAO), Hemihyperplasia Multiple Lipomatosis (HHML), Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Scoliosis/Skeletal …
Historically, the clinical diagnoses in patients with PIK3CA activating mutations have included Fibroadipose hyperplasia or Overgrowth (FAO) …
CLOVES syndrome.
Bloom J, Upton J 3rd. Bloom J, et al. J Hand Surg Am. 2013 Dec;38(12):2508-12. doi: 10.1016/j.jhsa.2013.08.120. Epub 2013 Oct 23. J Hand Surg Am. 2013. PMID: 24161472 Review.
Although hand anomalies alone cannot make the diagnosis, the foot, truncal, cutaneous and spinal anomalies are particularly diagnostic. CLOVES syndrome has emerged as a distinct clinical entity diagnosed by clinical and radiographic examinations. ...
Although hand anomalies alone cannot make the diagnosis, the foot, truncal, cutaneous and spinal anomalies are particularly diagnostic. C …
CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS).
Martinez-Lopez A, Blasco-Morente G, Perez-Lopez I, Herrera-Garcia JD, Luque-Valenzuela M, Sanchez-Cano D, Lopez-Gutierrez JC, Ruiz-Villaverde R, Tercedor-Sanchez J. Martinez-Lopez A, et al. Clin Genet. 2017 Jan;91(1):14-21. doi: 10.1111/cge.12832. Epub 2016 Aug 3. Clin Genet. 2017. PMID: 27426476 Review.
Identification of the clinical and genetic characteristics of CLOVES syndrome is crucial for the differential diagnosis with other overgrowth syndromes, such as Proteus or Klippel-Trenaunay (K-T) syndromes, and for the therapeutic management of the different anomali …
Identification of the clinical and genetic characteristics of CLOVES syndrome is crucial for the differential diagnosis with o …
Vascular malformations syndromes: an update.
Martinez-Lopez A, Salvador-Rodriguez L, Montero-Vilchez T, Molina-Leyva A, Tercedor-Sanchez J, Arias-Santiago S. Martinez-Lopez A, et al. Curr Opin Pediatr. 2019 Dec;31(6):747-753. doi: 10.1097/MOP.0000000000000812. Curr Opin Pediatr. 2019. PMID: 31693582 Review.
PIK3CA-related overgrowth spectrum (PROS) is a group of rare genetic disorders with asymmetric overgrowth caused by somatic mosaic mutations in PI3K-AKT-mTOR pathway that encompass a heterogeneous group of rare disorder that are associated with the appearance of overgrowth. CL …
PIK3CA-related overgrowth spectrum (PROS) is a group of rare genetic disorders with asymmetric overgrowth caused by somatic mosaic mutations …
Orthopedic issues in vascular anomalies.
Spencer SA, Sorger JI. Spencer SA, et al. Semin Pediatr Surg. 2020 Oct;29(5):150973. doi: 10.1016/j.sempedsurg.2020.150973. Epub 2020 Sep 19. Semin Pediatr Surg. 2020. PMID: 33069292 Review.
What's New in Genetic Skin Diseases.
Hill CR, Theos A. Hill CR, et al. Dermatol Clin. 2019 Apr;37(2):229-239. doi: 10.1016/j.det.2018.11.004. Dermatol Clin. 2019. PMID: 30850045 Review.
[PIK3CA-related overgrowth syndrome (PROS)].
Venot Q, Canaud G. Venot Q, et al. Nephrol Ther. 2017 Apr;13 Suppl 1:S155-S156. doi: 10.1016/j.nephro.2017.02.004. Nephrol Ther. 2017. PMID: 28577738 Review. French.
This spectrum encompasses overgrowth syndromes associated with somatic mosaic activating PIK3CA mutations such as megalencephaly-capillary malformation (MCAP) syndrome, dysplatic megalencephaly (DMEG), congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary …
This spectrum encompasses overgrowth syndromes associated with somatic mosaic activating PIK3CA mutations such as megalencephaly-capillary m …
Controversy on the management of patients carrying RET p.V804M mutation.
Alzahrani AS, Alswailem M, Alghamdi B, Rafiullah R, Aldawish M, Al-Hindi H. Alzahrani AS, et al. Endocrine. 2022 Feb;75(2):478-486. doi: 10.1007/s12020-021-02895-8. Epub 2021 Oct 12. Endocrine. 2022. PMID: 34637071 Review.
This variant was not found in DNA extracted from blood. This confirmed the diagnosis of CLOVES syndrome (Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi and Scoliosis, skeletal or spinal anomalies). ...
This variant was not found in DNA extracted from blood. This confirmed the diagnosis of CLOVES syndrome (Congenital Lipomatous …
19 results