31 - Vascular anomalies

Abstract

The field of vascular anomalies incorporates several surgical and medical specialties. These disorders usually involve the skin and therefore the initial consultation is often with a plastic surgeon. Lesions are classified into tumors or malformations. The major vascular tumors and their mutations include: infantile hemangioma (unknown), congenital hemangioma (GNAQ, GNA11), kaposiform hemangioendothelioma (GNA14), and pyogenic granuloma (BRAF, HRAS, KRAS, NRAS). Vascular malformations comprise: capillary malformation (GNAQ, GNA11, PIK3CA), lymphatic malformation (PIK3CA), venous malformation (TIE2, PIK3CA, MAP3K3), and arteriovenous malformation (MAP2K1, KRAS, HRAS, BRAF). The most common vascular malformation overgrowth syndromes are: Sturge–Weber (GNAQ), Parkes Weber (RASA1, EPHB4), PTEN hamartoma tumor (PTEN), and PIK3CA-related overgrowth spectrum (e.g., Klippel–Trénaunay, CLOVES, macrocephaly–capillary malformation). Approximately 90% of vascular anomalies can be diagnosed by history and physical examination. Imaging is performed if the diagnosis is unclear and to document the extent of involvement of the lesion. Histopathology is rarely necessary. Management in an interdisciplinary vascular anomalies center is often necessary because the expertise of more specialists is required. Infantile hemangioma is managed with observation, topical timolol, intralesional triamcinolone, oral propranolol, or resection. Congenital hemangiomas are typically observed or managed operatively. Sirolimus is first-line intervention for kaposiform hemangioendothelioma. Pyogenic granulomas are excised. Capillary malformation is treated with pulsed-dye laser or operatively. Interventions for lymphatic malformation include: extirpation, sclerotherapy, bleomycin injection, carbon dioxide laser, radiofrequency ablation, or sirolimus. Venous malformations are managed with sclerotherapy or resection. Arteriovenous malformations are controlled by embolization or excision.