Hemangiomas and Other Vascular Lesions
- 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.
- 4–5% of infants
- Approximately 10% of Caucasian infants by age 12 months
- CM occurs in 0.3–0.5% of newborns.
- 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
- 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%.
- 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
- 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.
- Kasabach-Merritt phenomenon (consumptive coagulopathy, severe thrombocytopenia)
- 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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