Updated: 12/16/2021

Port-Wine Stain

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  • Snapshot
    • A 5-week-old girl is brought into the pediatrician’s office for evaluation of a birth mark. According to her mom, this red birthmark has been present since birth and has not really changed. Physical exam shows that she has a pink-to-purple macular patch involving the left cheek. The lesion is unilateral with a sharply demarcated border along the facial midline. Her parents are counseled about the fact that this lesion may persist for her entire life. A referral is made to a pediatric dermatologist for potential pulsed dye laser therapy.
  • Introduction
    • Clinical definition
      • a type of benign capillary malformation that presents as a purplish “port-wine” colored birthmark on the face and neck
        • also known as nevus flammeus
    • Genetics
      • Sturge-Weber syndrome
        • inheritance pattern
          • autosomal dominant
        • mutations
          • GNAQ
          • activating mutation
    • Associated conditions
      • Sturge-Weber syndrome, also known as encephalotrigeminal angiomatosis
      • glaucoma
        • especially with periorbital port-wine stains
      • eczematous dermatitis
  • Epidemiology
    • Incidence
      • < 1% of newborns
    • Demographics
      • commonly involves newborns
      • most common vascular malformation of the skin
    • Location
      • face and neck
    • Risk factors
      • family history
  • ETIOLOGY
    • Pathogenesis
      • caused by ectatic superficial papillary dermal capillaries characterized by vascular dilatation and no proliferation
      • thought to result from
        • neural deficiency of sympathetic innervation of the blood vessels
        • ↑ vascular endothelial growth factor (VEGF) inducing vasodilation
  • Presentation
    • Symptoms
      • persistent purple or dark red birth mark present on face since birth
      • asymptomatic
    • Physical exam
      • in childhood
        • pink, red, or purple flat macular patch with well-demarcated borders
        • blanches somewhat with external pressure
      • in adulthood, lesion may
        • progress to deep-red or purple
        • become raised and papular with cobblestone-like surface
      • location
        • most lesions are in one of the divisions of the trigeminal nerve
        • typically unilateral
  • Imaging
    • MRI with gadolinium
      • indication
        • if Sturge-Weber syndrome is suspected
  • Studies
    • Making the diagnosis
      • a clinical diagnosis
  • Differential
    • Capillary hemangioma
  • Treatment
    • Conservative
      • cosmetic cover-up
        • indication
          • if lesions are a source of psychological stress for patients
    • Procedural
      • pulsed dye laser therapy
        • indications
          • first-line treatment
          • if lesions are a source of psychological stress for patients
          • can lead to lightening of port-wine stain without any scarring
  • Complications
    • Cosmetic disfigurement and associated psychosocial impairment
  • Prognosis
    • Port-wine stains are present at birth and do not spontaneously resolve
    • Lesions become thicker and darker with increasing age
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