A prospective study of PHACE syndrome in infantile hemangiomas: Demographic features, clinical findings, and complications
PHACE (OMIM no. 606519) is a neurocutaneous syndrome that refers to the association of large, plaque‐like, “segmental” hemangiomas of the face, with one or more of the following anomalies: posterior fossa brain malformations, arterial cerebrovascular anomalies, cardiovascular anomalies, eye anomalie...
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creator | Metry, D.W. Haggstrom, A.N. Drolet, B.A. Baselga, E. Chamlin, S. Garzon, M. Horii, K. Lucky, A. Mancini, A.J. Newell, B. Nopper, A. Heyer, G. Frieden, I.J. |
description | PHACE (OMIM no. 606519) is a neurocutaneous syndrome that refers to the association of large, plaque‐like, “segmental” hemangiomas of the face, with one or more of the following anomalies: posterior fossa brain malformations, arterial cerebrovascular anomalies, cardiovascular anomalies, eye anomalies, and ventral developmental defects, specifically sternal defects and/or supraumbilical raphe. The etiology and pathogenesis of PHACE is unknown, and potential risk factors for the syndrome have not been systematically studied. The purpose of this study was thus to determine (1) the incidence of PHACE and associated anomalies among a large cohort of hemangioma patients, (2) whether certain demographic, prenatal or perinatal risk factors predispose infants to this syndrome, and (3) whether the cutaneous distribution of the hemangioma can be correlated to the types of anomalies present. We undertook a prospective, cohort study of 1,096 children with hemangiomas, 25 of whom met criteria for PHACE. These 25 patients represented 20% of infants with segmental facial hemangiomas. Compared to previous reports, our PHACE patients had a higher incidence of cerebrovascular and cardiovascular anomalies. Two developed acute arterial ischemic stroke during infancy, while two with cardiovascular anomalies showed documented evidence of normalization, suggesting that both progressive and regressive vascular phenomena may occur in this syndrome. Correlation to the anatomic location of the hemangioma appears to be helpful in determining which structural abnormalities might be present. A comparison of demographic and perinatal data between our PHACE cases and the hemangioma cohort overall showed no major differences, except a trend for PHACE infants to be of slighter higher gestational age and born to slightly older mothers. Eighty‐eight percent were female, a finding which has been noted in multiple other reports. Further research is needed to determine possible etiologies, optimal evaluation, and outcomes. © 2006 Wiley‐Liss, Inc. |
doi_str_mv | 10.1002/ajmg.a.31189 |
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The etiology and pathogenesis of PHACE is unknown, and potential risk factors for the syndrome have not been systematically studied. The purpose of this study was thus to determine (1) the incidence of PHACE and associated anomalies among a large cohort of hemangioma patients, (2) whether certain demographic, prenatal or perinatal risk factors predispose infants to this syndrome, and (3) whether the cutaneous distribution of the hemangioma can be correlated to the types of anomalies present. We undertook a prospective, cohort study of 1,096 children with hemangiomas, 25 of whom met criteria for PHACE. These 25 patients represented 20% of infants with segmental facial hemangiomas. Compared to previous reports, our PHACE patients had a higher incidence of cerebrovascular and cardiovascular anomalies. Two developed acute arterial ischemic stroke during infancy, while two with cardiovascular anomalies showed documented evidence of normalization, suggesting that both progressive and regressive vascular phenomena may occur in this syndrome. Correlation to the anatomic location of the hemangioma appears to be helpful in determining which structural abnormalities might be present. A comparison of demographic and perinatal data between our PHACE cases and the hemangioma cohort overall showed no major differences, except a trend for PHACE infants to be of slighter higher gestational age and born to slightly older mothers. Eighty‐eight percent were female, a finding which has been noted in multiple other reports. Further research is needed to determine possible etiologies, optimal evaluation, and outcomes. © 2006 Wiley‐Liss, Inc.