A case of large airway and orbital hemangiomas with facial capillary malformation
Infantile hemangiomas (IHs) are the most common pediatric vascular tumors, although their genetic etiology is largely unknown. Congenital capillary malformations (CMs) are associated with known somatic pathogenic variants, including GNAQ, GNA11, PIK3CA, and PIK3R1. Co‐occurrence of a facial CM such...
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| Veröffentlicht in: | Pediatric dermatology 2023-11, Vol.40 (6), p.1142-1144 |
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| creator | Kreher, Margaret Ann Siegel, Liza H. Shmuylovich, Leonid |
| description | Infantile hemangiomas (IHs) are the most common pediatric vascular tumors, although their genetic etiology is largely unknown. Congenital capillary malformations (CMs) are associated with known somatic pathogenic variants, including GNAQ, GNA11, PIK3CA, and PIK3R1. Co‐occurrence of a facial CM such as port wine stain and IH is not associated with any recognized vascular anomaly syndromes and rarely reported in the literature. We describe a case of a 5‐week‐old female patient with a large facial CM and extensive IHs of the lower lip, airway, and orbit who presented with airway compromise and responded to propranolol therapy. |
| doi_str_mv | 10.1111/pde.15340 |
| format | Article |
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Congenital capillary malformations (CMs) are associated with known somatic pathogenic variants, including GNAQ, GNA11, PIK3CA, and PIK3R1. Co‐occurrence of a facial CM such as port wine stain and IH is not associated with any recognized vascular anomaly syndromes and rarely reported in the literature. We describe a case of a 5‐week‐old female patient with a large facial CM and extensive IHs of the lower lip, airway, and orbit who presented with airway compromise and responded to propranolol therapy.</description><identifier>ISSN: 0736-8046</identifier><identifier>EISSN: 1525-1470</identifier><identifier>DOI: 10.1111/pde.15340</identifier><identifier>PMID: 37164359</identifier><language>eng</language><publisher>United States: Wiley Subscription Services, Inc</publisher><subject>airway obstruction ; Case reports ; Congenital defects ; Congenital diseases ; Hemangioma ; Pediatrics ; port‐wine stain ; Propranolol ; Respiratory tract ; Skin diseases ; vascular malformations ; Vein & artery diseases</subject><ispartof>Pediatric dermatology, 2023-11, Vol.40 (6), p.1142-1144</ispartof><rights>2023 Wiley Periodicals LLC.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c3130-85f2c975bab4ecccadf771f44dd429ed290d5806f7c45fcff09d7cf0fb7e4cc63</cites><orcidid>0009-0007-1542-0891</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fpde.15340$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fpde.15340$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>315,782,786,1419,27931,27932,45581,45582</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/37164359$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Kreher, Margaret Ann</creatorcontrib><creatorcontrib>Siegel, Liza H.</creatorcontrib><creatorcontrib>Shmuylovich, Leonid</creatorcontrib><title>A case of large airway and orbital hemangiomas with facial capillary malformation</title><title>Pediatric dermatology</title><addtitle>Pediatr Dermatol</addtitle><description>Infantile hemangiomas (IHs) are the most common pediatric vascular tumors, although their genetic etiology is largely unknown. 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We describe a case of a 5‐week‐old female patient with a large facial CM and extensive IHs of the lower lip, airway, and orbit who presented with airway compromise and responded to propranolol therapy.</description><subject>airway obstruction</subject><subject>Case reports</subject><subject>Congenital defects</subject><subject>Congenital diseases</subject><subject>Hemangioma</subject><subject>Pediatrics</subject><subject>port‐wine stain</subject><subject>Propranolol</subject><subject>Respiratory tract</subject><subject>Skin diseases</subject><subject>vascular malformations</subject><subject>Vein & artery diseases</subject><issn>0736-8046</issn><issn>1525-1470</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2023</creationdate><recordtype>article</recordtype><recordid>eNp10E1LwzAYB_AgipvTg19AAl700C1pk6Y9jjlfYKCCnkualy2jbWrSMvbtjXZ6EMwlEH758zx_AC4xmuJwZq1UU0wTgo7AGNOYRpgwdAzGiCVplCGSjsCZ91uEUJam-BSMEoZTktB8DF7nUHCvoNWw4m6tIDdux_eQNxJaV5qOV3Cjat6sja25hzvTbaDmwoR3wVtThV97WPNKW1fzztjmHJxoXnl1cbgn4P1--bZ4jFbPD0-L-SoSCU5QlFEdi5zRkpdECSG41IxhTYiUJM6VjHMkaYZSzQShWmiNcsmERrpkigiRJhNwM-S2zn70yndFbbxQYaBG2d4XcYZjijKa00Cv_9Ct7V0TpgsqRzFLGMuCuh2UcNZ7p3TROlOH9QqMiq-ei9Bz8d1zsFeHxL6slfyVP8UGMBvAzlRq_39S8XK3HCI_AS0th0I</recordid><startdate>202311</startdate><enddate>202311</enddate><creator>Kreher, Margaret Ann</creator><creator>Siegel, Liza H.</creator><creator>Shmuylovich, Leonid</creator><general>Wiley Subscription Services, Inc</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7T5</scope><scope>H94</scope><scope>K9.</scope><scope>NAPCQ</scope><scope>7X8</scope><orcidid>https://orcid.org/0009-0007-1542-0891</orcidid></search><sort><creationdate>202311</creationdate><title>A case of large airway and orbital hemangiomas with facial capillary malformation</title><author>Kreher, Margaret Ann ; Siegel, Liza H. ; Shmuylovich, Leonid</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3130-85f2c975bab4ecccadf771f44dd429ed290d5806f7c45fcff09d7cf0fb7e4cc63</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2023</creationdate><topic>airway obstruction</topic><topic>Case reports</topic><topic>Congenital defects</topic><topic>Congenital diseases</topic><topic>Hemangioma</topic><topic>Pediatrics</topic><topic>port‐wine stain</topic><topic>Propranolol</topic><topic>Respiratory tract</topic><topic>Skin diseases</topic><topic>vascular malformations</topic><topic>Vein & artery diseases</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kreher, Margaret Ann</creatorcontrib><creatorcontrib>Siegel, Liza H.</creatorcontrib><creatorcontrib>Shmuylovich, Leonid</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>Immunology Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Premium</collection><collection>MEDLINE - Academic</collection><jtitle>Pediatric dermatology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kreher, Margaret Ann</au><au>Siegel, Liza H.</au><au>Shmuylovich, Leonid</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A case of large airway and orbital hemangiomas with facial capillary malformation</atitle><jtitle>Pediatric dermatology</jtitle><addtitle>Pediatr Dermatol</addtitle><date>2023-11</date><risdate>2023</risdate><volume>40</volume><issue>6</issue><spage>1142</spage><epage>1144</epage><pages>1142-1144</pages><issn>0736-8046</issn><eissn>1525-1470</eissn><abstract>Infantile hemangiomas (IHs) are the most common pediatric vascular tumors, although their genetic etiology is largely unknown. 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| subjects | airway obstruction Case reports Congenital defects Congenital diseases Hemangioma Pediatrics port‐wine stain Propranolol Respiratory tract Skin diseases vascular malformations Vein & artery diseases |
| title | A case of large airway and orbital hemangiomas with facial capillary malformation |
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