Chapter 642 Vascular Disorders
Vascular lesions of childhood may be divided into vascular birthmarks (malformations and tumors), benign acquired disorders, and genetic diseases. Familial disorders may involve arterial, capillary, lymph, or venous malformations (Table 642-1).
Vascular Birthmark
Vascular birthmarks consist of malformations that are present at birth and tumors, which usually arise in the 1st 2 mo of life.
Vascular Malformation
Vascular malformations are developmental errors in blood vessel formation. Malformations do not regress but slowly enlarge. They should be named after the predominant blood vessel forming the lesion (Table 642-2). Table 642-3 helps differentiate vascular malformations from true hemangiomas.
Table 642-2 VASCULAR MALFORMATIONS
TYPE | EXAMPLE(S) |
---|---|
Capillary | Port-wine stain |
Venous | Venous malformation |
Angiokeratoma circumscriptum (hyperkeratotic venule) | |
Cutis marmorata telangiectasia congenita (congenital phlebectasia) | |
Arterial | Arteriovenous malformation |
Lymphatic | Superficial lymphatic malformation (lymphangioma circumscriptum) |
Deep lymphatic malformation with macrocysts and/or microcysts (cystic hygroma) |
Table 642-3 MAJOR DIFFERENCES BETWEEN HEMANGIOMAS AND VASCULAR MALFORMATIONS
AVM, Arteriovenous malformation; bFGF, basic fibroblast growth factor; CM, capillary malformation/port-wine stain; LM, lymphatic malformation; LVM, lymphovenous malformation; PCNA, proliferating cell nuclear antigen; VEGF, vascular endothelial growth factor; VM, venous malformation.
From Eichenfield LF, Frieden IJ, Esterly NB: Textbook of neonatal dermatology, Philadelphia, 2001, WB Saunders, p 337.
Capillary Malformation (Port-Wine Stain)
Port-wine stains are present at birth. These vascular malformations consist of mature dilated dermal capillaries. The lesions are macular, sharply circumscribed, pink to purple, and tremendously varied in size (Fig. 642-1). The head and neck region is the most common site of predilection; most lesions are unilateral. The mucous membranes can be involved. As a child matures into adulthood, the port-wine stain may become darker in color and pebbly in consistency; it may occasionally develop elevated areas that bleed spontaneously.
True port-wine stains should be distinguished from the most common vascular malformation, the salmon patch of neonates, which, in contrast, is a relatively transient lesion (Chapter 639). When a port-wine stain is localized to the trigeminal area of the face, specifically around the eyelids, the diagnosis of Sturge-Weber syndrome (glaucoma, leptomeningeal venous angioma, seizures, hemiparesis contralateral to the facial lesion, intracranial calcification) must be considered (Chapter 589.3). Early screening for glaucoma is important to prevent additional damage to the eye. Port-wine stains also occur as a component of Klippel-Trenaunay syndrome and with moderate frequency in other syndromes, including Cobb (spinal arteriovenous malformation, port-wine stain), Proteus, Beckwith-Wiedemann, and Bonnet-Dechaume-Blanc syndromes. In the absence of associated anomalies, morbidity from these lesions may include a poor self-image, hypertrophy of underlying structures, and traumatic bleeding.
Venous Malformation
Venous malformations include vein-only malformation, angiokeratomas (hyperkeratotic venule), and cutis marmorata telangiectasia congenita.
Malformations consisting of veins only run the gamut from nodules containing a mass of venules (Fig. 642-2) to diffuse large vein abnormalities that may consist of either a superficial component resembling varicose veins, deeper venous malformations, or both. Nodular venous malformations are frequently confused with hemangiomas. Venous malformations may be differentiated by their presence at birth, lack of rapid growth phase, and no tendency toward regression. The treatment of choice for superficial nodular vascular malformations is surgical excision. Treatment of larger vein malformations is at best difficult and often impossible. Percutaneous sclerotherapy with direct injection of polidocanol microfoam, with color Doppler ultrasonographic guidance, is helpful in many patients, including those with Klippel-Trenaunay syndrome.
