Simple vascular malformation

Simple vascular malformations are a group of congenital anomalies of blood vessel development that are present at birth, although they may not always be clinically apparent until later in life. According to the International Society for the Study of Vascular Anomalies (ISSVA) classification, simple vascular malformations are composed of a single type of vessel and include capillary malformations, venous malformations, lymphatic malformations, and arteriovenous malformations. These lesions affect the vascular system and can occur in virtually any part of the body, including the skin, soft tissues, bones, and internal organs. Unlike vascular tumors (such as infantile hemangiomas), vascular malformations do not proliferate and then involute; instead, they grow proportionally with the child and persist throughout life. Clinical features vary depending on the type and location of the malformation. Capillary malformations typically present as flat, pink-to-red skin discolorations (port-wine stains). Venous malformations appear as soft, compressible, bluish masses that may cause pain, swelling, and localized intravascular coagulopathy. Lymphatic malformations manifest as cystic or diffuse swellings, often in the head, neck, or axillary regions, and can be complicated by infection or bleeding. Arteriovenous malformations involve abnormal connections between arteries and veins and may cause warmth, pulsation, pain, and in severe cases, high-output cardiac failure or hemorrhage. Treatment depends on the type, size, location, and symptoms of the malformation. Options include conservative management with compression garments, sclerotherapy (injection of agents to shrink the malformation), endovascular embolization, laser therapy (particularly for capillary malformations), and surgical excision. Many cases require a multidisciplinary approach involving dermatologists, interventional radiologists, vascular surgeons, and other specialists. Some simple vascular malformations occur sporadically, while others may be associated with somatic or germline genetic mutations (e.g., mutations in TEK/TIE2 for venous malformations, or PIK3CA for lymphatic malformations). Complete cure is not always achievable, and recurrence after treatment is possible, particularly for extensive lesions.

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