Case: A red, white, and blue lump present since birth

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Under the current classification scheme adopted by the International Society for the Study of Vascular Anomalies in 1996, most vascular lesions of infants and children belong to one of two categories: vascular tumors or vascular malformations. Vascular malformations tend to be present at birth, do not grow, and persist throughout life. Capillary malformations include the common salmon patch (stork bites, angel kisses), present in 80% to 90% of newborns, and port wine stains, present in only three in 1,000 newborns. Other malformations include venous malformations, lymphatic malformations, and arteriovenous malformations, which are actually quite rare.

Hemangiomas are the most common vascular tumor of infancy and childhood, developing in eight to 10% of children by 2 months of age. Two major subgroups of cutaneous hemangiomas were initially described: the common infantile hemangioma (IH), which accounts for the majority of hemangiomas, and the rare rapidly involuting congenital hemangioma (RICH).

In 2001, Enjolras et al identified 53 patients from three major vascular anomalies centers with another rare benign congenital vascular neoplasm, which possesses some unique clinical, radiologic, and histopathologic characteristics distinct from IH and RICH. She coined a new term, and called the lesion noninvoluting congenital hemangioma (NICH).¹

Etiology and pathogenesis

The exact etiology of NICH has not been elucidated. Studies suggest that IH may involve somatic mutation(s) of regulatory genes that result in a clonal expansion of endothelial cells.² Some have proposed that the different features seen in RICH and NICH could be a manifestation of different somatic mutations.³

Clinical findings

Given its congenital nature, NICH lesions develop in utero and are present at birth as fully-grown tumors. The lesions typically are single and are most commonly found in the head and neck, followed by the trunk and limbs.^1,3 They are usually well-demarcated, moderately sized (three to six cm in diameter), round-to-oval, plaque-like or bossed lesions with a pink, blue-red, or purple background hue. Prominent coarse telangiectasias are seen on the surface, which are often accompanied by a pale rim and/or intermingled areas of pallor. On palpation, these lesions are warm, and they demonstrate high-flow characteristics on Doppler evaluation.

As suggested by the name, NICH lesions either remain unchanged or grow proportionally with the child, with increased draining veins that are apparent in the periphery of the lesions.¹ Although NICHs have not been associated with extracutaneous features, lesions located near the airway, eye, urethra, or anus could potentially compromise vital functions. A large NICH lesion may also predispose a child to high-output cardiac failure or disseminated intravascular coagulation (Kassabach-Merritt syndrome). Finally, ulceration of NICH can also occur, with resultant pain and secondary infection.