Mastocytosis

We recently learned that Liam has a rare skin disorder called Mastocytosis. He has a version called Cutaneous mastocytosis, Uticaria Pigmantosa. This means he has several spots that are confined to the skin. It is a disorder that causes him to produce an abundance of mast cells that clump together and form spots on his skin. Most of the time, these spots are light brown, smooth, and don't cause any issues, but when they are triggered, they can become raised, form blisters, and release histamines. He can break out in hives and become agitated. He will most likely deal with itching and discomfort throughout his childhood.

We first noticed the spots on Liam at around 3 months. Spots started appearing on his scalp. Because he didn't have much hair, it was easy to see the light brown spots. At his 4 month check up we showed the doctor, but she was not worried. She said babies get all kinds of spots and they typically go away, so we would just watch them.

As time went on, more spots appeared and they were not going away. Spots were now on the back of his neck, on his back, arms and legs. The doctor continued not to be worried, so we tried to ignore it, but it was becoming obvious that something was going on.

Besides the spots, Liam seemed to be sick more than not. He always seemed to have runny eyes and nose. He has had more upper respiratory viruses than I can count, and developed wheezing when he is sick. He was given a nebulizer so we could do breathing treatments at home. I was worried about him, but in the end, he remained happy even when sick, so we continued to talk to the pediatrician but did not worry too much.

At 9 months, we finally were able to get the doctor to call in a dermatologist. She came in, looked at the spots, and sadi we should be referred to dermatology. A week later, we saw a dermatologist who within 5 minutes diagnosed him with mastocytosis based on a darrier test. This is a test where he scratches the surface of a spot with his pen. The spot became very red and started to blister leading to the diagnosis. In order to be 100% sure, he said we could do a biopsy.

At first we were not sure we wanted a biopsy, but then decided it would be best to have the diagnosis in case we ever had issues with insurance. Sure enough, the biopsy came back positive.
We had already been doing some research about the disorder. There is no cure, but they can treat symptoms with antihistamines and other meds as needed. The disorder seems to clear up on its own during adolescence...

Since the biopsy, we have had several cases of hives. We are trying to figure out what causes them but so far nothing. I think it is the environment. Heat is a common trigger and we have had some hot days. Stress is another trigger, so when he gets mad, he can cause himself to have a reaction...

After a lot of persistence from me, we were referred to an allergist. She seemed really interested and was helpful in that she did allergy testing, gave us printouts of common triggers, prescribed us an epipen since stings seem to cause a larger reaction in masto patients.

I still feel like the doctors do not really understand the disorder. Most of them have only read about the disorder and never treated it. The allergist said this was her second case in 30 years. The dermatologist said he had seen it once before and the pediatrician has never seen it.... I am trying to educate myself so I can drive his medical care.

I joined a website called Mastokids.org I can now interact with other parents dealing with this disorder and learn from them and ask for advice. It has been such a releif to have this resource. I am glad we are not alone.

As I mentioned. he has broken out in hives several times over the past month. We are not sure why, but continue to track. Today when we went to pick him up from daycare, they pointed out a blister on his head. It is raised and filled with liquid. This is the first time we are seeing a blister reaction without a doctor causing it. We gave benadryl and are now watching it....

I feel like this will be a neverending battle but we will learn much along the way. I am going to try to update this page as we progress. If anyone who is dealing with this disorder finds this blog, please do not hestitate to contact me.

I am realizing that spots are a part of who he is and that makes them beautiful!