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      Hemangiomas and Vascular Malformations: Current Theory and Management

      review-article
      Author(s): * ,
      Publication date (Electronic):
      Journal: International Journal of Pediatrics
      Publisher: Hindawi Publishing Corporation

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          Abstract

          Vascular anomalies are a heterogeneous group of congenital blood vessel disorders more typically referred to as birthmarks. Subcategorized into vascular tumors and malformations, each anomaly is characterized by specific morphology, pathophysiology, clinical behavior, and management approach. Hemangiomas are the most common vascular tumor. Lymphatic, capillary, venous, and arteriovenous malformations make up the majority of vascular malformations. This paper reviews current theory and practice in the etiology, diagnosis, and treatment of these more common vascular anomalies.

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          Hemangiomas and vascular malformations in infants and children: a classification based on endothelial characteristics.

          J Mulliken, J Glowacki (1982)
          Forty-nine specimens from a variety of vascular lesions were analyzed for cellular characteristics. Two major categories of lesions emerged from this investigation: hemangiomas and vascular malformations. This classification and its implications are justified by several considerations. Hemangiomas in the proliferating phase (n = 14) were distinguished by (1) endothelial hyperplasia with incorporation of [3H]thymidine, (2) multilaminated basement membrane formation beneath the endothelium, and (3) clinical history of rapid growth during early infancy. Hemangiomas in the involuting phase (n = 12) exhibited (1) histologic fibrosis and fat deposition, (2) low to absent [3H]thymidine labeling of endothelial cells, and (3) rapid growth and subsequent regression. The endothelium in hemangiomas had many characteristics of differentiation: Weibel-Palade bodies, alkaline phosphatase, and factor VIII production. Vascular malformations (n = 23) demonstrated no tritiated thymidine incorporation and normal ultrastructural characteristics. These lesions were usually noted at birth, grew proportionately with the child, and consisted of abnormal, often combined, capillary, arterial, venous, and lymphatic vascular elements. This cell-oriented analysis provides a simple yet comprehensive classification of vascular lesions of infancy and childhood and serves as a guide for diagnosis, management, and further research.
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            Growth characteristics of infantile hemangiomas: implications for management.

            Eulalia Baselga, Sarah L Chamlin, A. Horii … (2008)
            Infantile hemangiomas often are inapparent at birth and have a period of rapid growth during early infancy followed by gradual involution. More precise information on growth could help predict short-term outcomes and make decisions about when referral or intervention, if needed, should be initiated. The objective of this study was to describe growth characteristics of infantile hemangioma and compare growth with infantile hemangioma referral patterns. A prospective cohort study involving 7 tertiary care pediatric dermatology practices was conducted. Growth data were available for a subset of 526 infantile hemangiomas in 433 patients from a cohort study of 1096 children. Inclusion criteria were age younger than 18 months at time of enrollment and presence of at least 1 infantile hemangioma. Growth stage and rate were compared with clinical characteristics and timing of referrals. Eighty percent of hemangioma size was reached during the early proliferative stage at a mean age of 3 months. Differences in growth between hemangioma subtypes included that deep hemangiomas tend to grow later and longer than superficial hemangiomas and that segmental hemangiomas tended to exhibit more continued growth after 3 months of age. The mean age of first visit was 5 months. Factors that predicted need for follow-up included ongoing proliferation, larger size, deep component, and segmental and indeterminate morphologic subtypes. Most infantile hemangioma growth occurs before 5 months, yet 5 months was also the mean age at first visit to a specialist. Recognition of growth characteristics and factors that predict the need for follow-up could help aid in clinical decision-making. The first few weeks to months of life are a critical time in hemangioma growth. Infants with hemangiomas need close observation during this period, and those who need specialty care should be referred and seen as early as possible within this critical growth period.
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              Somatic Mutations in the Angiopoietin-Receptor TIE2 Can Cause Both Solitary and Multiple Sporadic Venous Malformations

              Nisha Limaye, Vinciane Wouters, Melanie Uebelhoer … (2008)
              Germline substitutions in the endothelial cell tyrosine kinase receptor TIE2/TEK cause a rare inherited form of venous anomalies, mucocutaneous venous malformations (VMCM)1-4. We now identified a somatic 2nd hit causing loss-of-function of the receptor in a resected VMCM. We assessed for whether such localized, tissue-specific events play a role in the etiology of the far more common sporadic VM. Eight somatic TIE2 mutations were identified in lesions from 28 out of 57 patients (49.1%), not detected in their blood or in control tissues. The somatic mutations included a frequent L914F change, and a series of double-mutations that occurred in cis, all of which show ligand-independent hyperphosphorylation in vitro. When overexpressed in HUVECs, L914F showed abnormal localization and response to ligand, differing from wild-type and the common inherited R849W mutant, suggesting they may have distinct effects. The presence of the same mutations in multifocal VMs in two patients, suggests a common origin for the abnormal endothelial cells in the distant sites. In conclusion, these data illustrate that a sporadic disease may be explained by somatic changes in a gene causing rare, inherited forms, and pinpoint TIE2 pathways as potential therapeutic targets for VM.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Int J Pediatr
                Journal ID (iso-abbrev): Int J Pediatr
                Journal ID (publisher-id): IJPED
                Title: International Journal of Pediatrics
                Publisher: Hindawi Publishing Corporation
                ISSN (Print): 1687-9740
                ISSN (Electronic): 1687-9759
                Publication date (Print): 2012
                Publication date (Electronic): 7 May 2012
                Volume: 2012
                Electronic Location Identifier: 645678
                Affiliations
                Division of Pediatric Otolaryngology, Department of Otolaryngology-Head and Neck Surgery, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, 1 Children's Way, Little Rock, AR 72202, USA
                Author notes
                *Gresham T. Richter: gtrichter@ 123456uams.edu

                Academic Editor: Ajoy M. Varghese

                Article
                DOI: 10.1155/2012/645678
                PMC ID: 3352592
                PubMed ID: 22611412
                SO-VID: 09f6f5e0-7fb0-447d-a9b1-e34ed552fb65
                Copyright © Copyright © 2012 G. T. Richter and A. B. Friedman.
                License:

                This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 2 August 2011
                Date revision received : 17 November 2011
                Date accepted : 17 January 2012
                Categories
                Subject: Review Article

                ScienceOpen disciplines: Pediatrics
                Data availability:
                ScienceOpen disciplines: Pediatrics

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