INTRODUCTION
Port-wine stain (PWS), so named due to its characteristic appearance of red wine spilled or splashed on the skin, is also referred to as nevus flammeus. It is the most prevalent type of congenital vascular malformations and increases in size proportionally with age, does not involute and persists for life. It is present in approximately 0.3%–0.5% of infants as a result of the interplay of various etiological factors, most commonly from abnormal morphogenesis characterized by dilatation of dermal capillaries and post capillary venules.1 Vascular endothelial growth factor (VEGF)-A and its receptor VEGF-R2 expressed in capillary malformation, so antiangiogenic treatment blocking VEGF may prove to be useful and be a future treatment option.2 Tyrosine kinase receptor expression along with its ligand angiopoietin-1 expression is also increased in lesional skin.3 Augmented hemoglobin content in the skin produces a color change.4 Histologically, PWS shows dilated vessels in the dermis without endothelial proliferation.5 The diameter of the vessels varies from 2 to 500 μm.6 Only 17% of PWS vessels show vasa nervorum in contrast to 75% in normal skin.7 There may also be a neural role, usually a deficiency of nerve innervation, that may be a cause of these abnormal hypervascular skin lesions.8
The genetic role is evident by a somatic activating mutation in the GNAQ gene (c. 548GA, pR183Q), which encodes a guanine nucleotide-binding protein G-alpha-q subunit. This seems to generate activation of extracellular signal-regulated kinase (ERK), c-Jun N-terminal kinase and P70 ribosomal S6 kinase.9 In addition, mutations of RASA1 have been demonstrated that are responsible for capillary and arteriovenous malformations and limb enlargement.10 In hypertrophic PWS, hamartomatous changes suggest a multilineage development field effects.11 PWS most commonly presents on the face and neck; however, it can occur anywhere on the body. The condition is associated with psychological stress and impaired quality of life. Importantly, PWS adjacent to eyelids is associated with early-onset glaucoma. Ophthalmic distribution (V1 dermatome) may be an indicator for Sturge-Weber syndrome, particularly if bilateral.12
PWS should be treated at early infancy.4 Previously, treatment options were cosmetic, radiation, skin grafting, dermabrasion, cryosurgery, tattooing, and electrotherapy. However, the benefit of these modalities is limited and none of these provided reliable cosmetic results as laser.
The genetic role is evident by a somatic activating mutation in the GNAQ gene (c. 548GA, pR183Q), which encodes a guanine nucleotide-binding protein G-alpha-q subunit. This seems to generate activation of extracellular signal-regulated kinase (ERK), c-Jun N-terminal kinase and P70 ribosomal S6 kinase.9 In addition, mutations of RASA1 have been demonstrated that are responsible for capillary and arteriovenous malformations and limb enlargement.10 In hypertrophic PWS, hamartomatous changes suggest a multilineage development field effects.11 PWS most commonly presents on the face and neck; however, it can occur anywhere on the body. The condition is associated with psychological stress and impaired quality of life. Importantly, PWS adjacent to eyelids is associated with early-onset glaucoma. Ophthalmic distribution (V1 dermatome) may be an indicator for Sturge-Weber syndrome, particularly if bilateral.12
PWS should be treated at early infancy.4 Previously, treatment options were cosmetic, radiation, skin grafting, dermabrasion, cryosurgery, tattooing, and electrotherapy. However, the benefit of these modalities is limited and none of these provided reliable cosmetic results as laser.
