{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T07:50:11Z","timestamp":1787212211069,"version":"build-2736575974"},"reference-count":25,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2023,9,28]],"date-time":"2023-09-28T00:00:00Z","timestamp":1695859200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Capillary malformation\u2010arteriovenous malformation (CM\u2010AVM) is characterized by multifocal fast\u2010flow capillary malformations, sometimes with arteriovenous malformations\/fistulas, skeletal\/soft tissue overgrowth, telangiectasias, or Bier spots. Lymphatic abnormalities are infrequently reported. We describe seven patients with CM\u2010AVM and lymphatic anomalies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Following IRB approval, we identified patients with CM\u2010AVM and lymphatic anomalies seen at the Vascular Anomalies Center at Boston Children's Hospital from 2003 to 2023. We retrospectively reviewed records for clinical, genetic, laboratory, and imaging findings.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We found seven patients with CM\u2010AVM and lymphatic abnormalities. Five patients were diagnosed prenatally: four with pleural effusions (including one suspected chylothorax) and one with ascites. Pleural effusions resolved after neonatal drainage in three patients and fetal thoracentesis in the fourth; however, fluid rapidly reaccumulated in this fetus causing hydrops. Ascites resolved after neonatal paracentesis, recurred at 2\u2009months, and spontaneously resolved at 5\u2009years; magnetic resonance lymphangiography for recurrence at age 19\u2009years suggested a central conducting lymphatic anomaly (CCLA), and at age 20\u2009years a right spermatic cord\/scrotal lymphatic malformation (LM) was detected. Chylous pericardial effusion presented in a sixth patient at 2\u2009months and disappeared after pericardiocentesis. A seventh patient was diagnosed with a left lower extremity LM at 16\u2009months.<\/jats:p><jats:p>Six patients underwent genetic testing, and all had <jats:italic>RASA1<\/jats:italic> mutation. <jats:italic>RASA1<\/jats:italic> variant was novel in three patients (c.1495delinsCTACC, c.434_451delinsA, c.2648del), previously reported in two (c.2603+1G&gt;A, c.475_476del), and unavailable in another. Median follow\u2010up age was 5.8\u2009years (4\u2009months\u201320\u2009years).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>CM\u2010AVM may be associated with lymphatic anomalies, including pericardial\/pleural effusions, ascites, CCLA, and LM.<\/jats:p><\/jats:sec>","DOI":"10.1111\/pde.15443","type":"journal-article","created":{"date-parts":[[2023,9,28]],"date-time":"2023-09-28T09:54:36Z","timestamp":1695894876000},"page":"1028-1034","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Spectrum of lymphatic anomalies in patients with <i>RASA1<\/i>\u2010related CM\u2010AVM"],"prefix":"10.1111","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-1329-8773","authenticated-orcid":false,"given":"Mia A.","family":"Mologousis","sequence":"first","affiliation":[{"name":"Tufts University School of Medicine  Boston Massachusetts USA"},{"name":"Department of Dermatology Boston Children's Hospital  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire A.","family":"Ostertag\u2010Hill","sequence":"additional","affiliation":[{"name":"Department of Surgery Boston Children's Hospital  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8068-9255","authenticated-orcid":false,"given":"Hilary","family":"Haimes","sequence":"additional","affiliation":[{"name":"Department of Dermatology Boston Children's Hospital  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven J.","family":"Fishman","sequence":"additional","affiliation":[{"name":"Department of Surgery Boston Children's Hospital  Boston Massachusetts USA"},{"name":"Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John B.","family":"Mulliken","sequence":"additional","affiliation":[{"name":"Harvard Medical School  Boston Massachusetts USA"},{"name":"Department of Plastic and Oral Surgery Boston Children's Hospital  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marilyn G.","family":"Liang","sequence":"additional","affiliation":[{"name":"Department of Dermatology Boston Children's Hospital  Boston Massachusetts USA"},{"name":"Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,9,28]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/379793"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2005.03.004"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20746"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes14030549"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61779"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2012.01.009"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2020\u2010011601"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62416"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23935"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37613"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5862"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1172\/jci85794"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/ced.13898"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37203"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0140\u20106736(18)32042\u20107"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22431"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6345"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.24911"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/ehjcr\/ytab451"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41591\u2010019\u20100479\u20102"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1222722110"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1186\/2045\u2010824x\u20104\u201019"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddy218"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1172\/jci124917"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1172\/jci89607"}],"container-title":["Pediatric 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