Tag Archive | colobomas

Eye see you…

Let’s talk about the connection between Epidermal Nevus and ocular abnormalities. Right out of the gate I  want to clarify that a diagnosis of Epidermal Nevus in any form without one or more of the potential abnormalities is the disease itself. To be classified as having the syndrome you must have additional abnormalities. Additionally, there are different types of syndromes depending on what form of epidermal nevus one has and what abnormalities are present. This has caused a lot of confusion and controversy in the medical world. I see the term used interchangeably all the time, causing additional anxiety but have clarified with multiple physicians that the absence of any abnormalities does not classify as the syndrome. I for one, am the first person to recognize that the diagnosis itself carries enough anxiety provoking elements and issues without any abnormalities that making sure I understood the difference was vital.

It is also important to remember that the sydromes are rare and chances increase with wide spread lesions.

Ocular abnormalities may include Colobomas of the pupil, iris or eyelid and Cataracts.

A coloboma is a hole in one of the structures of the eye, such as the iris, retina, choroid, or optic disc. The hole is present from birth and can be caused when a gap called the choroid fissure, which is present during early stages of prenatal development, fails to close up completely before a child is born.

Colobomas are sometimes referred to as keyholes due to their shape. They can effect one or both eyes.

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There can also be an association with colobomas of the eyelid. This would be the result of incomplete cell migration and present at birth.

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A cataract is a clouding of the lens of the eye that can make it harder for you to see. Cataracts happen when protein builds up in the lens of your eye, making it cloudy. This prevents light from passing clearly through the lens, causing some loss of vision. There are many causes including, age related, from trauma, congenital – meaning born with it, or secondary – which can be due to other medical conditions.

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I have searched and searched and cannot seem to find a solid answer to whether or not cataracts would be present at birth only or can develop at a later age but I have an upcoming appointment and will be sure to ask.

Oregon Health and Science University told us that it is recommended to have eyes of nevus owners checked by age one. Where some of the abnormalities would be obvious to the naked eye, others are not.

I downloaded a pediatric neurology book that speaks in more detail about the syndromes and hope to find more valuable information to share soon.

To all our new followers and newly diagnosed nevus owners we hope you find this useful!

Thanks for walking with us today,

Mermaid’s Mommy

 

 

 

Can Mermaids see in the dark?

Armed with starbucks and Tom Petty we headed off in the typical PNW drizzle for an appointment with our normal dermatologist.

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The main reason for the visit was discuss treatment options for several spots that seem to bother my mermaid. Particularly a chunky spot on her wrist. Im not always certain that at 2 years old she really knows what pain is but she says owie and picks at it. Despite it being painful it seems to be growing and she asks me to take it off.

Our dermatologist consulted with some specialist at OHSU and nixed my original inquiry about co2 treatment. The down side is that it can leave scarring, have a painful recovery and really is not removing the nevus. Their suggestion was to have extraction done. The conversation always comes up that at such a young age that would require sedation. They recommended we wait until puberty to have the surgery done unless things drastically change for the worse.

The second recommendation was that we have an appointment with an opthamologist. ENS (epidermal nevus syndrome) is a rare congenitally acquired syndrome characterized by the presence of epidermal nevi and various other developmental abnormalities. One of which can be an ocular abnormality Such as a colobomas of the eyelid, iris and retina, corneal opacities and cataracts. Colobomas are found in about 0.5 to 2.2 cases on 10,000 births.

The good news is that even if cataracts orcolobomas are present, they may not effect her vision.

Regarding my #1 fear of the Wilm’s tumor I was told no imaging is needed, at well checks her Dr. Will palpate her abdomen and to watch for blood in her stool. The statistics show about 1 in 10,000 children are effected and her risk factor slightly raises the bar but its one of the fears I have to let go of. If it happens it happens and we will deal with it at that time.

So now where does our journey take us? Well, in a few short weeks we will see the eye Dr. And get answers there.

In the meantime I was given a slew of products to try on her hand to eliminate the roughness and appearance And one I purchased on my own.

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The Amlactin creams have whats called glyceryl stearate in them which is found naturally in animal and vegetable fats.

I am going to give each product a 2 week trial. I will take before and after pics of those 2 weeks to see if their is a visible improvement and note behavioral changes as well.

First up will be my personal choice of the Argon oil milk & honey soap. It is made up of olive, coconut, RSPO certified palm & argan oils, farm fresh goats milk and local honey. It is made here in Portland, OR. You can check out their products at http://www.camamusoap.com2015-05-12 15.35.16

I feel as though every time I understand my daughters disease another potential issue arises but thats why I am here, to educate myself and others alike on what this walk will look like.

As we continue to move through our journey I again thank all of you for reading and supporting us. I am striving to find all the best treatments for my Mermaid and continue to encourage her to embrace her special scales. Her dermatologist encouraged me today to have conversations with other parents she goes to school with to elimate questions or fears of what it is and I plan to do just that, starting with you 😉

Thanks for walking with me today,

Mermaids Mommy