</description><identifier>ISSN: 1552-4825</identifier><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.31189</identifier><identifier>PMID: 16575892</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Abnormalities, Multiple - diagnosis ; Abnormalities, Multiple - pathology ; Airway Obstruction - complications ; Biological and medical sciences ; Brain - abnormalities ; Child ; Child, Preschool ; Cohort Studies ; Ear Diseases - complications ; Eye Diseases - complications ; Facial Neoplasms - complications ; Facial Neoplasms - pathology ; Female ; Heart Defects, Congenital - complications ; Heart Defects, Congenital - pathology ; hemangioma ; Hemangioma - complications ; Hemangioma - pathology ; Humans ; Infant ; Male ; Medical sciences ; Neurocutaneous Syndromes - complications ; Neurocutaneous Syndromes - pathology ; Neurology ; pediatric stroke ; PHACE ; PHACES ; Prospective Studies ; Syndrome ; Vascular diseases and vascular malformations of the nervous system</subject><ispartof>American journal of medical genetics. Part A, 2006-05, Vol.140A (9), p.975-986</ispartof><rights>Copyright © 2006 Wiley‐Liss, Inc.</rights><rights>2006 INIST-CNRS</rights><rights>2006 Wiley-Liss, Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4989-6649025633c455b8c77bff426d8f3e1842cf6d2dd7502a87a7bbd79a1e1339333</citedby><cites>FETCH-LOGICAL-c4989-6649025633c455b8c77bff426d8f3e1842cf6d2dd7502a87a7bbd79a1e1339333</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fajmg.a.31189$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fajmg.a.31189$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=17729593$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16575892$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Metry, D.W.</creatorcontrib><creatorcontrib>Haggstrom, A.N.</creatorcontrib><creatorcontrib>Drolet, B.A.</creatorcontrib><creatorcontrib>Baselga, E.</creatorcontrib><creatorcontrib>Chamlin, S.</creatorcontrib><creatorcontrib>Garzon, M.</creatorcontrib><creatorcontrib>Horii, K.</creatorcontrib><creatorcontrib>Lucky, A.</creatorcontrib><creatorcontrib>Mancini, A.J.</creatorcontrib><creatorcontrib>Newell, B.</creatorcontrib><creatorcontrib>Nopper, A.</creatorcontrib><creatorcontrib>Heyer, G.</creatorcontrib><creatorcontrib>Frieden, I.J.</creatorcontrib><title>A prospective study of PHACE syndrome in infantile hemangiomas: Demographic features, clinical findings, and complications</title><title>American journal of medical genetics. Part A</title><addtitle>Am. J. Med. Genet</addtitle><description>PHACE (OMIM no. 606519) is a neurocutaneous syndrome that refers to the association of large, plaque‐like, “segmental” hemangiomas of the face, with one or more of the following anomalies: posterior fossa brain malformations, arterial cerebrovascular anomalies, cardiovascular anomalies, eye anomalies, and ventral developmental defects, specifically sternal defects and/or supraumbilical raphe. The etiology and pathogenesis of PHACE is unknown, and potential risk factors for the syndrome have not been systematically studied. The purpose of this study was thus to determine (1) the incidence of PHACE and associated anomalies among a large cohort of hemangioma patients, (2) whether certain demographic, prenatal or perinatal risk factors predispose infants to this syndrome, and (3) whether the cutaneous distribution of the hemangioma can be correlated to the types of anomalies present. We undertook a prospective, cohort study of 1,096 children with hemangiomas, 25 of whom met criteria for PHACE. These 25 patients represented 20% of infants with segmental facial hemangiomas. Compared to previous reports, our PHACE patients had a higher incidence of cerebrovascular and cardiovascular anomalies. Two developed acute arterial ischemic stroke during infancy, while two with cardiovascular anomalies showed documented evidence of normalization, suggesting that both progressive and regressive vascular phenomena may occur in this syndrome. Correlation to the anatomic location of the hemangioma appears to be helpful in determining which structural abnormalities might be present. A comparison of demographic and perinatal data between our PHACE cases and the hemangioma cohort overall showed no major differences, except a trend for PHACE infants to be of slighter higher gestational age and born to slightly older mothers. Eighty‐eight percent were female, a finding which has been noted in multiple other reports. Further research is needed to determine possible etiologies, optimal evaluation, and outcomes. © 2006 Wiley‐Liss, Inc.