The term “vascular anomalies” represents a heterogeneous spectrum of vascular lesions. Although the etiology is unclear and most likely represents a multifactorial process, studies evaluating response to medical therapies, the identification of genomic and somatic mutations in some patients with vascular anomalies, and other research findings have contributed to our understanding of the pathogenesis of these disorders. Patients with vascular anomalies represent a unique population, in that they have focal aberrations of vascular development (vasculogenesis in vascular malformations) or vascular proliferation (angiogenesis in hemangiomas). Descriptive analyses of associated skeletal and developmental variations have led to the discovery of patterns of anatomic distribution of many vascular anomalies, as well as the identification of syndromic associations. In recent years, genomic and somatic mutations have been recognized as etiologic factors in the evolution of these lesions.
However, despite an updated classification, and an increased interest in vascular anomalies on the part of many physicians, misdiagnosis remains a major impediment to optimal evaluation and management. Medical training and textbooks are in the process of being updated to address this shortcoming, in order to align physicians and other healthcare providers in all fields (e.g., pathologists, radiologists, orthopedists, surgical and medical generalists and specialists, etc.) to appreciate the differences among vascular anomalies. Recognition of these differences is essential to appropriate evaluation and management. As more physicians become fluent in this terminology, patients in turn can receive informed opinions and acquire realistic expectations concerning their diagnoses.
The most common error is using the term “hemangioma” as the diagnosis for any benign vascular lesion, and this has been verified by studies assessing the improper use of this term. The current chapter aims to discuss the differential diagnosis of proliferative vascular “tumors” and vascular malformations and to clarify the nomenclature and features which differentiate distinct categories of vascular anomalies.
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The author is grateful for the patients with vascular anomalies, their families, and colleagues who participate in the care of and research in this field.
Hassanein AH, Mulliken JB, Fishman SJ, Greene AK. Evaluation of terminology for vascular anomalies in current literature. Plast Reconstr Surg. 2011;127(1):347–51.CrossRefPubMedGoogle Scholar
Wassef M, Blei F, Adams D, Alomari A, Baselga E, Berenstein A, et al. Vascular anomalies classification: recommendations from the International Society for the Study of Vascular Anomalies. Pediatrics. 2015;136(1):e203–14.CrossRefPubMedGoogle Scholar
Orlow SJ, Isakoff MS, Blei F. Increased risk of symptomatic hemangiomas of the airway in association with cutaneous hemangiomas in a “beard” distribution. J Pediatr. 1997;131(4):643–6.CrossRefPubMedGoogle Scholar
Haggstrom AN, Lammer EJ, Schneider RA, Marcucio R, Frieden IJ. Patterns of infantile hemangiomas: new clues to hemangioma pathogenesis and embryonic facial development. Pediatrics. 2006;117(3):698–703.CrossRefPubMedGoogle Scholar
Darrow DH, Greene AK, Mancini AJ, Nopper AJ, Section On Dermatology SOO-H, Neck S, et al. Diagnosis and management of infantile hemangioma. Pediatrics. 2015;136(4):e1060–104.CrossRefPubMedGoogle Scholar
Darrow DH, Greene AK, Mancini AJ, Nopper AJ, Section On Dermatology SOO-H, Neck S, et al. Diagnosis and management of infantile hemangioma: executive summary. Pediatrics. 2015;136(4):786–91.CrossRefPubMedGoogle Scholar
