Birthmarks | Causes | Symptoms | Treatment

Birthmarks appear in newborn babies at the time of birth or shortly after. Birthmarks are abnormalities and growths that appear on the skin and can be vascular or pigmented birthmarks. It is yet to know what causes birthmarks, but some have a familial origin. Birthmarks usually do not require special treatment, but it is better to consult a registered medical practitioner for guidance.

Highlights

• Birthmarks are any marks that appear on the skin at birth or shortly after birth.
• Birthmarks can be pigmented birthmarks or vascular birthmarks, each having a different origin. Pigmented birthmarks appear due to pigment-producing abnormal skin cells called melanocytes, while vascular birthmarks appear due to abnormalities in blood vessels.
• Most birthmarks do not require special attention for treatment, but few require treatment such as laser therapy and surgery.

What are birthmarks?

Birthmark is any mark that appears on the skin at a birth time or soon after it. They are in various shapes, sizes, and colors and appear anywhere on the skin, such as on the face, scalp, thighs, arms, back side of the head, etc. Most birthmarks are temporary and disappear on their own at the age of two to five — only a few birthmarks are permanent, and they may change in size and shape over time in life. Sometimes, birthmarks require synthetic removal for cosmetic reasons: particularly those that appear on the face or arms. Birthmarks are usually harmless, but occasionally they represent underlying problems or diseases for which you should consult your doctor (Figure 1).

Causes of birthmarks

Depending on why they develop, birthmarks have two major types: pigmented birthmarks and vascular birthmarks. Pigmented birthmarks develop due to an overgrowth of cells called melanocytes that give color to our skin. They can be flatten or raised and brown to black or blue, mostly with irregular borders. Vascular birthmarks have association with abnormalities in blood vessels. Either too many blood vessels or larger than average-sized blood vessels are present in this case. Children with vascular birthmarks have a minor flaw that they live with, and approximately 50-60% of cases need treatment.

Figure 1. How birthmarks look internally.

Pigmented birthmarks are classified into moles (congenital Melanocytic Nevi), Congenital dermal melanocytosis (Mongolian spots), pigmentary mosaicism, and café-au-lait birthmarks.

1. Congenital melanocytic nevi: Congenital melanocytic nevi are the benign growth or clustering of melanocytes on the skin of newborns that appear at the time of birth or shortly after it. The congenital melanocytic nevi, also called moles, develop due to central nerves system (CNS) involvement, resulting in neurocutaneous melanosis (NCM). The NCM is a rare, non-inherited condition of CNS characterized by melanocytic nevi in the skin and brain. It develops into a giant melanocytosis in some people later in life. Research has found that only 2% of a child with NCM develop symptoms of delayed development, hypotonia, and questionable seizures, with no case of CNS or skin melanoma.
2. Congenital dermal melanocytosis: It is formerly known as Mongolian blue spots are blue or bluish-grey spots that develop at the time of birth and mostly appear at the base of the spinal cord, bottom, and shoulders. They have a blue appearance because of the Tyndall effect, which refers to light scattering through a particle in its path. Sometimes, people get confuse with congenital dermal melanocytosis and consider them a bruises, but they both are different. Bruises are painful upon touching and change their color, size, and shape within days, but congenital dermal melanocytosis is painless and takes 2-3 years to disappear. Congenital dermal melanocytosis develops when melanocytes (melanin-producing cells) of the embryo accumulate in the dermis layer of the skin and give rise to a blue or bluish-grey appearance after birth. However, it is still unknown why melanocytes trap in the dermis layer of skin during embryonic development.
3. Pigmentary Mosaicism: When a person has different genetic programming in two or more cells of a specific cell type at a specific site. For example, pigmentary mosaicism which refers to genetic abnormalities in melanocytes, resulting in different pigmentation at different intensities in the affected area. Though the cause is genetic, color does not usually appear at the time of birth; however, the affected area may become darker or lighter upon exposure to sunlight. Further, birthmarks resulting from pigmentary mosaicism are irreversible. Still, cosmetic solutions like makeup techniques can completely hid them, or less noticeable by sun protection techniques such as sunscreens.
4. Café-au-lait birthmarks: A French word meaning “coffee with hot milk” here refers to the light brown color of this birthmark. Café-au-lait is commonly flat, round to oval-shaped, with a smooth border. They have a size of less than a child’s palm. They are typically harmless, but if you have multiple café-au-lait spots, particularly five or more at different sites on a body. They may result in neurofibromatosis: a group of genetic disorders caused by mutations in genes that regulate the production of neurofibromin protein, and they can cause tumor formation anywhere in the central nerves system.

