Those of you that have been following us since day One, know that we have had our ups and downs with our healthcare system regarding Mermaid’s nevus. For the most part we feel taken care of and have access to care in many forms. However, we do not have access to a pediatric dermatologist or one who specializes in “Genetic skin diseases”; which has left us perplexed at times and receiving a variety of responses and care plans that range from aggressive to very passive. Several years ago I requested to see a specialist at Oregon Health and Science University and was denied. In recent months Mermaid has developed new spots and symptoms that sent us searching for another avenue to make our way up the hill.
This past week, our persistence and patience paid off. At the recommendation of a fellow Nevus Mommy’s pediatric Dermatologist on the East Coast, we got our day with Dr. Kroll. A pediatric Dermatologist that specializes in genetic skin diseases. Leading up to today I knew what we wanted answered specifically and got those answers, plus some. The main concerns I wanted addressed were… What are these new spots that don’t appear to be nevus? Will she have to have surgery at school age? Despite the biopsy not showing ILVEN, is it still a possible diagnosis? and what is her real risk factor for a Wilm’s Tumor?
I will start with what we learned followed by the answers to our questions and then our treatment plan.
Mermaid’s main diagnosis was Epidermolytic Hyperkeratosis (EHK) with Linear Epidermal Nevus (LEN). We have always focused on the LEN and put little to no thought into the EHK, aside from it being a bit more rare than the LEN. Well, news to us… the EHK comes with its own potential complications. We learned that sometimes, a female with EHK on one side of the body may have it on that parallel ovary. If/when she chooses to have children she runs the risk of passing on that gene in a full body form called Ichthyosis to her children. This is a small possibility, studies have shown that it’s a 2-10% chance but we were advised to have her be seen in genetics as a late teen to further discuss this and they hope with medical advancements that they will have a test to better diagnose whether or not the disease is actually on her ovary.
He felt certain that she does not now, nor ever will she, have any of the larger complications of her LEN resulting in the syndrome. Those symptoms typically arise at a very early age, with the exception of potential learning disabilities such as delayed speech, which has never been an issue, trust me – she speaks just fine and knows more than she should to be only 4! He reminded us that any small lump beneath the skin should be checked as there is a risk for squamous cells to develop.
As we already knew, he reiterated that there is no effective preventative medical treatment, we should see the extent of her disease by puberty and along the way there are two different laser treatments that may help in minimizing some of her nevus but the only true treatment would be complete excision with the trade-off of scars.
With some new and old but reassuring information we got the chance to clarify some of our burning questions…
What are Mermaid’s new spots that don’t appear to be nevus?
Unfortunately, Mermaid got cursed with two genetic diseases. What we originally thought was eczema, then a potential reaction to a soy allergy has now been confirmed as Psoriasis.
At the time of her appointment Mermaid had roughly 27 spots like the one above spanning head to toe. Including her face. If you saw our previous post about the mystery spots, it was also confirmed that the scales beneath her eye are Psoriasis.
Will she have to have surgery at school age?
The long and short of this question is still, we don’t know. The area of concern is Mermaid’s hand. Her Nevus grows thickest at her wrist and top of her left hand. This is also the only area that has cracked and bled. When her Nevus breaks open she is at risk of further infection. It can also cause pain and limited movement when it grows over the joints. His initial feeling is no, we will NOT be doing surgery next year. This was a huge relief, the thought of putting my child under and performing a very painful excision at such a young age was worrisome. The reason we cannot get a direct yes or no to the surgery question is that Mermaid’s form of Nevus grows with no rhyme or reason and putting a definitive answer on the future is nearly impossible. If it remains as is or has only a small amount of growth we are in the clear. If it grows extensively in the next year we run a higher chance of following through with surgery. One of my fellow Nevus Mommy friends shared pictures and experiences of her daughter’s hand surgery and it truly broke my heart. She is incredibly strong and did great but it was far from a pleasant experience for her or Mom. Please, please, please… keep your fingers crossed!
Despite the biopsy not showing ILVEN, is it still a possible diagnosis?
In the big scheme of things the difference in diagnosises is minimal and doesn’t mean a whole lot. So why would I care? Up until now, I have been told that ILVEN can be treated with steroids to reduce discomfort, redness and inflammation. I have asked before about using it for her bothersome areas but was told it is not a treatment used for LEN. Being seen on the hill was my goal because they are the specialists and just as I originally suspected, he said that even IF another biopsy showed ILVEN, it would NOT change the treatment plan. He stated that ILVEN & LEN are treated the exact same and we would begin treating it today.
and last but certainly not least… That lingering fear since Day one of her diagnosis…
What is her real risk factor for a Wilm’s Tumor?
The very first day Mermaid was diagnosed we were told point-blank that we needed to be aware of something called a Wilm’s tumor, childhood kidney cancer. She would be at risk until age 5. Since that day I have probably prayed harder than any Mom out there for her 6th birthday. I have vowed it would be the party of the century because that day, she would no longer be at risk and I could lay my anxieties surrounding this cloud to rest. Along the way the other dermatologists did not all agree but they also didn’t dispel the possibility. Nobody seemed to have numbers or facts supporting it so we continued to be aware.
Dr. Kroll finally put a stop to the worry. He seemed a bit surprised as we told him about this and very matter of fact stated that he has never heard this, especially in an otherwise healthy child without the syndrome. He said that if she had some of the big components of the syndrome such as one side of her body being larger or boney structures there may be a study or two to support a link, but in her case, No.
I’m sure you can imagine both my frustration and relief. Letting go of my frustration was easy, after all; this is why we pushed to be seen there.
So overall we learned of some potential side effects Mermaid’s EHK, that LEN & ILVEN can be treated the exact same, that we will continue to watch her hand’s growth over the next year, that she is now the proud owner of EHK, LEN, AND Psoriasis and best of all, that the risk of a wilm’s tumor is no higher than that of any other child.
Up until now we have not treated her skin issues in any way. We have done a few prescription strength creams such as Nystatin and 1% Hydrocortisone but mostly use home remedies to doctor what we can. That has all changed.
Hanging on my fridge is a crazy calendar marking out what medications need applied what day. We are starting a retinoid called Tazorac to be used specifically on her wrist and hand 2-3 times a week, Triamcinolone Ointment for her torso twice daily and Tacrolimus Ointment on her face and neck 5 days on 2 days off.
In one month we will re-evaluate its effects and create a plan from there. It’s a lot, it feels slightly daunting but I am beyond thankful that we are finally beginning a treatment plan and hopefully bringing her some relief. I am also thankful for our amazing insurance that covered the $750 cost of a months medications.
I have no doubt that in a few short weeks we will be reporting about success!
Moving forward we will now be followed @ OHSU for annual check ups and any major changes. For non urgent concerns and medication refills we will still utilize her other dermatologist. It feels like we are finally on a satisfying path.
Stayed tuned for happy updates!
Thanks for walking with us today,