To date, this is the most important piece I have ever written. Most important because our family can now embrace Mermaids disease with a true diagnosis and make constructive but cautious decisions about our future with the right information.
We have so much to share you might want to pause here and move somewhere comfortable…
This week we not only received the long anticipated biopsy results but got to meet Mermaid’s new dermatologist and I must say, she was a ray of sunshine in our cloudy little nevus world.
The next sentence is my favorite collaboration of word’s I have ever put to print. MERMAID DOES NOT HAVE CANCER. There is always that higher potential of cancerous cells developing in nevus owners but we are officially free & clear at this time. To be fair, we knew that piece a few weeks ago. Our Primary Care Dr. let us know but we wanted the final reading before sharing. Needless to say I slept a smidge better the night we found out.
Here is our official biopsy reading:
Exam demonstrates aconthotic and hyperkeratotic epidermis with focal dyskeratosis. The differential includes linear epidermolytic epidermal nevus and epidermolytic acanthoma.
So what does this mean? Officially, this means that Mermaid has linear epidermal nevus, which occurs in 1 out of 1,000 people. However, the rare subtype of epidermolytic hyperkeratosis only occurs in 1 out of 2/300,000 people worldwide.
There is a grey area, we cannot yet rule out ILVEN. The biopsy site did not show the specific subtype but Mermaid has had several occurences that I was able to photograph and share with her new dermatologist. She agreed it was inflammation and said it may in fact be an early onset of ILVEN. We will wait and see what the nevus does from here on.
I know not everyone understands what this means so I’m going to break it down a bit more.
Linear epidermal nevus (LEN) is an uncommon skin condition. It usually affects the limbs and torso on one side of the body. The lesions are typically present at birth. LEN is the result of a genetic abnormality. It is not inherited but arises from somatic mutations in cells that occur after conception.
Linear epidermal nevus follows the lines of Blashko, which are invisible on the skin but thought to follow the paths which cells migrate as the skin develops before birth.
LEN can be linked to complications such epidermal nevus syndrome; abnormalities effecting brain, internal organs, eyes or bones. Tumors can also arise within the lesions. They may be harmless and simply need removal or may be a form of skin cancer.
We can happily report that as of this moment Mermaid does not harbour any of said abnormalities. All our tests and check ups thus far have come back clean.
If she does indeed develop ILVEN the potential treatment options and complications change a bit but the two are extremely close in comparison.
We were also told at our visit that Mermaids chances of developing a Wilm’s tumor are very unlikely as she would have already developed some of the other abnormalities effecting the organs. (I wont personally celebrate until her 6th bday!)
Mermaid occasionally gets small lesions on her scalp which we were asked to come in and have swabbed next time they occur. We were also able to discuss the possibility of Mermaids overheating being correlated. This is more common with giant nevus but it may be that Mermaids sweat glands are not working correctly in the area of her nevus. We cannot say definitively this is or is not the cause as there is no way of knowing for sure and we will continue to monitor it.
From the beginning of this journey I have been plagued by the thought of my Mermaid being teased or self-conscious about her “birthmark”. As we have learned more about her disease and gotten to know fellow Nevus owners that fear has only grown. The emotional effects can be devastating for Nevus owners of all kinds.
We have been lucky thus far that Mermaids nevus is mostly unseen by others with the exception of her arm & hand. Mermaid is very protective of her hand and rarely lets me photograph or touch it. At our appointment it was noted that her nevus is starting to come up over her palm. I can pray this doesn’t happen but on the chance it does I was FINALLY able to have that conversation about what treatment looks like in the future.
In the future, our dermatologist offered a form of cauterization in office that can help flatten and smooth the skin. We discussed both the pluses and deltas of co2 with a decision to avoid that route and of course, the talk of removal.
On the chance Mermaid’s nevus continues to thicken on her hand and move over her palm we will need to take action. At school age we will go through with removal. This can be done by our healthcare system here opposed to out of state which we originally thought.
This decision is based not only on a cosmetic and emotional basis but on the grounds of physical irritation it has caused.
I feel like it has been a struggle to get to a place where we understand our path moving forward; but we have arrived.
Our dermatologist is supportive of our trials, we will see her once every 6 months unless needed sooner. If Mermaid inflames on a more chronic basis or develops the spots on her scalp we will return. We will monitor her body temperature and physical discomfort, being conscious of potential tumors. In a few years we will revisit the surgical options and until then, we will continue our journey with LEN.
I know that our recent decision to find new care and push for more solid diagnosis and treatment information will free me from so much fear.
To all you rare and beautiful nevus owners, we hope our struggles to find the right care and options brings you a sense of direction and understanding.
Thank you to everyone for supporting us up to this point.
Thanks for walking with us today,