Where Do Birthmarks Come From? The Mystery Behind them.

If your birthmark sports pink, red, or purple hues, it's likely a vascular birthmark. These typically manifest as those pink-, purple-, or red-colored skin markings appearing shortly before or after birth. In contrast, pigmented birthmarks are present at birth and span a spectrum of colors from brown or black to bluish or blue-gray. Let's unravel the mystery behind birthmarks.

What kind of Vascular birthmarks are there?

• Hemangiomas:

Strawberry hemangiomas

Cavernous hemangiomas

• Port-wine stains

• Salmon patches

• Sturge-Weber syndrome
  

Port-wine stains and Sturge-Weber syndrome arise from genetic mutations occurring before birth. Specifically, it's a somatic, mosaic mutation in the GNAQ gene, affecting small blood vessels called capillaries in select body cells. This mutation primarily manifests in endothelial cells, which line blood vessels and regulate exchanges between the bloodstream and tissues. Disruption in endothelial cell signaling leads to angiogenesis, resulting in capillary overgrowth and visible skin discoloration. Port wine stains typically emerge at birth, and are the rarest (less than 1 percent of people are born with them). While permanent, do not go away, and gradually, over the years, they usually darken and thicken they do respond to laser and topical therapies.

Further mystery behind birthmarks.

Approximately 1 in 50,000 newborns with port-wine stains develop Sturge-Weber syndrome (SWS), marked by symptoms like glaucoma, seizures, and developmental delays. Discovering this gene mutation holds promise for improved treatments for both conditions.

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What types of Pigmented birthmarks are there?

• Congenital melanocytosis (Mongolian spots)

• Pigmented nevi and Congenital nevi (moles)

• Cafe-au-lait spots (light tan or light brown)

• Congenital Nevomelanocytic Nevus (hairy nevus - also caused by a somatic mutation)

• Vitiligo ( sometimes mistaken for a birthmark but is really a caused by a chronic autoimmune condition that develops over time and causes a lack of a pigment or melanin in the skin.
  

All of these except for vitiligo arise from an overgrowth of pigment-producing cells in the skin and are typically benign, although multiple cafe-au-lait spots may signal neurofibromatosis, a genetic disorder.

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When is medical attention for birthmarks crucial?

If you ever start to notice any concerning changes in birthmarks or unusual skin changes, such as bleeding, thickening, numbness, itchiness, swelling or enlargement. See a doctor, as early detection and treatment can greatly impact outcomes.