The presence of the large red to purple, well-demarcated patches with a lateral predilection led the FP to diagnose a port-wine-stain.1,2
Port-wine-stains are a type of capillary malformation that fall under the over-arching category of “simple vascular malformations.”3 Occurring in approximately 3/1000 live births, port-wine-stains have no gender predilection and can occur anywhere on the body, however, 80% of cases are associated with the head and neck.1,4 Lesions tend to be present at birth and grow in proportion with the child.1-4 While port-wine-stains may lighten during the infant’s first year of life, they tend to darken and become more nodular with time.1,3-5 Darkening of lesions is thought to be due to a lack of neural input to the capillaries, leading to poor vascular tone and dilation.5
Port-wine-stains are often isolated and benign, but their presence may indicate an underlying syndrome. Two of the more common syndromes associated with port-wine-stains include Sturge-Webber syndrome and Klippel-Trenaunay syndrome.1,4
Sturge-Webber syndrome is characterized by a port-wine-stain in the distribution of the first trigeminal division (V1), with possible involvement of the second or third trigeminal divisions (V2 and V3).1,4 Central nervous system abnormalities are also characteristic of Sturge-Webber Syndrome and can include cerebral atrophy, leptomeningeal angiomatosis, and cortical calcifications that can cause seizures, mental retardation, and hemiparesis.1,2,4
Ophthalmologic complications of Sturge-Webber syndrome can include glaucoma, and are seen in 10% to 30% of patients with a port-wine-stain in the periocular region and in 30% to 70% of patients with leptomeningeal involvement.2 A larger facial distribution of a port-wine-stain correlates to a stronger association with Sturge-Webber syndrome.2
Klippel-Trenaunay syndrome is characterized by port-wine-stains on the lower extremities with limb hypertrophy and length discrepancy, varicose veins, lymphedema, and phleboliths.1,4 Diagnosis is typically clinical and based on physical exam findings. However, an elevated d-dimer, magnetic resonance imaging (MRI), or ultrasound may aid in confirmation. The MRI or ultrasound may reveal tissue hypertrophy and the associated vascular malformations.6
The differential diagnosis for a port-wine stain includes nevus simplex, another type of capillary malformation. Nevus simplex is the most common capillary malformation, occurring in up to 82% of newborns.2 Depending on the location, nevus simplex is also referred to as a “stork bite” (lesion on nape of neck) or “angel’s kiss” (lesion on forehead).2 Nevus simplex is distinguished from a port-wine-stain by a more central location, indistinct borders, and a pale pink to red coloring.2,3 Nevus simplex lesions tend to fade as the child grows, while port-wine-stains tend to darken.2,3
Port-wine-stains also can be confused with infantile or congenital hemangiomas, which were considered in this case. Congenital hemangiomas are present at birth, while infantile hemangiomas appear within the first few weeks of life.1,2 Superficial hemangiomas can be red and macular, and often have well-defined borders, which makes distinction from port-wine-stains difficult at times.1 Hemangiomas will typically go through proliferations and involution stages making them dynamic lesions, whereas port-wine-stains grow in proportion to the child.1,2
Pulsed-dye laser (PDL) treatments are the gold standard for treatment of port-wine-stains.1,4 PDL selectively targets the vascular chromophore, which minimizes the appearance of the vascular stain but can’t completely eradicate it.1,4 Treatment is generally initiated after 6 months of life.1 In this case, the patient was referred to Dermatology for a discussion of the benefits of PDL therapy.