{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T22:37:38Z","timestamp":1790807858392,"version":"4.1.0"},"reference-count":22,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,7,1]],"date-time":"2020-07-01T00:00:00Z","timestamp":1593561600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"NCI Cancer Center","award":["P30 CA08748"],"award-info":[{"award-number":["P30 CA08748"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Diffuse capillary malformation with overgrowth (DCMO) has been well described. However, capillary malformation with undergrowth (CMU) has been less reported in the literature.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>We sought to describe the clinical features and determine associated somatic mutations in patients with CMU.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We searched our multidisciplinary vascular anomalies clinic database for patients with CMU. Girth and length limb measurements were performed. In case of discrepancies in length, long leg radiograph studies were obtained. Whole\u2010exome sequencing of blood and involved tissue DNA was carried out.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We included six patients with CM and soft\u2010tissue and bone undergrowth. CMs were patchy, reticulated, segmental, poorly demarcated, pink\u2010red stains affecting the lower limb (five patients) or the whole hemibody (one patient). In five patients, the stain was diffuse, affecting more than one anatomic region. Prominent superficial veins were observed in three patients. Five patients presented with lower limb girth discrepancy; in three of them, there was also lower limb length discrepancy. In the remaining patient, only lower limb length discrepancy was found.\u00a0Whole\u2010exome sequencing from DNA tissue\/blood detected previously described pathogenic somatic mutations on <jats:italic>DDR2<\/jats:italic> (c.314G\u00a0&gt;\u00a0A; p.Arg105His), <jats:italic>GRHL2<\/jats:italic> (c.791A\u00a0&gt;\u00a0G; p.Glu264Gly), and <jats:italic>PIK3CA<\/jats:italic> (c.2740G\u00a0&gt;\u00a0A; p.Gly914Arg) genes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We propose the term \"diffuse\u00a0capillary malformation with undergrowth\" for extensive reticular CMs associated with proportionate\u00a0undergrowth. All our patients had a favorable outcome, and no genotype\u2010phenotype association was found.<\/jats:p><\/jats:sec>","DOI":"10.1111\/pde.14252","type":"journal-article","created":{"date-parts":[[2020,7,1]],"date-time":"2020-07-01T07:10:01Z","timestamp":1593587401000},"page":"833-838","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Clinical and genetic evaluation of six children with diffuse capillary malformation and undergrowth"],"prefix":"10.1111","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9908-546X","authenticated-orcid":false,"given":"Xavier","family":"Cubir\u00f3","sequence":"first","affiliation":[{"name":"Department of Dermatology Hospital de la Santa Creu i Sant Pau Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduardo","family":"Rozas\u2010Mu\u00f1oz","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hospital de la Santa Creu i Sant Pau Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pau","family":"Castel","sequence":"additional","affiliation":[{"name":"Human Oncology and Pathogenesis Program Memorial Sloan Kettering Cancer Center New York NY USA"},{"name":"Helen Diller Family Comprehensive Cancer Center University of California San Francisco San Francisco CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Ro\u00e9 Crespo","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hospital de la Santa Creu i Sant Pau Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Garcia\u2010Melendo","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hospital de la Santa Creu i Sant Pau Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6083-0952","authenticated-orcid":false,"given":"Lluis","family":"Puig","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hospital de la Santa Creu i Sant Pau Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1086-8439","authenticated-orcid":false,"given":"Eulalia","family":"Baselga","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hospital de la Santa Creu i Sant Pau Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,7]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.12939"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.13147"},{"key":"e_1_2_7_4_1","unstructured":"ISSVA Classification of Vascular Anomalies \u00a92018 International Society for the Study of Vascular Anomalies.issva.org\/classification. 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