What’s that birthmark?

Ilona J. Frieden, MD

Birthmarks and skin disorders in newborns and young infants are common. Most are harmless, while others may be associated with significant extra-cutaneous disease. The decision of whether or not to take a family through the time, expense, and worry of assessing a birthmark often rests with dermatologists. Using a checklist approach to evaluate birthmarks can either offer a family reassurance that the condition is benign or support the need to move forward with additional testing and treatment.

Ilona J. Frieden, MD, of the University of California San Francisco, said such an approach serves as an important guide in evaluating common vascular birthmarks, evaluating key neonatal skin diseases, and identifying whether ancillary testing is needed for pigmented birthmarks, including nevi and disorders of hypo and hyperpigmentation.

“Many times, we have a good idea of what causes a birthmark. But, is an extensive evaluation right for all patients? And who is going to pay for it?” Dr. Frieden said. “In the case of genetic testing, it’s not usually covered by insurance just because we’re curious.”

Dr. Frieden and her colleagues, Barrett J. Zlotoff, MD, associate professor at the University of Virginia, and Renee M. Howard, MD, director of dermatology at Benioff Children’s Hospital in Oakland, California, led Friday’s session, “Is it Only Skin Deep? A ‘Checklist’ Approach to Diagnosing and Managing Birthmarks and Neonatal Skin Diseases” (F043).

The session reviewed a wide array of birthmarks and neonatal skin disorders, including the most common:

  • Segmental infantile hemangiomas
  • Congenital hemangiomas
  • Portwine stains and Sturge-Weber risk
  • Vascular stains and overgrowth
  • Mosaic harmartomas
  • Patterned pigmentation

Assessing, testing, and treating birthmarks is different for each type. This session guided attendees in making a specific diagnosis, evaluating the potential for extra-cutaneous conditions that could be associated with that diagnosis, and creating a “checklist” for each type to ensure appropriate disease-specific evaluation and care.

In every case, Dr. Frieden emphasized the importance of identifying the condition, developing a plan for what to do and when to do it, and determining the risk for extra-cutaneous conditions. 

Initial visit checklist

☐ Does this child have neurocutaneous melanosis (NCM)?

☐ Is there a melanoma?

☐ What are these weird lumps?

What is NCM?

☐ 50% who develop symptoms do so prior to the first year.

  • Most by 2 years of age
  • Another small peak at puberty

☐ Number of satellites most predictive

  • >20 satellites five-fold increase in risk of NCM
  • Three or more small or medium congenital nevi with no “mothership”

Imaging for NCM

Image if:

  • LCMN with 10 or more satellites
  • Three or more small or medium, congenital nevi
  • LCMN with posterior midline (+spine)

MRI of the brain

  • Ideally before 6 months of age
  • Try feed and swaddle to avoid general anesthesia
  • ? contrast
  • Spine, if possible, particularly if lumbosacral involvement

If positive

  • Close follow-up with pediatric neurology
  • Increased risk for melanoma

 

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