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Page 1
The RASopathies.
Rauen KA. Rauen KA. Annu Rev Genomics Hum Genet. 2013;14:355-69. doi: 10.1146/annurev-genom-091212-153523. Epub 2013 Jul 15. Annu Rev Genomics Hum Genet. 2013. PMID: 23875798 Free PMC article. Review.
These disorders include neurofibromatosis type 1, Noonan syndrome, Noonan syndrome with multiple lentigines, capillary malformation-arteriovenous malformation syndrome, Costello syndrome, cardio-facio-cutaneous syndrome, and Legius syndrome. ...
These disorders include neurofibromatosis type 1, Noonan syndrome, Noonan syndrome with multiple lentigines, capillary malformation- …
Cutaneous leiomyosarcoma mimicking arteriovenous malformation.
Litaiem N, Tabka M, Nefiss M, Slouma M, Ben Slama S, Zeglaoui F. Litaiem N, et al. Clin Case Rep. 2020 Aug 6;8(12):2538-2540. doi: 10.1002/ccr3.3222. eCollection 2020 Dec. Clin Case Rep. 2020. PMID: 33363774 Free PMC article.
There is a clinical overlap between hypervascularized sarcomas and arteriovenous malformations (AVM). MRI imaging should be interpreted with caution keeping in mind that some cancers could mimic AVM. ...
There is a clinical overlap between hypervascularized sarcomas and arteriovenous malformations (AVM). MRI imaging should be in …
Capillary Malformation-Arteriovenous Malformation Syndrome.
Bayrak-Toydemir P, Stevenson DA. Bayrak-Toydemir P, et al. 2011 Feb 22 [updated 2019 Sep 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2011 Feb 22 [updated 2019 Sep 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 21348050 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is characterized by the presence of multiple small (1-2 cm in diameter) capillary malformations mostly localized on the face and limbs. Some affected individu …
CLINICAL CHARACTERISTICS: Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is characterized by the p …
Histopathological hallmarks of cutaneous lesions of capillary malformation-arteriovenous malformation syndrome.
Valdivielso-Ramos M, Torrelo A, Martin-Santiago A, Hernández-Nuñez A, Azaña JM, Campos M, Berenguer B, Garnacho G, Moreno R, Colmenero I. Valdivielso-Ramos M, et al. J Eur Acad Dermatol Venereol. 2020 Oct;34(10):2428-2435. doi: 10.1111/jdv.16326. Epub 2020 May 19. J Eur Acad Dermatol Venereol. 2020. PMID: 32124491
IMPORTANCE: Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is a recently described syndrome with distinctive cutaneous lesions. ...Our results suggest that histologically and immunohistochemically they are closer to incipient ar …
IMPORTANCE: Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is a recently described syndrome with d …
Klippel-Trenaunay Syndrome.
John PR. John PR. Tech Vasc Interv Radiol. 2019 Dec;22(4):100634. doi: 10.1016/j.tvir.2019.100634. Epub 2019 Sep 23. Tech Vasc Interv Radiol. 2019. PMID: 31864529 Review.
Patients are diagnosed on the basis of physical findings, sometimes with supportive imaging, of commonly a segmental anomaly with a cutaneous port-wine stain, lymphatic and venous malformations and overgrowth. The severity of the component vascular malformations …
Patients are diagnosed on the basis of physical findings, sometimes with supportive imaging, of commonly a segmental anomaly with a cutan …
RASopathies for Radiologists.
Handa A, Tsujioka Y, Nishimura G, Nozaki T, Kono T, Jinzaki M, Harms T, Connolly SA, Sato TS, Sato Y. Handa A, et al. Radiographics. 2024 May;44(5):e230153. doi: 10.1148/rg.230153. Radiographics. 2024. PMID: 38602868
RASopathies include neurofibromatosis type 1, Legius syndrome, Noonan syndrome, Costello syndrome, cardiofaciocutaneous syndrome, central conducting lymphatic anomaly, and capillary malformation-arteriovenous malformation syndrome. These disorders are grouped …
RASopathies include neurofibromatosis type 1, Legius syndrome, Noonan syndrome, Costello syndrome, cardiofaciocutaneous syndrome, central co …
RASopathies: Dermatologists' viewpoints.
Palit A, Inamadar AC. Palit A, et al. Indian J Dermatol Venereol Leprol. 2022 May-Jun;88(4):452-463. doi: 10.25259/IJDVL_799_20. Indian J Dermatol Venereol Leprol. 2022. PMID: 35138057 Free article. Review.
Neurofibromatosis type 1, Noonan syndrome, Noonan syndrome with multiple lentigines, Noonan syndrome/loose anagen hair, Legius syndrome, Costello syndrome, cardio-facio-cutaneous syndrome and capillary malformation-arteriovenous malformation are the we …
Neurofibromatosis type 1, Noonan syndrome, Noonan syndrome with multiple lentigines, Noonan syndrome/loose anagen hair, Legius syndrome, Cos …
Capillary Malformation-arteriovenous Malformation Type 2: A Case Report and Review.
Brix ATH, Tørring PM, Bygum A. Brix ATH, et al. Acta Derm Venereol. 2022 Mar 8;102:adv00662. doi: 10.2340/actadv.v102.1126. Acta Derm Venereol. 2022. PMID: 35088870 Free PMC article. Review.
Capillary malformation-arteriovenous malformation syndrome is a rare genodermatosis with cutaneous capillary malformations and a risk of associated fast-flow malformations. ...The clinical characteristics of capillary malformation- …
Capillary malformation-arteriovenous malformation syndrome is a rare genodermatosis with cutaneous capillary …
[Hereditary hemorrhagic telangiectasia].
Parrot A, Barral M, Amiot X, Bachmeyer C, Wagner I, Eyries M, Alamowitch S, Ederhy S, Epaud R, Dupuis-Girod S, Cadranel J. Parrot A, et al. Rev Mal Respir. 2023 May;40(5):391-405. doi: 10.1016/j.rmr.2023.02.007. Epub 2023 Apr 14. Rev Mal Respir. 2023. PMID: 37062633 Review. French.
The condition is characterized by muco-cutaneous telangiectasias, which are responsible for a hemorrhagic syndrome of variable severity, as well as arteriovenous malformations (AVMs) appearing in the lungs, the liver, and the nervous system. ...
The condition is characterized by muco-cutaneous telangiectasias, which are responsible for a hemorrhagic syndrome of variable severi …
Klippel-Trenaunay-Weber Syndrome.
Naganathan S, Tadi P. Naganathan S, et al. 2023 Apr 14. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–. 2023 Apr 14. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–. PMID: 32644415 Free Books & Documents.
Klippel Trenaunay syndrome (KTS) is a vascular malformation syndrome comprising varying involvement of cutaneous capillaries, veins, and lymphatics with hypertrophy of soft tissue and bones of the affected limb. ...KTS is a clinical diagnosis made by the presence of …
Klippel Trenaunay syndrome (KTS) is a vascular malformation syndrome comprising varying involvement of cutaneous capillaries, …
403 results