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VASCULAR MALFORMATIONS

Capillary malformations

These include the following.

Lesions that constitute vascular ectasias rather than malformations, such as erythema nuchae, are described in Chapter 19.

Port wine stain

A flat, red or pink patch is characteristic of a port wine stain (PWS), a congenital vascular patch comprising super?cially located dermal vessels. At birth, a PWS cannot always be distinguished from a hemangioma, which will proliferate into a vascular plaque in the ensuing weeks. It often follows a dermatomal distribution and, when located about the eyes, it may signify internal abnormalities (Figs 15.2 and 15.3).

    Facial PWS involving the V1 dermatome (forehead, upper and lower eyelid, and side of the nose) may be associated with ocular abnormalities (e.g. glaucoma and choroidal angioma) with or without Sturge - Weber syndrome (Fig.15.4, see also text below and Fig. 5.6); for PWS in this distribution, ophthalmologic examination initially and every 6 months is recommended.

    Laser (usually tunable dye) therapy, even in infancy, is recommended for cosmesis. Treatment in infancy is recommended because of a smaller surface area and greater lightening of lesions. In one study, lesions greater than 20cm2 and lesions in patients older than 1 year of age were less likely to clear. Complete clearing is often not achieved, but the PWS is converted to mild erythema. PWSs of V2 respond slightly less well to the tunable dye laser than elsewhere on the face. If untreated, the PWS may become raised, irregularly surfaced, and deeply colored later in life. Vascular nodules are commonly seen in middle age in untreated lesions (Fig.15.5).

    Port wine stains that tend to respond less well are red-purple, dark or nodular, non-facial, and especially acral. Those on the lower leg or foot are the most dif?cult to clear. The larger the lesion (e.g. >20cm2), the less likely it is to clear.

Fig. 15.2 Ocular changes with port wine stain.

Fig. 15.3 Port wine stain: (a) on the arm, palm, and several fingers, and (b) on the leg

Fig. 15.4 Facial port wine stains (PWSs) involving V1 may be associated with ocular abnormalities (e.g. glaucoma and choroidal angioma) with or without Sturge–Weber syndrome. The child shown here with a PWS of V3 is at risk for neither. Cosmesis is the main concern.

Sturge - Weber syndrome

The Sturge - Weber syndrome (SWS) is a non-inherited disorder that combines a facial PWS involving the V1 dermatome (forehead, upper and lower eyelid, and side of the nose; Fig.15.6), seizures (usually within the ?rst year of life), and ipsilateral leptomeningeal angiomatosis. Other associations include mental retardation and glaucoma. If the PWS is in the V2 (upper lip and cheek) or V3 (lower lip, chin, jawline, ear, and preauricular) dermatome without involvement of V1, there is no need to consider SWS. (Note: there is some difference in the location of V1 and V2 regarding the lower eyelid, making for some disagreement in recent studies.) If V1 (eyelid or the side of the nose) is involved, one does need to rule out the SWS (V1 alone approximate risk 10%; V1, V2, and V3 together, approximate risk 30%). Full V1 involvement or bilaterality represents a higher risk. An ophthalmologic examination should be obtained to exclude glaucoma, which is more likely when there is involvement of both the upper and lower eyelids by PWS.

    Treatment requires a multidisciplinary approach. Magnetic resonance imaging (MRI) may be used to diagnose SWS and delineate central nervous system involvement. An ophthalmologic examination should be obtained initially and every 6 months. Laser treatment of the cutaneous component is discussed in the preceding section on PWS.

Fig. 15.5 If untreated, PWS may become darker red, thickened, and irregular-surfaced, with nodularity.

Fig. 15.6 Sturge - Weber syndrome (SWS). If the port wine stain is in the V2 (upper lip and cheek) or V3 (lower lip, chin, jawline, ear, and preauricular) dermatome without involvement of V1, there is no need to rule out SWS. Involvement of V1, V2, and V3, as shown here, signi?cantly increases the risk of SWS.

Klippel - Trenaunay syndrome

Klippel - Trenaunay syndrome combines a nevus flammeus and ipsilateral hypertrophy of the underlying soft tissue and bone. Onset is at birth or soon after, and more boys than girls are affected. Other reported associations including lymphatic obstruction, spina fibilda, polydactyly, and syndactyly. Blood in the urine or stool may develop from bladder, colonic, or rectal lesions. Venous thromboembolism (e.g. pulmonary embolism) is not uncommon, and superficial thrombophlebitis may occur. Varicose veins present in the majority and symptomatically cause pain and swelling (Fig.15.7). The lower limb is involved in the majority of cases.

