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Facial midline hemangioma

MedGen UID:
350686
•Concept ID:
C1862496
•
Finding; Neoplastic Process
HPO: HP:0004664

Definition

Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the midline region of the face. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFacial midline hemangioma

Professional guidelines

PubMed

Consensus Statement on Diagnostic Criteria for PHACE Syndrome.
Metry D, Heyer G, Hess C, Garzon M, Haggstrom A, Frommelt P, Adams D, Siegel D, Hall K, Powell J, Frieden I, Drolet B; PHACE Syndrome Research Conference
Pediatrics 2009 Nov;124(5):1447-56. Epub 2009 Oct 26 doi: 10.1542/peds.2009-0082. PMID: 19858157

Recent clinical studies

Diagnosis

The blended phenotype of a germline RIT1 and a mosaic PIK3CA variant.
Berland S, Jareld J, Hickson N, Schlecht H, Houge G, Douzgou S
Cold Spring Harb Mol Case Stud 2021 Dec;7(6) Epub 2021 Dec 9 doi: 10.1101/mcs.a006121. PMID: 34887308Free PMC Article

Clinical prediction guides

The blended phenotype of a germline RIT1 and a mosaic PIK3CA variant.
Berland S, Jareld J, Hickson N, Schlecht H, Houge G, Douzgou S
Cold Spring Harb Mol Case Stud 2021 Dec;7(6) Epub 2021 Dec 9 doi: 10.1101/mcs.a006121. PMID: 34887308Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

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    Consumer resources

    Reviews

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