</description><subject>Abnormalities, Multiple - diagnosis</subject><subject>Abnormalities, Multiple - pathology</subject><subject>Airway Obstruction - complications</subject><subject>Biological and medical sciences</subject><subject>Brain - abnormalities</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Cohort Studies</subject><subject>Ear Diseases - complications</subject><subject>Eye Diseases - complications</subject><subject>Facial Neoplasms - complications</subject><subject>Facial Neoplasms - pathology</subject><subject>Female</subject><subject>Heart Defects, Congenital - complications</subject><subject>Heart Defects, Congenital - pathology</subject><subject>hemangioma</subject><subject>Hemangioma - complications</subject><subject>Hemangioma - pathology</subject><subject>Humans</subject><subject>Infant</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Neurocutaneous Syndromes - complications</subject><subject>Neurocutaneous Syndromes - pathology</subject><subject>Neurology</subject><subject>pediatric stroke</subject><subject>PHACE</subject><subject>PHACES</subject><subject>Prospective Studies</subject><subject>Syndrome</subject><subject>Vascular diseases and vascular malformations of the nervous system</subject><issn>1552-4825</issn><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2006</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkctv1DAQxiMEoqVw44x8gVOz-BHHNrfVUrag8pAAgbhYEz-2LokT4gRY_nq87NLeQLI01ug336eZrygeErwgGNOncNVtFrBghEh1qzgmnNOykozdvv5TflTcS-kKY4a5qO8WR6TmgktFj4tfSzSMfRqcmcJ3h9I02y3qPXp3vlydobSNduw7h0LMz0OcQuvQpesgbkLfQXqGnruu34wwXAaDvINpHl06RaYNMRhokQ_RhrjJLYgWmb4b2tyfQh_T_eKOhza5B4d6Unx8cfZhdV5evF2_XC0vSlMpqcq6rhSmvGbMVJw30gjReF_R2krPHJEVNb621FrBMQUpQDSNFQqII4wpxthJ8WSvmxf9Nrs06S4k49oWouvnpGshJZdS_hekWLFKVjvF0z1o8unS6LwextDBuNUE610oeheKBv0nlIw_OujOTefsDXxIIQOPDwCkfDQ_QjQh3XBCUMXVzpftuR85hu0_TfXy1ev1X_tyPxXS5H5eT8H4Na_OBNef3qz1-1XF6ef6i5bsNyW-tSA</recordid><startdate>20060501</startdate><enddate>20060501</enddate><creator>Metry, D.W.</creator><creator>Haggstrom, A.N.</creator><creator>Drolet, B.A.</creator><creator>Baselga, E.</creator><creator>Chamlin, S.</creator><creator>Garzon, M.</creator><creator>Horii, K.</creator><creator>Lucky, A.</creator><creator>Mancini, A.J.</creator><creator>Newell, B.</creator><creator>Nopper, A.</creator><creator>Heyer, G.</creator><creator>Frieden, I.J.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley-Liss</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20060501</creationdate><title>A prospective study of PHACE syndrome in infantile hemangiomas: Demographic features, clinical findings, and complications</title><author>Metry, D.W. ; Haggstrom, A.N. ; Drolet, B.A. ; Baselga, E. ; Chamlin, S. ; Garzon, M. ; Horii, K. ; Lucky, A. ; Mancini, A.J. ; Newell, B. ; Nopper, A. ; Heyer, G. ; Frieden, I.J.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4989-6649025633c455b8c77bff426d8f3e1842cf6d2dd7502a87a7bbd79a1e1339333</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2006</creationdate><topic>Abnormalities, Multiple - diagnosis</topic><topic>Abnormalities, Multiple - pathology</topic><topic>Airway Obstruction - complications</topic><topic>Biological and medical sciences</topic><topic>Brain - abnormalities</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Cohort Studies</topic><topic>Ear Diseases - complications</topic><topic>Eye Diseases - complications</topic><topic>Facial Neoplasms - complications</topic><topic>Facial Neoplasms - pathology</topic><topic>Female</topic><topic>Heart Defects, Congenital - complications</topic><topic>Heart Defects, Congenital - pathology</topic><topic>hemangioma</topic><topic>Hemangioma - complications</topic><topic>Hemangioma - pathology</topic><topic>Humans</topic><topic>Infant</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Neurocutaneous Syndromes - complications</topic><topic>Neurocutaneous Syndromes - pathology</topic><topic>Neurology</topic><topic>pediatric stroke</topic><topic>PHACE</topic><topic>PHACES</topic><topic>Prospective Studies</topic><topic>Syndrome</topic><topic>Vascular diseases and vascular malformations of the nervous system</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Metry, D.W.</creatorcontrib><creatorcontrib>Haggstrom, A.N.</creatorcontrib><creatorcontrib>Drolet, B.A.</creatorcontrib><creatorcontrib>Baselga, E.