{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T02:27:46Z","timestamp":1793672866937,"version":"4.5.1"},"reference-count":12,"publisher":"Springer Science and Business Media LLC","issue":"10","license":[{"start":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T00:00:00Z","timestamp":1788480000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T00:00:00Z","timestamp":1788480000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Universit\u00e0 degli Studi di Parma","id":[{"id":"https:\/\/ror.org\/02k7wn190","id-type":"ROR","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurol Sci"],"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>PHACE syndrome is a rare neurocutaneous disorder defined by the association of large segmental infantile hemangiomas of the head and neck with malformations of the posterior fossa, cerebral and cervical arteries, heart, eyes, and ventral midline structures. Although facial hemangiomas are often the presenting feature, the cerebrovascular, neurodevelopmental, and airway manifestations are responsible for the greatest long-term morbidity.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A systematic literature review was conducted following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, searching PubMed, Web of Science, EMBASE, and PsycINFO. After removal of duplicates and screening of 308 records, five studies meeting the inclusion criteria were retained for qualitative synthesis. We additionally present the case of a now 12-year-old girl with PHACE syndrome characterized by a left V1-distribution facial hemangioma, ocular abnormalities, multiple cerebrovascular venous and arterial malformations, neonatal intraventricular hemorrhage with hydrocephalus, and a subsequently diagnosed dural arteriovenous fistula requiring repeated embolization.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The five included studies collectively describe epidemiology and early supportive care needs, long-term health outcomes and quality of life into adulthood, airway hemangioma prevalence and management, and the clinical spectrum of infantile hemangiomas with minimal or arrested growth (IH-MAG) as a cutaneous marker of PHACE syndrome. Across studies, cerebrovascular arteriopathy (72\u201391%) and facial hemangioma residua (&gt;\u200990%) were the most consistent findings, while progressive arteriopathy, headaches, learning differences, and airway involvement emerged as the principal sources of long-term morbidity. The reported case illustrates an unusually severe cerebrovascular phenotype, including neonatal hemorrhagic hydrocephalus, dural venous sinus thrombosis, and a late dural arteriovenous fistula, culminating in ataxic cerebral palsy and mild intellectual disability.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>PHACE syndrome requires a multidisciplinary, lifelong follow-up strategy. The presented case underscores that cerebrovascular complications may evolve over years to decades after the initial diagnosis, reinforcing the need for long-term neuroradiological surveillance even after apparent clinical stability.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s10072-026-09372-y","type":"journal-article","created":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T04:22:38Z","timestamp":1788495758000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["PHACE syndrome: a systematic literature review and illustrative case report of a patient with severe cerebrovascular and neurodevelopmental sequelae"],"prefix":"10.1007","volume":"47","author":[{"given":"Martina","family":"Gnazzo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Caiazza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caterina","family":"Sirocchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Beccani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Faccioli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Pandarese","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorena","family":"Menta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Gambretti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benedetta","family":"Piccolo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emanuela","family":"Turco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Incerti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6777-1721","authenticated-orcid":false,"given":"Maria Carmela","family":"Pera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,9,4]]},"reference":[{"issue":"3","key":"9372_CR1","doi-asserted-by":"publisher","first-page":"307","DOI":"10.1001\/archderm.1996.03890270083012","volume":"132","author":"IJ Frieden","year":"1996","unstructured":"Frieden IJ, Reese V, Cohen D (1996) PHACE syndrome. The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. Arch Dermatol 132(3):307\u2013311","journal-title":"Arch Dermatol"},{"key":"9372_CR2","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1016\/j.jpeds.2016.07.054","volume":"178","author":"MC Garzon","year":"2016","unstructured":"Garzon MC, Epstein LG, Heyer GL et al (2016) PHACE Syndrome: Consensus-Derived Diagnosis and Care Recommendations. J Pediatr 178:24-33.e2","journal-title":"J Pediatr"},{"issue":"5","key":"9372_CR3","doi-asserted-by":"publisher","first-page":"383","DOI":"10.1159\/000508187","volume":"54","author":"SC Disse","year":"2020","unstructured":"Disse SC, Toelle SP, Schroeder S et al (2020) Epidemiology, clinical features, and use of early supportive measures in PHACE syndrome: a European multinational observational study. Neuroepidemiology 54(5):383\u2013391","journal-title":"Neuroepidemiology"},{"key":"9372_CR4","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2024.113907","volume":"267","author":"M Braun","year":"2024","unstructured":"Braun M, Frieden IJ, Siegel DH et al (2024) Multicenter Study of Long-Term Outcomes and Quality of Life in PHACE Syndrome after Age 10. J Pediatr 267:113907","journal-title":"J Pediatr"},{"issue":"1","key":"9372_CR5","doi-asserted-by":"publisher","first-page":"182","DOI":"10.1177\/0194599820966622","volume":"165","author":"JA Czechowicz","year":"2021","unstructured":"Czechowicz JA, Benjamin T, Bly RA et al (2021) Airway hemangiomas in PHACE syndrome: a multicenter experience. Otolaryngol Head Neck Surg 165(1):182\u2013186","journal-title":"Otolaryngol Head Neck Surg"},{"issue":"5","key":"9372_CR6","doi-asserted-by":"publisher","first-page":"622","DOI":"10.1111\/pde.13597","volume":"35","author":"M Valdivielso-Ramos","year":"2018","unstructured":"Valdivielso-Ramos M, Torrelo A, Martin-Santiago A et al (2018) Infantile hemangioma with minimal or arrested growth as the skin manifestation of PHACE syndrome. Pediatr Dermatol 35(5):622\u2013627","journal-title":"Pediatr Dermatol"},{"issue":"1","key":"9372_CR7","doi-asserted-by":"publisher","first-page":"64","DOI":"10.1111\/pde.13022","volume":"34","author":"EH Ma","year":"2017","unstructured":"Ma EH, Robertson SJ, Chow CW, Bekhor PS (2017) Infantile hemangioma with minimal or arrested growth: further observations on clinical and histopathologic findings of this unique but underrecognized entity. 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BMJ 372:n71","journal-title":"BMJ"}],"container-title":["Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-026-09372-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10072-026-09372-y","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-026-09372-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T02:02:05Z","timestamp":1793671325000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10072-026-09372-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9,4]]},"references-count":12,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2026,10]]}},"alternative-id":["9372"],"URL":"https:\/\/doi.org\/10.1007\/s10072-026-09372-y","relation":{},"ISSN":["1590-1874","1590-3478"],"issn-type":[{"value":"1590-1874","type":"print"},{"value":"1590-3478","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,9,4]]},"assertion":[{"value":"15 July 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 August 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 September 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"This study was conducted in accordance with the Declaration of Helsinki. As this manuscript includes a systematic literature review (based on previously published, de-identified data) and a single case report, formal Institutional Review Board\/Ethics Committee approval was not required for the case report component, in accordance with institutional policy for single-patient case reports. Written informed consent for publication of this case report, including all clinical data and photographic material, was obtained from the patient''s parent\/legal guardian. All identifying features have been removed or obscured from the images to protect patient privacy.","order":1,"name":"Ethics","label":"Ethics approval and consent to participate","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no conflict of interest.","order":2,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Declarations"}}],"article-number":"755"}}