Hemangiomas and Other Vascular Lesions

Basics

Description

  • Vascular tumors: proliferative neoplasms of the vasculature include:
    • Infantile hemangioma (IH)
    • Congenital hemangiomas: noninvoluting congenital hemangioma (NICH) and rapidly involuting congenital hemangioma (RICH)
    • Tufted angioma (TA)
    • Kaposiform hemangioendothelioma (KHE)
    • Pyogenic granuloma
  • Vascular malformations (VaM): inborn errors of vascular morphogenesis; relatively static
    • Capillary malformations (CM) (e.g., salmon patch, port-wine stain, nevus flammeus)
    • Venous malformations (VM)
    • Arterial malformations: arteriovenous malformations (AVM) or arteriovenous fistula (AVF)
    • Lymphatic malformations (LM) (macrocystic and microcystic)
    • Combined malformations (e.g., capillary-venous-lymphatic)
  • Other types of VaM may occur in any part of the body and may be associated with soft tissue or bony overgrowth of the involved part.

Epidemiology

  • IHs
    • 4–5% of infants
    • Approximately 10% of Caucasian infants by age 12 months
  • CM occurs in 0.3–0.5% of newborns.

Risk Factors

  • Increased incidence in low-birth-weight and premature infants
  • Other demographic risk factors include
    • White non-Hispanic race
    • Female sex
    • Multiple gestation pregnancy
    • Advanced maternal age
    • Chorionic villus sampling during pregnancy
    • Positive family history

Commonly Associated Conditions

  • IHs
    • PHACE(S)
      • Segmental hemangioma (usually facial) associated with other developmental anomalies (posterior fossa malformations; hemangiomas; arterial anomalies; cardiac anomalies, including aortic coarctation; eye abnormalities; sternal defects/supraumbilical raphe)
      • Cerebral malformations occur in >50% and cerebrovascular anomalies in 33%.
    • LUMBAR
      • Lower body hemangiomas; urogenital anomalies; ulceration; myelopathy; bony deformities; anorectal malformations; arterial anomalies; renal anomalies
      • PHACE-like syndrome of the lower body with associated GI and GU anomalies
    • Segmental
      • Commonly located on the face and involving a developmental unit (segment) and frequently associated with complications, even without meeting full PHACE criteria
      • Segmental IH are much more likely to have complications and to receive treatment than focal IH.
  • KHE
    • Kasabach-Merritt phenomenon (consumptive coagulopathy, severe thrombocytopenia)
  • VaM
    • CM may be present as part of syndromes (e.g., Sturge-Weber, CM-AVM [RASA-1 mutations associated with fast-flow VaM], von Hippel-Lindau, Rubinstein-Taybi, Beckwith-Wiedemann, Cobb syndrome).
    • VM can be inherited autosomal dominantly due to TIE2/TEK gene mutations.
    • PIK3CA-related overgrowth spectrum (PROS): VaM due to postzygotic somatic mutation in PIK3CA gene pathway with associated overgrowth of multiple tissues
    • Generalized LM and lymphedema have been associated with multiple mutations including VEGFR3, VEGFC, FOXC2, SOX18.

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