Vascular birthmarks are broadly classified into the following two types:

1. Hemangiomas: They are a type of birthmarks that are non-cancerous tumors. They can be infantile hemangiomas and congenital hemangiomas. As the name indicates, infantile hemangiomas usually appear in infants about 1-4 weeks after birth and take about three to ten years to revert to a normal state. They are red so sometimes also refer as strawberry marks. Congenital hemangiomas are rare; they appear in the womb before childbirth and stop growing after birth. They are round to oval-shaped and characterized by the abnormal growth and development of blood vessels at a specific site of the body, having tiny red blood vessels on the surface with white margins. Scientists believe that congenital hemangiomas occur when blood vessels of the placenta abnormally proliferate due to the production of specific proteins.
2. Vascular malformations: These malformations are benign lesions with characteristic slow growth of marks throughout life. They have further sub-types:

• Port wine stains: They are flat with pink to purple or red color appearance, present at birth. Port wine stains form due to uncontrolled “turn on” of chemical signals that trigger blood flow to the skin. Thus, resulting in extra blood flow to the skin that turns red. These chemical signals continuously produce due to genetic mutations: the cause of which is still unknown.
• Salmon patches: Other names for salmon patches include Nevus simplex, angel kiss (when present between eyebrows), or stork bite (when present in the back neck region). They look flat red or pink and are present in 80% of babies at birth. They are different from other vascular birthmarks by the accumulation leading to expansion of small blood vessels or capillaries. Salmon patches are on the forehead, back, neck, eyelids, top of the head, lower back, and under the nose. They become more visible when the baby cries. They are soft to touch and disappear upon compressing.
• Lymphatic malformations: Lymphatic malformation refers to the accumulation of lymph (fluid) in blood vessels. When stuck in the blood vessels, the lymph forms a rigid cyst that appears as small blisters on the skin surface that give them a birthmark appearance. Unlike venous malformations that are soft to touch and disappear when compressed, lymphatic malformations are rigid small cysts that do not continue developing.
• Arteriovenous malformations: These malformations occur due to abnormalities in blood vessels’ network. So blood flows directly from arteries to veins while bypassing capillaries. The cause of arteriovenous malformations is yet to explore. Because they are congenital and do not stop growing once they appear later in adulthood, scientists consider them birthmarks. When lesions are too large to thicken the blood vessels for increased blood supply. Arteriovenous malformations are very painful, and as they continuously grow bigger, they result in deprived nutrients and the removal of carbon dioxide from cells. The resultant mass is “nidus”. Signs/symptoms include heart failure, prominent scalp veins, and macrocephaly. Arteriovenous malformations are neither genetic nor likely to transfer from parents to offspring; however, a rare genetically transmitting familial syndrome called “Rendu Osler Weber Syndrome” has some origins that show its association with arteriovenous malformations.

Treatment

1. Pigmented birthmarks

These birthmarks usually do not require any treatment. Some pigmented birthmarks, such as congenital moles and, in some cases, café-au-lait birthmarks, require treatment. Congenital moles that progress to melanocytic nevi (giant mole) require surgical removal. While surgeons recommend laser therapy to treat café-au-lait birthmarks, but they often return.

1. Vascular birthmarks

Most vascular birthmarks fade away and thus do not require special treatment. Only a few vascular birthmarks require treatment. These birthmarks progress slowly, present in more visible regions, or may result in other health conditions (arteriovenous malformations). Doctors prescribe medications, laser therapy, surgery, and radiology (for embolization and sclerosis) to treat them.

Some children feel uncomfortable with port wine stains and hemangiomas, especially if they are present on the face or neck. Therefore, large and more visible hemangiomas are treated through injectable, oral, or ointment-type medications. In contrast, port wine stains are mainly treated with laser therapy to lighter them using a pulsed-dye laser. Sometimes port wine stains re-develop and require re-treatment. To bypass this situation, most children are treated in the infant stage when the stain and blood vessels are small. Similarly, special makeup techniques are also available to hide port wine stains.

Some vascular birthmarks like arteriovenous malformations can only be treated through surgery.