Infantile Hemangiomas

Clinical Manifestations

Hemangiomas are classified as superficial, deep, or mixed lesions. Superficial hemangiomas, involving the papillary dermis, are red and protuberant. Superficial hemangiomas have well-defined borders. Deep lesions invade the reticular dermis and superficial fat. They tend to have a blue-purple discoloration with normal skin texture. The margins of deep lesions may be ill defined. Most lesions have both superficial and deep components (Figure 123-1). A mature hemangioma contains characteristics of capillaries, venules, and arterioles.

Figure 123-1 Hemangioma.

Although subtle skin changes may be present at birth, most hemangiomas do not become evident until the first few weeks of life when they undergo a period of rapid growth that may last 6 to 9 months. Growth then slows, and most cease growing by 10 to 12 months of age. Spontaneous involution and regression occurs after the cessation of growth. The first sign of regression is the appearance of grayish changes on the surface of the hemangioma. Although the vascular elements of the tumor may completely regress, they are often replaced by fibrofatty tissue that results in permanent skin changes (30%), including scarring, atrophy, telangiectasias, or permanent discoloration. Although some lesions will not fully regress, more than 60% of lesions have completed their regression by age 5 years, with almost all lesions completed by age 9 years.

Congenital Hemangiomas

Congenital hemangiomas are fully formed at birth. Although they may follow a growth pattern consistent with infantile hemangiomas, a subset has distinctive growth patterns and characteristics. Noninvoluting congenital hemangiomas (NICHs) do not have a proliferative phase and grow only in proportion to the child’s growth. NICHs are usually round, deep tumors with surface telangiectasias and a purplish coloration. The lesions usually have a rim of pallor. Rapidly involuting congenital hemangiomas (RICHs) have accelerated regression and may even show signs of involution at birth. They may appear similar to NICH or infantile hemangiomas and have generally involuted within the first year of life.

PHACES Syndrome

Large, segmental facial hemangiomas may be associated with PHACES (posterior fossa malformations, hemangiomas, arterial anomalies, cardiac anomalies, eye abnormalities, sternal cleft or supraumbilical raphe) syndrome (Figure 123-2). The most common associated feature of PHACES syndrome is posterior fossa malformations, particularly Dandy-Walker type and cerebellar hypoplasia. Arterial anomalies and stenosis affecting arteries of the head and neck are found in one-third of patients. Cardiac anomalies such as coarctation are also common and can be in atypical locations along the course of the aorta. Less common associations include eye anomalies and sternal clefting or supraumbilical raphe. PHACES should be considered in any child presenting with a large, segmental facial hemangioma. Suspected patients should be referred to a neurologist for complete neurologic evaluation, including MRI or magnetic resonance angiography of the brain and neck as well as cardiac evaluation. Ophthalmologic evaluation should also be considered.

Figure 123-2 PHACES syndrome.

Tufted Angiomas

Tufted angiomas are uncommon benign vascular tumors that develop within the first year of life. Located most commonly on the thorax, tufted angiomas are red to blue subcutaneous nodules and plaques. Tufted angiomas grow slowly with lateral extension, and regression is uncommon.

Kaposiform Hemangioendothelioma

Kaposiform hemangioendothelioma (KHE) is a locally aggressive vascular tumor. KHE may initially present with a similar appearance to infantile hemangiomas, but the lesions become nodular and violaceous. KHE may be present at birth and commonly affects children younger than 2 years of age. Boys and girls are equally affected. KHE may invade local soft tissue and bone.

Kasabach-Merritt Phenomenon

Rapidly expanding vascular tumors are associated with Kasabach-Merritt phenomenon, a consumptive coagulopathy of thrombocytopenia, coagulopathy, and microangiopathic hemolytic anemia. Unfortunately, the original description of this phenomenon was attributed to hemangiomas, but it was later found that the Kasabach-Merritt phenomenon happens exclusively with tufted angiomas, KHEs, and hemangiopericytomas. In Kasabach-Merritt phenomenon, infants present with acute enlargement of the vascular lesions and bleeding complications. Kasabach-Merritt phenomenon requires immediate medical attention because the mortality rate can be as high as 30%. Smaller lesions may be amenable to surgical excision with or without embolization. Lesions that cannot be resected present somewhat of a therapeutic challenge. Systemic corticosteroids are often used, but resistant lesions may require treatment with chemotherapeutic agents such as INF-α and vincristine.

