It often happens that parents save their worst worries for the end of a medical visit.Â They don't do this on purpose, I think.Â It just takes time for the worry to surface, and for the parents to gather the courage to put their fears into words.Â Usually, this worry is the most important thing in the visit. The case of a bothersome birthmark is a good example: Sophie*, a healthy 6 month baby was brought in for a routine check up.Â With her were her mother and father, and mother's sister. The first doctor to examine the baby and talk with the parents was one of our residents, a competent and conscientious young woman who had completed her MD two years ago.Â After spending nearly 20 minutes with the family, the resident summarized the case for me, her supervisor."This is a healthy 12 month old girl," she began, detailing all the ways in which Sophie was doing well - eating, sleeping, walking, babbling, and so on.Â The one concern the parents had was a birthmark on the side of the child's face.Â The resident described the mark as a grayish discoloration with normal skin texture, irregularly shaped, about 2 inches in diameter, located on the right temple near the hair line.In pediatrics, such a birthmark is called a "hyperpigmented macule."Â Hyperpigmented means simply that there is more skin pigment in this particular region than in the rest of the skin.Â Macule is the medical term for a spot that cannot be felt, because it is flat, as opposed to a spot that is raised up or sunken down. Hyperpigmented macules used to be called Mongolian spots, I guess because they reminded someone of Mongolia in some way (medicine still has some of those silly, outdated terms floating around.)Â Mongolian spots show up most often on the back and buttocks; over time, they tend to fade while the rest of the skin darkens.Â In a few years they are rarely noticeable unless you look hard.Â The bottom line is, they are harmless.Â They don't cause disease and are not linked to any illness.Â They are something we pediatricians notice, reassure parents about, and move on.Sophie's spot was in an unusual location, but in every other way it appeared to be a typical hyperpigmented macule.Â In short, No big deal.Â But, after a few moments with Sophie, I could tell that it was a big deal for this family.
Â I began my examination of Sophie by remarking on how bright-eyed she was, how she studied me with interest, and a little bit of apprehension (appropriate for her age).Â After checking me out, and looking back to her mother for reassurance, Sophie deftly reached for my stethoscope and gave it a tug. Â The look of concentration on her face turned to a shy smile, and the smile turned into a giggle. Sophie's parents were clearly entranced, as I was.Then I mentioned the birthmark, and right away I could sense a change in the room. In unison, Sophie's mother, father, and aunt leaned forward, concern on their faces.Â And all my attempts to educate them about hyperpigmented macules seemed to fall on deaf ears.The reason soon became clear: Â A few years ago, Sophie's parents had lost a child to a rare disorder called Sturge-Weber disease.Â Sturge-Weber is a condition in which blood vessels form abnormally in the brain, resulting in destruction of brain tissue on one side, with severe seizures and mental retardation, and sometimes, death.Â One of the hallmarks of Sturge-Weber is a very distinctive reddish-purple birthmark, overlying the upper part of the face on one side, just where Sophie had her birthmark.It wasn't hard, after that, to point out that the faintly grayish patch on Sophie's temple was really very different from the livid purple and red mark that had covered the upper half of her brother's face. Medically, there is no connection that I know of between these two very different appearing birthmarks.Â One is a caused by an overgrowth of abnormal blood vessels, the other is due to the activity of pigment-containing skin cells-vnt systems, biologically.Â I think that the similarity in location was simply coincidence.Â But it certainly makes sense why Sophie's parents would be worried.Â I would have been, too.