</creatorcontrib><creatorcontrib>Chamlin, S.</creatorcontrib><creatorcontrib>Garzon, M.</creatorcontrib><creatorcontrib>Horii, K.</creatorcontrib><creatorcontrib>Lucky, A.</creatorcontrib><creatorcontrib>Mancini, A.J.</creatorcontrib><creatorcontrib>Newell, B.</creatorcontrib><creatorcontrib>Nopper, A.</creatorcontrib><creatorcontrib>Heyer, G.</creatorcontrib><creatorcontrib>Frieden, I.J.</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>American journal of medical genetics. Part A</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Metry, D.W.</au><au>Haggstrom, A.N.</au><au>Drolet, B.A.</au><au>Baselga, E.</au><au>Chamlin, S.</au><au>Garzon, M.</au><au>Horii, K.</au><au>Lucky, A.</au><au>Mancini, A.J.</au><au>Newell, B.</au><au>Nopper, A.</au><au>Heyer, G.</au><au>Frieden, I.J.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A prospective study of PHACE syndrome in infantile hemangiomas: Demographic features, clinical findings, and complications</atitle><jtitle>American journal of medical genetics. Part A</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>2006-05-01</date><risdate>2006</risdate><volume>140A</volume><issue>9</issue><spage>975</spage><epage>986</epage><pages>975-986</pages><issn>1552-4825</issn><eissn>1552-4833</eissn><abstract>PHACE (OMIM no. 606519) is a neurocutaneous syndrome that refers to the association of large, plaque‐like, “segmental” hemangiomas of the face, with one or more of the following anomalies: posterior fossa brain malformations, arterial cerebrovascular anomalies, cardiovascular anomalies, eye anomalies, and ventral developmental defects, specifically sternal defects and/or supraumbilical raphe. The etiology and pathogenesis of PHACE is unknown, and potential risk factors for the syndrome have not been systematically studied. The purpose of this study was thus to determine (1) the incidence of PHACE and associated anomalies among a large cohort of hemangioma patients, (2) whether certain demographic, prenatal or perinatal risk factors predispose infants to this syndrome, and (3) whether the cutaneous distribution of the hemangioma can be correlated to the types of anomalies present. We undertook a prospective, cohort study of 1,096 children with hemangiomas, 25 of whom met criteria for PHACE. These 25 patients represented 20% of infants with segmental facial hemangiomas. Compared to previous reports, our PHACE patients had a higher incidence of cerebrovascular and cardiovascular anomalies. Two developed acute arterial ischemic stroke during infancy, while two with cardiovascular anomalies showed documented evidence of normalization, suggesting that both progressive and regressive vascular phenomena may occur in this syndrome. Correlation to the anatomic location of the hemangioma appears to be helpful in determining which structural abnormalities might be present. A comparison of demographic and perinatal data between our PHACE cases and the hemangioma cohort overall showed no major differences, except a trend for PHACE infants to be of slighter higher gestational age and born to slightly older mothers. Eighty‐eight percent were female, a finding which has been noted in multiple other reports. Further research is needed to determine possible etiologies, optimal evaluation, and outcomes. © 2006 Wiley‐Liss, Inc.</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>16575892</pmid><doi>10.1002/ajmg.a.31189</doi><tpages>12</tpages></addata></record> |
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subjects | Abnormalities, Multiple - diagnosis Abnormalities, Multiple - pathology Airway Obstruction - complications Biological and medical sciences Brain - abnormalities Child Child, Preschool Cohort Studies Ear Diseases - complications Eye Diseases - complications Facial Neoplasms - complications Facial Neoplasms - pathology Female Heart Defects, Congenital - complications Heart Defects, Congenital - pathology hemangioma Hemangioma - complications Hemangioma - pathology Humans Infant Male Medical sciences Neurocutaneous Syndromes - complications Neurocutaneous Syndromes - pathology Neurology pediatric stroke PHACE PHACES Prospective Studies Syndrome Vascular diseases and vascular malformations of the nervous system |
title | A prospective study of PHACE syndrome in infantile hemangiomas: Demographic features, clinical findings, and complications |
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