Port-Wine Stains: A Focused Review on Their Management

Nevus flammeus, or port-wine stains (PWS), initially misnamed as “flat hemangioma” and previously called “firemark,” are the second most common congenital vascular malformation seen in infancy. An estimated of 3 children per 1000 live births, or approximately 400,000 per year, will develop PWS birthmarks.¹ Although PWS have no sex predilection, they are much less common in Asians and African Americans.²

It is proposed that PWS develop due to irregularities in neural development (ie, axonal degeneration) and genetic mutations that may be familial or sporadic.^3,4 Studies have shown that biopsies of PWS specimen have a greater vessel-to-nerve ratio with overall decreased nerve density relative to normal skin.³ It has been proposed that irregular blood flow in PWS leads to chronic ischemia and results in further axonal injury and degeneration. Furthermore, the lack of neural modulation of blood flow results in worsening of ectatic vessels.⁴ Other dermatologic diseases have neuronal degeneration or loss as part of their pathogenesis but have widely different clinical presentations than PWS. For example, xeroderma pigmentosum (XP), which is characterized as a genetic disease that causes progressive neurologic deterioration with 10,000-fold and 2,000-fold increase in developing non-melanoma and melanoma skin cancers in early childhood, respectively.⁵ Additionally, skin biopsies from patients with vitiligo, an idiopathic disease that causes skin depigmentation due to the destruction of melanocytes, have also shown both axonal degeneration as part of its pathogenesis.⁶PWS typically occur in regions that are normally innervated by certain nerve branches, such as the trigeminal nerve, and show significantly decreased nerve fiber density compared to unaffected skin.^7,8 They present as well-demarcated, solid, pink, red or purple patches and can affect any part of the body; however, they frequently effect the head and neck area, particularly in a V1 and V2 dermatomal distribution.² Dilated capillaries and post-capillary venules in associated PWS lesions results in increased hemoglobin content in the overlying skin, which causes the deeply red to purple pigmented skin.¹Capillary malformations (CM) do not proliferate and thus do not grow, but instead they demonstrate chronic vascular dilation with possible gradual darkening and thickening over many years with or without treatment.⁹ The deep reddish purple to violaceous color created by the hemoglobin pigment appears like Port-Wine, which is where they inherited their name.^1,10It is important to differentiate PWS from other vascular tumors that may present during infancy or early childhood since the diagnosis may change treatment options and overall patient outcome. Some other vascular tumors include infantile hemangiomas, pyogenic granulomas, spider angiomas, venous malformations, and angiokeratomas which are summarized in Table 1.

Most facial PWS usually occur as isolated birthmarks, but up to 10% of PWS may be associated with Sturge-Weber Syndrome (SWS), a noninherited congenital vascular disorder. SWS is associated with facial PWS and underlying leptomeningeal capillary-venous malformation or choroidal malformation of the eye, which may lead to the development of neurologic or ophthalmologic complications in children with SWS. These