    In one study, the presence of a geographic (versus blotchy) stain was highly correlated with an underlying lymphatic abnormality. In addition, the complication rate was higher in patients with a geographic stain. The definitions were as follows. A geographic stain was extremely sharply demarcated, the shape was irregular (resembling a country or continent), and the color was dark red or purple in most cases. A blotchy or segmental stain had an indistinct border from normal skin in some areas, was often large with a segmental distribution, and was light pink or red-pink in color. Inheritance appears to be multifactorial, with a range of vascular malformations found in family members. If an arteriovenous ?stula is associated, the term Klippel - Trenaunay - Weber syndrome is used.

    Magnetic resonance imaging of the leg to detect arteriovenous malformation (AVM), and arteriogram if the MRI is positive or suggestive, has been advocated, although its necessity is debated. In one study of 22 patients, none had an AVM. The limb length abnormality should be evaluated by radiography. Leg discrepancy may be hidden by compensatory scoliosis. In one study, limb length discrepancy rarely increased after 12 years of age.

    A multidisciplinary approach to therapy is needed, involving an orthopedic surgeon, a vascular surgeon, and a dermatologist, especially one able to perform laser surgery. Compressive stockings are probably the best approach for symptomatic relief of pain and swelling. Vein stripping often fails to relieve symptoms and may make matters worse. A lymphedema pump may be used for severe edema. If surgical intervention is necessary, it should be done only by a specialist. For leg length abnormalities, shoe elevators and epiphyseal surgery to slow growth of the longer limb can be done. Some have recommended that patients with Klippel - Trenaunay syndrome avoid taking estrogens (e.g. oral contraceptives) because of the increased risk of thromboembolism and antithrombotic prophylaxis after any surgery. Venous malformations have been treated successfully by sclerotherapy, but this approach requires a specialist trained in using this modality for larger vessels. Color echo-Doppler ultrasonography-guided sclerotherapy with polidocanol microfoam has been very effective in treating the venous malformations of patients.

    Port wine stain of the leg usually does not respond well to pulsed dye laser, but occasionally it does, and one report suggested waiting 4 - 5 months between treatments.

Fig. 15.7 Klippel - Trenaunay syndrome. (a) This patient had unequal leg lengths, causing compensatory scoliosis. He suffered from recurrent cellulitis, presumably secondary to lower leg swelling and tinea pedis. Chronic low-dose penicillin prevented further bouts of cellulitis. (b) A congenital nevus flammeus (also known as port wine stain) along with ipsilateral hypertrophy of the bones and soft tissue occur together in this syndrome. An extremity is usually affected. Varicose veins develop later in the majority and can cause pain and swelling. (Panel b courtesy of Michael O. Murphy, M.D.

Cutis marmorata telangiectatica congenita

Congenital persistent cutis marmorata, skin atrophy, ulceration, telangiectasia, and phlebectasia may all be seen in cutis marmorata telangiectatica congenita (CMTC) (Fig.15.8). Many patients have no associated abnormalities, but body asymmetry, PWS, glaucoma, aplasia cutis congenita, and cleft palate may all occur. When macrocephaly is associated, the term macrocephaly cutis marmorata telangiectatica congenita is used. When the changes overlie an eye, glaucoma may be found. The cutaneous lesions may persist, improve, or resolve over time.

    The differential diagnosis includes the entirely benign entity cutis marmorata (Fig.15.9). This condition is a reticular red pattern of the extremities that represents physiologic variations in blood content of the skin; it is accentuated by cold temperature. Rarely, neonatal lupus may mimic CMTC.

Fig. 15.8 Cutis marmorata telangiectatica congenita. (a) A mild case with only reticulate erythema and slight atrophy. (b) More atrophy is apparent here. Note the reticulate pattern.

Fig. 15.9 Cutis marmorata on the hand of a newborn. This change is entirely benign.

Fig. 15.10 Blue rubber bleb nevus syndrome. Patients with this condition develop ultiple bluish or purple papules and nodules on all areas of the body. Lesions may range in size from several millimeters to several centimeters in diameter.

White/Cox: Diseases of the Skin, 2ed.(c) 2006, Elsevier Inc. All rights reserved.