Brooklynn's Dermatology Appointment

Check off another specialist on the list of follow up doctors for Brooklynn. Today we went to go visit a dermatologist due to her cafe au lait spots. She weighed in at 34 pounds, and is 37 inches tall. Her blood pressure was 88/54, so where it should be.We go in and Brooklynn put a gown on. They took her medical history. They looked at her skin. Dr. Newell took a Hood Lamp (I think that's the name of it) and took a look at her skin - it's a purple light that helps these cafe au lait spots pop out. They found 7 spots, all measuring >5mm. He said they were very light and not very noticeable. However, they did find 7, and anything greater than 6 is a cause for further investigation. He is going to present her at a radiology conference so they can take a look at her head scans - I guess sometimes there are certain bones in the face that are characteristic of what Brooklynn MAY have.What they are looking for is a thing called neurofibromatosis type 1. It's a genetic (I think) syndrome that can just pop up out of nowhere, or it can be something passed on. In order to get that diagnosis, you have to have 2 characteristics. Right now she only has one which is the 6 or more cafe au lait spots measuring >5mm. There are a few other criteria which can't be ruled out quite yet. Some other criteria is freckles in the underarms and groin, which can develop later in life. Also, neurofibromas which are tumors that are located on or just under the skin mostly in nerves, which also can develop later in life. If there is a family member who has it that would also be a criteria. There are also things that can develop on the eyes called Lisch nodules and tumors that can grow on the optic nerve.She doesn't have any of the symptoms listed above as of yet. I guess there are times when older people don't even know they have this until they have a family member who is diagnosed, and therefore that can't be 100% ruled out, but luckily we don't have any of this in our family that we know about. So now we have a referral to opthalmology where they will take a look at her eyes. This will be a big appointment - if they don't find anything than there is only a low risk that she has this disease. If they do find something, however, it is a good likelihood she has this disease, because than she would have met 2 of the criteria. Some other characteristics of this is scoliosis, macrocephaly or large head (as we all know she has this), high blood pressure, and short stature. Next week, we have the ophthalomology exam. So here's hoping they find absolutely nothing in her eyes.