Angiokeratoma Circumscriptum
Several forms of angiokeratoma have been described. Angiokeratomas, characterized by ectasia of superficial dermal vessels and hyperkeratosis of the overlying epidermis, look like flat hemangiomas with a verrucous, irregular surface. Angiokeratoma circumscriptum is a rare disorder consisting of a solitary lesion or multiple lesions that manifest as a plaque or plaques of blue-red papules or nodules with a verrucous surface. The limbs are the sites of predilection. If therapy is desired, surgical excision is the treatment of choice.
Cutis Marmorata Telangiectatica Congenita (Congenital Phlebectasia)
Cutis marmorata telangiectatica congenita is benign vascular anomaly that represents dilatation of superficial capillaries and veins and is apparent at birth. Involved areas of skin have a reticulated red or purple hue that resembles physiologic cutis marmorata but is more pronounced and relatively unvarying (Fig. 642-3). The lesions may be restricted to a single limb and a portion of the trunk or may be more widespread. Port-wine stain may also be associated. The lesions become more pronounced during changes in environmental temperature, physical activity, or crying. In some cases, the underlying subcutaneous tissue is underdeveloped, and ulceration may occur within the reticulated bands. Rarely, defective growth of bone and other congenital abnormalities may be present. No specific therapy is indicated. Mild vascular-only cases may show gradual improvement. Adams-Oliver syndrome and cutis marmorata telangiectatica congenita–macrocephaly syndrome are rarely associated disorders.
Arteriovenous Malformation
Arteriovenous malformations (AVMs) are direct connections of artery to vein that bypass the capillary bed (Fig. 642-4). AVMs of the skin are very rare. They are diagnosed from their obvious arterial palpation. Many physicians mistakenly call all vascular malformations AVMs.
Klippel-Trenaunay and Klippel-Trenaunay-Weber Syndromes
Klippel-Trenaunay syndrome (KT) is a cutaneous vascular malformation that, in combination with bony and soft tissue hypertrophy and venous abnormalities, constitutes the triad of defects of this nonheritable disorder (Fig. 642-5). The anomaly is present at birth and usually involves a lower limb but may involve more than one as well as portions of the trunk or face. Enlargement of the soft tissues may be gradual and may involve the entire extremity, a portion of it, or selected digits. The vascular lesion most often is a capillary malformation, generally localized to the hypertrophied area. The deep venous system may be absent or hypoplastic. Venous blebs and/or vesicular lymphatic lesions may be present on the malformation’s surface. Thick-walled venous varicosities typically become apparent ipsilateral to the vascular malformation after the child begins to ambulate. If there is an associated AVM, the disorder is called Klippel-Trenaunay-Weber syndrome (KTW).

Figure 642-5 Overgrowth of the right arm and hand in and adolescent with Klippel-Trenaunay syndrome.
These disorders can be confused with Maffucci syndrome or, if the surface vascular lesion is minimal, with Milroy disease. Pain, limb swelling, and cellulitis may occur. Thrombophlebitis, dislocations of joints, gangrene of the affected extremity, heart failure, hematuria secondary to angiomatous involvement of the urinary tract, rectal bleeding from lesions of the gastrointestinal tract, pulmonary lesions, and malformations of the lymphatic vessels are infrequent complications. Arteriograms, venograms, and CT or MRI may delineate the extent of the anomaly, but surgical correction or palliation is often difficult. Percutaneous sclerotherapy guided by color echo Doppler ultrasonography is of benefit when a venous component is the dominant vessel in the malformation. The indications for radiologic studies of viscera and bones are best determined by clinical evaluation. Supportive care includes compression bandages for varicosities; surgical treatment may help carefully selected patients. Leg-length differences should be treated with orthotic devices to prevent the development of spinal deformities. Corrective bone surgery may eventually be needed to treat significant leg-length discrepancy.
Phakomatosis Pigmentovascularis
Phakomatosis pigmentovascularis is a rare disorder characterized by the association of a capillary malformation and melanocytic lesions. Typically, the capillary malformation is extensive, and associated pigmentary lesions may include dermal melanocytosis (mongolian spots), café-au-lait macules, or a nevus spilus (speckled nevus). Nonpigmented skin lesions that may occur in this setting include nevus anemicus and epidermal nevi. Systemic anomalies are seen in rare cases.

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