Milk coffee spots in babies, is it a “memory” or a “disease”?

  Shortly after birth, some babies have brownish patches of varying shades and sizes on their bodies. The color of these spots resembles the color of coffee mixed with different proportions of milk, so it has a very imaginative name, called Cafe-au-Lait.  Experienced parents or elderly people will tell the new parents that this is a “birthmark” and there is nothing to worry about. As a result, most cafe au lait spots that grow on non-exposed areas do not cause much concern to parents. In the vast majority of cases, this is perfectly true. Although not as common as Mongolian spots (close to 90% of the Chinese population), milk coffee spots are the second most common “birthmark”, with a prevalence of 10-20% in the population. Therefore, the appearance of milk coffee spots is usually not a cause for concern.  However, certain special manifestations of milk coffee spots may not be “marks”, but early manifestations of “diseases”. So what are the circumstances under which milk coffee spots need to be taken seriously, there are probably the following situations: 1. If the number is more than 6, then we should be alerted. Generally speaking, if a newborn baby has 6 or more milk spots with the longest diameter greater than 0.5 cm, the possibility of neurofibromatosis should be highly suspected.  2.Large area of milk coffee spots: large area of milk coffee spots can be seen in neurofibromatosis, Albright syndrome, or possibly pigmented gross epidermal nevus instead of milk coffee spots.  3. Highly irregular edges or bounded by the midline: If the edges have an irregular appearance similar to the coastline, or if the milk coffee spots are strictly bounded by the midline of the body, Albright’s syndrome should be highly suspected.  4. Combination of multiple freckle-like dots: Mostly seen in neurofibromatosis or Legius syndrome.  When the above manifestations of milk coffee spots appear, it is recommended to consult a doctor specialized in hereditary dermatology to identify whether it is a “memory” or a “disease” and take the necessary tests to clarify the diagnosis as soon as possible, so as to reduce unnecessary psychological burden.  One of the most common diseases combined with milk coffee spots is neurofibromatosis, which is a relatively common genetic skin disease that most commonly manifests itself as milk coffee spots before puberty. Many parents believe that their children should not have neurofibromatosis because they do not have this disease. In fact, in addition to being autosomal dominant (50% chance of transmission to the next generation), nearly half of all neurofibromatosis is disseminated, i.e., there is a de novo mutation in the gene (neither parent has a genetic abnormality and the child has a genetic variant). Therefore, the absence of a family history is not a basis for excluding neurofibromatosis. It is recommended that children with suspected neurofibromatosis be seen as early as possible so that a clear diagnosis can be made for the child and early intervention can be made if necessary to avoid serious complications.