Capillary Malformations

"Port Wine Stain"

1. Essentials of Diagnosis

• Present at birth
• Distribution remains constant, although the color may darken
• Overlying skin is unaffected as a child but this may change in adulthood with the development of a nodular skin surface and ectatic dermal vessels
• CMs must be differentiated from the commonplace fading macular stains of infancy, which are referred to as stork-bite, angel kiss, or salmon patch
• Lesions roughly follow cutaneous sensory nerve distributions

2. General Considerations
CM is the most common of the vascular malformations and occurs in .3% of newborns. These lesions are sometimes referred to as port wine stains or neveus flammus.

3. Pathogenesis
It has been theorized that improper sympathetic neuronal control of the capillaries leads to the chronic dilatation of dermal capillaries and their development into ectatic vessels. This is supported by the clinical observation that these lesions roughly follow cutaneous sensory nerve distributions. Although there are several publications suggesting an autosomal dominant mode of inheritance with variable penetrance, this is not observed in most clinical situations.

4. Clinical Findings
Although usually not associated with other abnormalities, a CM may point to other associated problems. A facial capillary vascular malformation in the ophthalmic distribution of the trigeminal nerve may indicate the patient has Sturge-Weber syndrome. This syndrome is a congenital condition consisting of the aforementioned cutaneous vascular malformation associated with a similar malformation of the underlying meninges and cortex. Children with Sturge-Weber syndrome are at increased risk to develop seizures, glaucoma, as well as soft-tissue and bony overgrowth in the midface. Children with a capillary malformation located in the V1 division should have an MRI scan of the brain and screening ophthalmologic exams. Capillary malformations are sometimes associated with other vascular malformations and in these combined situations are recognized as syndromes. A CM which overlies a deep venous and or lymphatic malformation of the extremity is referred to as Klippel-Trenaunay syndrome. The overlying skin is often involved with ulceration and infection. The underlying bone becomes overgrown, adding to the limb hypertrophy, often necessitating surgical intervention. A CM, which overlies a deep high-flow arterio-venous malformation is referred to as Parks-Weber syndrome. Lumbo-sacral capillary malformations may be a clue that spinal cord abnormalities exist and should be investigated. A telangiectasia is a type of CM. The best-known form of telangiectasia is hereditary hemorrhagic telangiectasia or Osler-Weber-Rendu disease. The malformation first manifests in the capillary beds and progresses to capillary venous shunting. These manifest in the skin and mucous membranes, as well as the lungs, liver and brain. Nosebleeds and gastrointestinal bleeding are common. This disease is now genetically understood.

5. Differential Diagnosis
The typical CM must be differentiated from the commonplace fading macular stains of infancy (i.e. stork-bite, neveus flammeus, etc.). These lesions, in contrast to the true capillary malformation, will fade by the age of one year. These lesions are usually seen in the nuchal region, the eyelid, the glabella or the lips. Syndromes associated with CM should also be considered as discussed above, to name only a few, including: Sturge-Weber syndrome; Klippel-Trenaunay syndrome; and Parks-Weber syndrome.

6. Complications
Skin changes and Bleeding: If untreated a significant percentage of patients will manifest a change in the surface appearance of the skin. The skin can become nodular, and the increasingly dilated and ectatic dermal vessels may spontaneously bleed.

7. Treatment
It has become clear from clinical experience the treatment of choice for a capillary malformation is laser photocoagulation. Both cosmetic improvement and the prevention of complications in adulthood are possible with laser therapies. These often require multiple treatments and are more efficacious when started early in life. The flashlamp pulsed dye laser is reported to give 50-70% response rates. These rates range from complete to partial resolution.2

In the instance of a previously untreated adult patient with progression of the lesion to a nodular appearance, with troublesome bleeding, skin grafting may be necessary.