{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,29]],"date-time":"2026-08-29T00:50:17Z","timestamp":1787964617327,"version":"build-2784847793"},"reference-count":10,"publisher":"BMJ","issue":"5","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,5,4]]},"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:p>Cutis marmorata telangiectatica congenita is a rare congenital vascular malformation characterised by cutaneous vascular abnormalities, typically diagnosed at birth or in the early postnatal period. Although typically benign, this disease is associated with other systemic abnormalities, including rare ocular alterations, such as congenital glaucoma, cataracts and retinopathy.<\/jats:p>\n               <jats:p>This manuscript describes a female infant, who presented with generalised livedo reticularis, a band of alopecia and cutaneous atrophy in the temporal region above the coronal suture. The patient was diagnosed with cutis marmorata telangiectatica congenita by a paediatrician, and an ophthalmological evaluation was requested. A funduscopy examination in both eyes showed temporal and superior retina with avascular areas with new vessels, venous dilations and shunts, and no retinal detachments. Given these findings, we performed retinal photocoagulation laser treatment with excellent results.<\/jats:p>\n               <jats:p>This case report highlights the importance of early ophthalmological evaluation of children with this disease to prevent secondary complications, such as vitreous haemorrhage and tractional retinal detachment.<\/jats:p>","DOI":"10.1136\/bcr-2023-257810","type":"journal-article","created":{"date-parts":[[2024,5,8]],"date-time":"2024-05-08T12:55:24Z","timestamp":1715172924000},"page":"e257810","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Retinal abnormalities in a patient with cutis marmorata telangiectatica congenita"],"prefix":"10.1136","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2897-6833","authenticated-orcid":false,"given":"Kenzo","family":"Hokazono","sequence":"first","affiliation":[{"name":"Ophthalmology, Federal University of Parana, Curitiba, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana B\u00e1rbara Dias Lopes","family":"Urzedo","sequence":"additional","affiliation":[{"name":"Ophthalmology, Federal University of Parana, Curitiba, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula Basso","family":"Dias","sequence":"additional","affiliation":[{"name":"Ophthalmology, Federal University of Parana, Curitiba, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nat\u00e1lia Assump\u00e7\u00e3o Lima","family":"Dias","sequence":"additional","affiliation":[{"name":"Ophthalmology, Federal University of Parana, Curitiba, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2024,5,8]]},"reference":[{"key":"2025082703200293000_17.5.e257810.1","unstructured":"Van lohuizen CHJ . \u00dcber Eine Seltene Angeborne Hautanomalie (Cutis Marmorata Telengiectatica Congenita). Acta Derm Venereol 1922;3."},{"key":"2025082703200293000_17.5.e257810.2","doi-asserted-by":"crossref","unstructured":"Bui T , Corap A , Bygum A . Cutis Marmorata Telangiectatica Congenita: a literature review. Orphanet J Rare Dis 2019;14. doi:10.1186\/s13023-019-1229-8","DOI":"10.1186\/s13023-019-1229-8"},{"key":"2025082703200293000_17.5.e257810.3","doi-asserted-by":"publisher","DOI":"10.1016\/j.survophthal.2018.04.002"},{"key":"2025082703200293000_17.5.e257810.4","doi-asserted-by":"crossref","first-page":"683","DOI":"10.1007\/s00347-010-2201-0","article-title":"Famili\u00e4re Exsudative Vitreoretinopathie","volume":"107","author":"Finis","year":"2010","journal-title":"Ophthalmologe"},{"key":"2025082703200293000_17.5.e257810.5","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1097\/ICU.0000000000000863","article-title":"Incontinentia Pigmenti and the eye","volume":"33","author":"Islam","year":"2022","journal-title":"Curr Opin Ophthalmol"},{"key":"2025082703200293000_17.5.e257810.6","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2230.2008.03074.x"},{"key":"2025082703200293000_17.5.e257810.7","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1080\/13816810.2020.1744018","article-title":"Cutis Marmorata Telangiectatica Congenita: a focus on its diagnosis, ophthalmic anomalies, and possible Etiologic factors","volume":"41","author":"Elitt","year":"2020","journal-title":"Ophthalmic Genet"},{"key":"2025082703200293000_17.5.e257810.8","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1097\/ICB.0000000000000736","article-title":"Retinal neovascularization from a patient with Cutis Marmorata Telangiectatica Congenita","volume":"15","author":"Sassalos","year":"2021","journal-title":"RETINAL Cases & Brief Reports"},{"key":"2025082703200293000_17.5.e257810.9","doi-asserted-by":"crossref","first-page":"966","DOI":"10.1002\/ajmg.a.61134","article-title":"Extracutaneous manifestations in Phacomatosis Cesioflammea and Cesiomarmorata: case series and literature review","volume":"179","author":"Kumar","year":"2019","journal-title":"Am J Med Genet A"},{"key":"2025082703200293000_17.5.e257810.10","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0560.1974.tb00188.x"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2023-257810","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T10:20:14Z","timestamp":1756290014000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2023-257810"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5]]},"references-count":10,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2024,5,8]]},"published-print":{"date-parts":[[2024,5]]}},"alternative-id":["10.1136\/bcr-2023-257810"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2023-257810","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,5]]}}}