Port-Wine Stain (Nevus Flammeus)

A PWS is a congenital capillary malformation that typically presents as a deep pink to reddish-purple discoloration of the skin on the head and/or neck.
Most of the time a PWS is an isolated lesion but it can be seen as part of a variety of syndromes.

A PWS presents at birth as a flat, well-demarcated, pink to dark red (“port-wine” color) blanchable patch most commonly noted on the face (Fig. 1.10).
PWSs are usually unilateral, but can be bilateral.
Lesions darken progressively and can become thickened over time. Some develop secondary proliferative nodules on their surface.
A PWS present in certain locations can be a clue to an associated syndrome (see Table 1.1 for a list). Two of the most common syndromes will be discussed below.

The diagnosis is made clinically.
Workup for an underlying syndrome association is based on the location of the PWS.

Differential Diagnosis

Early Infantile Hemangioma

Nevus Simplex

Ill-defined vascular patch usually located on central face or occipital scalp.
Lightens over time, and complete involution is expected.

Management

A complete physical examination should be performed to determine location and extent of PWS and if there are any other congenital defects.
If a PWS in a high-risk location (see Table 1.1) is identified, appropriate workup and referrals should be made.
Once a potential syndrome association has been ruled out, the PWS can be approached as a cosmetic issue.
The decision of whether and when to treat a PWS depends on its size, location, and the age of the child. Parents should be educated as to their natural history of persistence and gradual darkening and thickening over time. The potential psychosocial impact of the lesion (especially facial PWS) on the developing child should also be considered.
The treatment of choice is the PDL (585 to 595 nm) which targets oxyhemoglobin and destroys dermal blood vessels without damage to the epidermis.
Early and frequent treatment (every 2 to 4 weeks) of a PWS with the PDL can lead to significant and sometimes complete clearance.
The number of treatments needed to achieve clearance varies from >6 to 12. Parents will often stop treatments once cosmetically acceptable lightening has occurred.
Laser treatments can be performed in an outpatient setting with or without topical anesthesia or under general anesthesia, depending on the age of the patient and the location and extent of the PWS.
For PWS resistant to PDL, combination with other vascular lasers (i.e., potassium-titanyl-phosphate (KTP) or Nd:YAG) can often achieve excellent results.

Helpful Hint

The early initiation of PDL treatment can lead to complete clearance in infancy.

Sturge-Weber Syndrome

Basics

Sturge-Weber syndrome (SWS) is the association of: (1) aPWS on the face in the distribution of the first trigeminal nerve (V1) with or without involvement in the V2 and/or V3 distribution (see Fig. 1.10), (2) ipsilateral leptomeningeal vascular malformation, and (3) ipsilateral glaucoma.
The risk of SWS is determined by the distribution of the PWS—all patients with SWS have all or part of their PWS in the V1 distribution.
The overall incidence of SWS in patients with a PWS appearing in the V1 and V2 distribution is 8%, and the risk increases if multiple segments are involved or if the PWS is bilateral.

Clinical Manifestations

Seizures are the most common neurologic manifestations of SWS and usually present in infancy.
Glaucoma is the most common eye finding and can occur anytime from infancy through adulthood.
Children with SWS can also suffer from headaches, strokes, focal deficits, or have cognitive or behavioral impairments.

Diagnosis

All patients with a PWS in the V1 distribution should have baseline and at least yearly complete ophthalmologic examinations to determine presence of ocular involvement.
Although a CT scan may be better at picking up the typical cortical calcifications (“tram-track” calcifications), an MRI with gadolinium is the test of choice and first-line study for identifying the presence of intracerebral vascular anomalies.

Management

Management of patients with SWS is multidisciplinary. Patients should be followed by dermatology, pediatric neurology, and pediatric ophthalmology.
Seizures are usually treated with medications but occasionally require surgical intervention.
PDL may be used to treat the cutaneous PWS once seizures have been controlled.
Close ophthalmologic follow-up is required for early detection and treatment of glaucoma.

Helpful Hint

Referral to support foundations such as the Sturge-Weber Foundation (www.sturge-weber.com) is often beneficial to families of affected children.

Basics

Klippel-Trenaunay Syndrome (KTS) is the triad of: (1) a PWS located on an extremity, (2) underlying typical varicose veins, venous or lymphatic malformations (VMs or LMs), and (3) progressive hypertrophy of the underlying soft tissues and/or bone.
The diagnosis of KTS requires two out of the three features listed above.

Clinical Manifestations

The PWS associated with KTS are typically those that are “geographic” in shape which means that the borders are sharply demarcated resembling the outlines of countries on a map (Fig. 1.11) rather than those that are blotchy with smudgy borders (Fig. 1.12).
Prominent superficial veins or varicosities as well as soft tissue overgrowth will develop with age. Occasionally, bony overgrowth of the affected limb also occurs.
KTS may lead to localized intravascular coagulopathy and thromboses that result in pain and an increased risk of skin ulcers and pulmonary embolism.
Limb length discrepancy can lead to scoliosis and hip asymmetry.

Diagnosis

Infants at high risk for KTS should be followed closely for evidence of venous and lymphatic malformations and limb length discrepancy. Limb lengths can be evaluated clinically early on; later they can be assessed radiographically.
A color Doppler ultrasound of the affected extremity can determine the composition and extent of the underlying vascular malformation. Occasionally an MRI and MRA are needed.
A coagulation profile should be checked periodically to determine the presence of intravascular coagulopathy.

Management

The management of KTS is aimed at prevention of and surveillance for the known potential complications.
A multidisciplinary team involving dermatology, orthopedic and vascular surgery, and hematology is often required.
Compression therapy with stockings, elastic bandages or massage will reduce pain and limb engorgement in most patients with KTS.
The PWS and the cutaneous vascular blebs can be treated with laser therapy.

Helpful Hint

Referral to the Klippel-Trenaunay Support Group (http://www.kt-foundation.org/) is often beneficial for patients and families.

Outline
Sturge-Weber Syndrome
Klippel-Trenaunay Syndrome