CAPILLARY MALFORMATION - ARTERIOVENEOUS MALFORMATION SYNDROOM (RASA1-MUTATIE) |
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Klinische manifestaties: | RASA1-CM-AVM 1: | EPHB4-CM-AVM 2: |
---|---|---|
Capillaire malformaties | 97% | 100% |
Arterioveneuze malformaties of arterioveneuze fistels |
24% 13% extra-CNS 10% intra-CNS |
18% vooral AVM, vooral extracraniaal 1% aneurysma vena van Galenus |
Parkes Weber syndroom | 8% | 8% |
Bier spots | Niet beschreven | 12% |
Telangiëctasiën (bovenlichaam, lippen, armen, benen) |
Niet beschreven | 80% |
Bloedneuzen | Niet beschreven | 60% |
Differentiële diagnose: | Gen: | Overeenkomsten: | Verschillen: |
---|---|---|---|
Hereditary hemorrhagic telangiectasia | ACVRL ENG GDF2 SMAD4 |
multipele AVMs, maar directe verbindingen tussen arteriën en venen | - vaker bloedneuzen - telangiëctasiën op lippen, neus, handen - gastrointestinale bloedingen bij 25% op latere leeftijd - meestal geen grote capillaire malformaties |
Sturge-Weber syndroom | GNAQ | intracraniële vaatafwijkingen | - segmentale naevus flammeus, insulten, glaucoma |
Klippel-Trenaunay-Weber syndroom | PIK3CA | capillaire malformaties, hypertrofie van botten en weke delen | - low flow vascular malformations |
PTEN hamartoma tumor syndromes | PTEN | hypertrofie en fast-flow vaatmalformaties | - meestal intramusculaire vaatafwijkingen - vetdeposities, verstoring weefsel architectuur - ontstaan van tumoren |
Multiple cutaneous and mucosal venous malformations | TEK | kan lijken op capillaire malformaties | - multipele kleine blauwe cutans of mucosale veneuze
malformaties - aanwezig vanaf de geboorte, kan uitbreiden - meestal asymptomatisch - soms in spieren (pijnklachten) |
Hereditary glomuvenous malformations (GVMs) | GLMN | kan lijken op capillaire malformaties | - pijnijk bij palpatie - niet of gedeeltelijk comprimeerbaar - biopt toont glomus cellen |
1. | Eerola I, Boon LM, Mulliken JB, Burrows PE, Dompmartin A, Watanabe S, Vanwijck R, Vikkula M. Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Am J Hum Genet 2003;73:1240-1249. |
2. | Hershkovitz D, Bercovich D, Sprecher E, Lapidot M. RASA1 mutations may cause hereditary capillary malformations without arteriovenous malformations. Br J Dermatol 2008a;158:1035-1040. |
3. | de Wijn RS, Oduber CE, Breugem CC, Alders M, Hennekam RC, van der Horst CM. Phenotypic variability in a family with capillary malformations caused by a mutation in the RASA1 gene. Eur J Med Genet 2012;55:191-195. |
4. | Revencu N, Boon LM, Mulliken JB, Enjolras O, Cordisco MR, et al. Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flowfast-flow vascular anomalies are caused by RASA1 mutations. Hum Mutat 2008;29:959-965. |
5. | Revencu N, Boon LM, Mendola A, Cordisco MR, Dubois J, et al. RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. Hum Mutat 2013;34(12):1632-1641. PDF |
6. | Durrington HJ, Firth HV, Patient C, Belham M, Jayne D, Burrows N, Morrell NW, Chilvers ER. A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM) presenting during pregnancy. Am J Med Genet A 2013;161A:1690-1694. |
7. | Orme CM, Boyden LM, Choate KA, Antaya RJ, King BA. Capillary malformation - arteriovenous malformation syndrome: review of the literature, proposed diagnostic criteria, and recommendations for management. Pediatr Dermatol 2013;30:409-415. |
8. | Amyere M, Revencu N, Helaers R, Pairet E, Baselga E, et al. Germline loss-of-function mutations in EPHB4 cause a second form of capillary malformation-arteriovenous malformation (CM-AVM2) deregulating RAS-MAPK signaling. Circulation 2017;136:1037-1048. |
9. | Maruani A, Durieux-Verde M, Mazereeuw-Hautier J, Boccara O, Martin L, et al. Search for RASA1 Variants in Capillary Malformations of the Legs in 113 Children: Results from the French National Paediatric Cohort CONAPE. Acta Derm Venereol 2018;98(2):251-255. PDF |
10. | Bayrak-Toydemir P, Stevenson D. Capillary Malformation-Arteriovenous Malformation Syndrome. 2011 Feb 22 [Updated 2019 Sep 12]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. PDF |
11. | Iznardo H, Roë E, Puig L, Vikula M, López-Sánchez C, Baselga E. Good response to pulsed dye laser in patients with capillary malformation-arteriovenous malformationsyndrome (CM-AVM). Pediatr Dermatol 2020;37(2):342-344. PDF |
12. | Brouillard P, Boon LM, Mulliken JB, Enjolras O, Ghassibe M, Warman ML, Tan OT, Olsen BR, Vikkula M. Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ('glomangiomas'). Am J Hum Genet 2002;70:866-774. |
07-02-2022 (JRM) - www.huidziekten.nl |
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ICD10 | Q27.3 | Congenitale perifere arterioveneuze misvorming: capillary malformation-arteriovenous malformation syndrome |
ICD10 | Q27.3 | Congenital peripheral arteriovenous malformation: capillary malformation-arteriovenous malformation syndrome |
SNOMED | 703533007 | Capillary malformation-arteriovenous malformation syndrome |
DBC | 25 | Vasculaire dermatosen |