It is one of the most common concerns that parents will have on newborns. At the same time, you might be amazed as to how a paediatrician will be attracted to certain marks on your child's skin. There are many marks that are benign but others may be associated with certain conditions that warrant further evaluation. Today, we will briefly discuss marks on the skin. Of course, a discussion like this would be useful with pictures but we will try to make the best description with words due to copyright restrictions.
As you know, the skin is the largest organ in the body. In medicine, dermatology is actually a sub specialty after training in internal medicine and paediatrics. So the skin is important and like the title states: it can speak volumes.
Now let us get to the crux of the matter. Marks on the skin at birth can vary in colour, size, location and texture. It can be red, pink, black, coffee, brown and blue. Yes I did say blue! The sizes vary from a few millimeters to covering the entire chest back and trunk and it can be flat or raised.
In the Asian and Caribbean population, there are some blue marks which are normal. It is termed Mongolian spots. These are flat, bluish discoloration of the skin usually on the buttocks and lower back. These are normal and can be easily misinterpreted as child abuse by the practitioner from a country that do not see these spots in their population. Mongolian spots usually fade with time and it is nothing to worry about.
It is a common local myth in Trinidad and Tobago that "If a mother does not get what she wants in the pregnancy, then the baby will get a birth mark". Of course, our society loves myths and although there is no evidence to support such a claim, it makes for a nice conversation when a paediatrician finds a brown spot on the child's back or belly. I am amazed every time a grand mother tells me the story of a mother who wanted a fruit and her husband did not get it for her.
We shall now move from blue to brown. Brown marks can be normal in the majority of cases. For all those who like to "google" things, there is a term that you may come across called "cafe-au-lait" spots when looking at skin marks.
Cafe au lait spots are flat marks that are the colour of coffee with milk (see image). It is normal in the majority of individuals to have one or two, but you may be surprised that your paediatrician may get attracted to them. Your child's doctor would be interested in the size and the number of them. The reason for this is that if a child has at least six cafe au lait spots greater than 5mm then this would warrant further evaluation and examination for a condition called Neurofibromatosis Type 1 or NF1.
Neurofibromatosis Type 1, is a genetic condition that is caused by a mutation in the chromosome 17. NF1 is not contagious. It is autosomal dominant, which means that if one parent has NF1 then each child has a 50% chance of getting NF1 and that is how the condition spreads from generation to generation.
NF1 involves multiple cafe au lait spots- more than 6 of them at least 5 mm in the pre pubertal child and >15mm in the pubertal child. There can also be freckling of the skin under the armpits and the groin, which looks like a collection of small dark-brown moles. There are also some noticeable button-like bumps on the skin, which can be numerous and huge. These are called neurofibromas. They are generally benign but needs to be followed up to ensure that they do not become cancerous. There are other potential complications of this condition which can require an opthalmologist, paediatric surgeon or even an orthopaedic surgeon as the bones can be weak and fracture, producing false joints.
Cafe au lait spots can also be associated with other conditions. One of these is called Mc Cune Albright syndrome. This is a very rare condition in which the cafe au lait is large and can extend half of the upper body but never crosses the midline of the spine or breast bone. It usually has a jagged edge and is described as a "coast of Maine" appearance. Maine is the most north easterly state of United States of America that lies on the boundary of Canada. It has a very jagged shoreline to the Atlantic Ocean with multiple small breakaway islands. See link for an image of Maine's coast: https://www.visitmaine.net/page/122/maine-map.
Mc Cune Albright syndrome has bony defects and hormonal issues resulting in early puberty and would require multiple specialists like an endocrinologist and orthopaedic surgeon.
Cafe au lait spots can also be present in many other conditions, which I will list, but do not be alarmed. If you spot one on yourself this does not mean that you are sick. As I mentioned earlier, the majority of cafe au lait spots are harmless and exist in the general population with no disease.
Cafe au lait can also be seen in the following conditions (but they are not diagnostic of these syndrome like how it is used in NF1 above):
Ataxia telangiectasia
Russell- Silver Syndrome
Tuberous sclerosis
Bloom syndrome
Noonan syndrome
Multiple endocrine neoplasia
That's enough about coffee with milk. As you can see a colour on your skin can really tell a story!
Let us move to the red spectrum. There are some red marks that are benign in neonates. These include: erythema toxicum, stork marks or salmon patches.
Stork marks or salmon patches are usually reddish discoloration to the skin along the forehead, eyes and nasal bridge. They are nothing to worry about as they usually fade with time. This is a beautiful picture of a stork below showing the salmon color on its face and around its eyes.
Erythema toxicum are reddish blotches on the skin that appears on the baby after a couple of days. It can spread to the chest and abdomen but usually fades away after a couple weeks. These do not require treatment. However, if your child is unwell with fever then this should warrant a review by your paediatrician.
Another red mark that is present in babies but can be of concern is called haemangiomas.
These vary in size and shape and location. They are usually bright red or cherry red in colour and can be flat or raised. They can be round and have the texture of a strawberry.
That is why it is sometimes dubbed "strawberry naevi".
Haemangiomas are abnormal growth of blood vessels. They usually enlarge in the first year of life and then reduce in size. Sometimes, they would need removing if it obscures the vision or if it extends into the airway.
Large haemangiomas around the face can be part of a rare syndrome called PHACES which stands for:
- Posterior fossa abnormalities (in the cerebellum of the brain)
- Haemangiomas (usually large facial ones) - Arterial anomalies (arteries in the brain)
- Cardiac defects (heart problems)
- Eyes defect
- Sternal cleft (whole in the breast bone)
Most haemangiomas however just require observation over time.
Moving on to another colour- pink. Port wine stain is a pink discoloration present at birth and can be on the upper face around the eye and forehead on one side. It is flat and can be normal or associated with a syndrome called Sturge-Weber syndrome. Sturge-Weber syndrome is associated with seizures and glaucoma and requires follow-up for such.
Then there is the colour black. This can be simple moles that we all know about or can be massive and cover huge areas of the body in a condition known as giant congenital melanocytic naevi. These are at risk for malignant transformation and require close follow up by a dermatologist for life.
So as you can see, birthmarks on the skin can tell a wide story. We looked at the colours: coffee with milk, blue, red, pink and black. We did not discuss white and there are a couple other conditions that I did not discuss- one of which is Tuberous Sclerosis. Maybe I will touch on them briefly in my future post. Stay tuned...
Remember if you see a birth mask on your child's skin do not hesitate to show it to your paediatrician as it may be significant.
Dr. Zafir W. Latchan
BMedSci. (Hons), MBBS, PGDip. Paediatric Emergency Medicine (Dist)
MRCPCH (Lon)
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