Mulliken JB, Enjolras O. Congenital hemangiomas and infantile hemangioma: missing links. J Am Acad Dermatol. 2004;50(6):875–82.CrossRefPubMedGoogle Scholar
Sarkar M, Mulliken JB, Kozakewich HP, Robertson RL, Burrows PE. Thrombocytopenic coagulopathy (Kasabach-Merritt phenomenon) is associated with Kaposiform hemangioendothelioma and not with common infantile hemangioma. Plast Reconstr Surg. 1997;100(6):1377–86.CrossRefPubMedGoogle Scholar
Enjolras O, Wassef M, Mazoyer E, Frieden IJ, Rieu PN, Drouet L, et al. Infants with Kasabach-Merritt syndrome do not have “true” hemangiomas. J Pediatr. 1997;130(4):631–40.CrossRefPubMedGoogle Scholar
Corella F, Garcia-Navarro X, Ribe A, Alomar A, Baselga E. Abortive or minimal-growth hemangiomas: immunohistochemical evidence that they represent true infantile hemangiomas. J Am Acad Dermatol. 2008;58(4):685–90.CrossRefPubMedGoogle Scholar
Suh KY, Frieden IJ. Infantile hemangiomas with minimal or arrested growth: a retrospective case series. Arch Dermatol. 2010;146(9):971–6.CrossRefPubMedGoogle Scholar
Metry D, Heyer G, Hess C, Garzon M, Haggstrom A, Frommelt P, et al. Consensus statement on diagnostic criteria for PHACE syndrome. Pediatrics. 2009;124(5):1447–56.CrossRefPubMedGoogle Scholar
Iacobas I, Burrows PE, Frieden IJ, Liang MG, Mulliken JB, Mancini AJ, et al. LUMBAR: association between cutaneous infantile hemangiomas of the lower body and regional congenital anomalies. J Pediatr. 2010;157(5):795–801 e1–7.Google Scholar
Yin LX, Reh DD, Hoag JB, Mitchell SE, Mathai SC, Robinson GM, Merlo CA. The minimal important difference of the epistaxis severity score in hereditary hemorrhagic telangiectasia. Laryngoscope. 2016; 126(5):1029–32.Google Scholar
Vanderver A, Tonduti D, Kahn I, Schmidt J, Medne L, Vento J, et al. Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. Am J Med Genet A. 2014;164A(3):627–33.CrossRefPubMedGoogle Scholar
Mester JL, Tilot AK, Rybicki LA, Frazier 2nd TW, Eng C. Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model. Eur J Hum Genet. 2011;19(7):763–8.CrossRefPubMedPubMedCentralGoogle Scholar
Vogels A, Devriendt K, Legius E, Decock P, Marien J, Hendrickx G, et al. The macrocephaly-cutis marmorata telangiectatica congenita syndrome. Long-term follow-up data in 4 children and adolescents. Genet Couns. 1998;9(4):245–53.PubMedGoogle Scholar
Williams CA, Dagli A, Battaglia A. Genetic disorders associated with macrocephaly. Am J Med Genet A. 2008;146A(15):2023–37.CrossRefPubMedGoogle Scholar
Tosi LL, Sapp JC, Allen ES, O'Keefe RJ, Biesecker LG. Assessment and management of the orthopedic and other complications of Proteus syndrome. J Child Orthop. 2011;5(5):319–27.CrossRefPubMedPubMedCentralGoogle Scholar
Bubien V, Bonnet F, Brouste V, Hoppe S, Barouk-Simonet E, David A, et al. High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. J Med Genet. 2013;50(4):255–63.CrossRefPubMedGoogle Scholar
Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E. Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. J Natl Cancer Inst. 2013;105(21):1607–16.CrossRefPubMedGoogle Scholar
Mahdi H, Mester JL, Nizialek EA, Ngeow J, Michener C, Eng C. Germline PTEN, SDHB-D, and KLLN alterations in endometrial cancer patients with cowden and cowden-like syndromes: an international, multicenter, prospective study. Cancer. 2014.Google Scholar
Tan WH, Baris HN, Burrows PE, Robson CD, Alomari AI, Mulliken JB, et al. The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management. J Med Genet. 2007;44(9):594–602.CrossRefPubMedPubMedCentralGoogle Scholar
Alomari AI, Spencer SA, Arnold RW, Chaudry G, Kasser JR, Burrows PE, et al. Fibro-adipose vascular anomaly: clinical-radiologic-pathologic features of a newly delineated disorder of the extremity. J Pediatr Orthop. 2014;34(1):109–17.CrossRefPubMedGoogle Scholar