History: A 8-month girl was brought to Dermatology OPD by her mother with a diffuse reddish macular lesion on the right side of her face present since birth. Lesion was smaller, lighter in colour & gradually increased in size. What’s the diagnosis?
Intro: Port wine stain (nevus flammeus) is a discoloration caused by a capillary malformation in the skin. Named after fortified red wine from Portugal.
Cause: Mutation in GNAQ gene on chromosome 9q21 & RASA1 gene. Associated with Sturge-Weber syndrome or Klippel–Trénaunay-Weber syndrome.
Types: Nevus flammeus nuchae, Midline nevus flammeus.
CF: Flat & pink asymptomatic macular patch usually seen at birth or may be acquired. Color may deepen to a dark red or purplish color in adults. Common sites are face, head, neck, abdomen, legs, or arms.
Dx: History based, skin biopsy, MRI Brain (R/O Sturge–Weber syndrome).
Rx: Pulse Dye or Nd: YAG or KTP Laser, surgery excision, radiation, tattooing, rapamycin LA. If left untreated, these vascular lesions may deepen in color or may undergo hypertrophy & nodular thickening.