Pyogenic Granuloma

Pyogenic granulomas are acquired vascular tumors that present as red to brown papules. Usually solitary, pyogenic granulomas can occur anywhere on the skin and mucous membranes but frequently are at sites of trauma. Lesions are benign but frequently bleed with slight trauma. Shave excision with electrodessication at the base is often adequate for resolution of these lesions.

Capillary Malformations

Venous Malformations

Venous malformations (VMs) most commonly affect cutaneous and mucosal structures but can involve internal structures as well. VMs are often isolated bluish lesions with cutaneous and mucosal involvement. Although most VMs are present at birth, they do become more prominent as the patient ages. VMs should not have an associated warmth or palpable flow such as a thrill. VMs are composed of collections of ectatic thin-walled vessels that are deficient in smooth muscles. Significant bony abnormalities may result from deeper involvement. Although VMs are common sporadic lesions, rare familial and syndromic associations are found. There are no histologic differences between inherited and sporadic VMs. Blue rubber bleb syndrome is a rare condition of the skin, gastrointestinal, and other internal organ VMs. Maffucci’s syndrome is a rare disorder of VM and benign cartilage enlargement (endochondromas) that may be associated with chondrosarcoma.

Recommended diagnostic imaging of choice in VMs is MRI, which can define the extent of the lesion and involvement of underlying structures. Head and neck VMs are associated with vascular anomalies of the brain. Sclerotherapy is effective in providing symptomatic relief and shrinking lesions or as an adjuvant therapy to surgical excision. Lesions, particularly on the extremities, respond well to compression and support devices. Lesions prone to thrombotic events can be treated with low-dose aspirin, and systemic coagulopathy often responds to low-molecular-weight heparin.

Glomuvenous Malformations

Some venous malformations have an additional cell type, the peripheral chemoreceptor, the glomus cell. Approximately 5% of all VMs contain glomus cells, so they are more appropriately named glomuvenous malformations (GVMs) or glomangiomas. These lesions are important to distinguish from the more common VM because therapy differs. GVMs are bluish-purple and raised and have a cobblestone surface. GVMs are often painful with compression. GVMs may be sporadic or familial but do have a high rate of familial inheritance (38%-63%). GVMs are often amenable to excision.

Lymphatic Malformations

Lymphatic malformations are aberrantly connected collections of lymphatic channels and lymphatic cysts. Diffuse lymphatic malformation is termed lymphedema. Primary lymphedema is characterized by the age of presentation; congenital lymphedema (type I or Nonne-Milroy disease), ages 1 to 35 years (type II or lymphedema praecox), or older than 35 years of age (lymphedema tarda).

Localized lymphatic malformations are characterized as either deep “macrocystic” lesions” or superficial “microcystic” lesions. Most lesions present by 2 years of age, with approximately 70% noted at birth. Continual expansion of lesions may be caused by progressive dilatation of the abnormal channels.

Clinical sequelae of lymphatic malformations largely depend on their location. Congenital malformations often lead to structural abnormalities. Lesions of the extremities can lead to impairment and overgrowth. Large lesions may present with consumptive sequelae such as hypoproteinemia and hypogammaglobulinemia. Lymphocytes can sequester in lymphatic malformations, leading to lymphopenia and susceptibility to infection. Leakage of lymph fluid may affect local structures, resulting in chylous effusions or ascites. Surgical resection, when possible, is the recommended therapy for lymphatic malformations.

Lymphatic malformations and lymphedema are associated with a number of genetic syndromes, including Turner, Noonan, and Down syndromes. Prenatally diagnosed cystic hygromas are associated with chromosomal abnormalities in 62% of cases, most commonly Turner’s syndrome (33%).

Arteriovenous Malformations

Arteriovenous malformations (AVMs) are uncommon vascular malformations that represent a connection of arterial and venous channels without a capillary bed. They are found equally in males and females, and most are present at birth. Their clinical appearance may vary from erythematous macules and plaques to larger nodules. Unlike other vascular lesions, they are associated with increased warmth, pulsation, or audible flow, such as a bruit or thrill. Imaging, such as ultrasonography with Doppler flow, computed tomography, or MRI, confirms diagnosis of an AVM. AVMs may stay fairly quiescent or enter a period of growth. Locally aggressive lesions can cause deeper invasion, including bone involvement, ulceration, or hemorrhage. Treatment of AVMs is most successful when undertaken early and involves embolization with resection when anatomically feasible.