2) To explain the dark spots on Kai's back and the greyish brown dots in his eye, Neurofibromatiosis type 1 (NF1) could be an answer. NF1 is a common genetic disorder that causes noncancerous tumors on the nerves, skin discoloration, and developmental disorders. This condition occurs 1 in every 2,500-3,000 kids and symptoms begin to appear around the age of 10. The NF1 gene in the DNA has a mutation that does not allow it to suppress tumor growth as it is supposed to. NF1 is also not a fatal disease however, there is no cure. Treatment mainly includes monitoring the symptoms, taking medications, and/or surgery. To test to see if this is what is causing the dark spots, I would have Kai see a clinical specialist (most likely a geneticist) to confirm that this condition is a genetic disorder.

Kai could also have Seborrheic Keratosis, common, noncancerous clusters of darker spots. These spots are also slightly raised which can correspond to the bumps on Kai's skin. To test for this condition, Kai should go to a dermatologist. The dermatologist will then examine the spots and possibly do a biopsy to identify if he has skin cancer instead.

Another diagnosis could be Xanthelasma. This is when there is flat or slightly raised yellowish patches near the corners of the eyelids. Kai's optometrist shared image of spots found on Kai’s eyes. To test for it, I would order a proper eye examine and get a blood test done because xanthelasma is strongly associated with high cholesterol, a lipid profile.

2. Another diagnosis could be a tumor which is starting to develop. It could be a tumor because the results from the MRI show that the bumps are solid not filled with fluid. This could be tested by taking a blood test and I would also order a biopsy which takes his cells or tissues and examines them. Also, I would order a CT scan to see if there is any irregular masses or tissues near where the bumps are found or on them.

2. Kai Rossi could have a form of diabetic retinopathy that causes the spots in his eyes with his family having a history of diabetes he could inherit it causing the spots in his eyes. I would have him perform a glucose test to see weather of not he does have a form of diabetes that causes the spots on his eyes, and I would also want to perform a CBC to see how his blood has been and see if there are any abnormalities in his blood.

1. Neurofibromatosis type 1 is likely in Kai because dark spots, pigmented spots, headaches, being hyper and problems focusing are all signs of neurofibromatosis type 1. Following steps I would take for Kai Rossi would be to check for armpit freckling which is a common sign of Neurofibromatosis type 1, and counting the amount of spots that Kai has.

2.ADHD could be present, because Kai has trouble focusing in school and has constant headaches which are signs of ADHD. Also, this is very common in children who have neurofibromatosis type 1. Following steps for this would be to question parents and teachers about Kai's behavior and perform psychological testing for Kai.

3. Another possibility could be optic pathway glioma which is an eye related issue. These vision problems can also create headaches and are often related to neurofibromatosis type 1. Optic pathway glioma is when there is a benign tumor, so I would refer Kai to an ophthalmologist to test for this through an ophthalmology evaluation.

2. Another possible diagnosis for Kai is Neurofibromatosis Type 1 (NF1). NF1 can be defined as a genetic disorder that affects cell growth causing usually begin tumors and skin spots. NF1 can also affect the eyes and nervous system. Kai has brown spots on his body and spots in his eyes. His MRI imaging results also showed his bumps to be solid masses. Genetic testing will be needed to confirm this diagnosis.

1. The first possible diagnosis for Kai Rossi is Neurofibromatosis Type 1. This is because symptoms occur during childhood, there are brown flat skin spots, spots on the iris, and also has learning disabilities, like ADHD, which is what he has symptoms for. This can also include short stature which includes Kai, because he is 3'7" as the average 7 year old is 4' tall, so on the shorter side of 7 year old boys. There can also be soft non-cancerous tumors under the skin which all describes what Kai has. What I would do to test and see if this diagnosis is correct, is to genetically test the NF1 gene, because this condition is determined by a mutation in the NF1 gene.

2. Another possible diagnosis for Kai is Schwannomatosis. This is a more rare form of Neurofibromatosis, and it is associated with developing multiple benign tumors under the skin. This condition can also cause headaches which is what Kai also has. This is less likely though, because most diagnosed with this, are over 30 years old, although this is still possible with a 7 year old. In order to see if Kai has this, he would need an MRI and genetic testing like the first potential diagnosis.

Both diagnosis' need an MRI and genetic testing to really determine which disease Kai has, if it is one of these. It is more likely that Kai has Neurofibromatosis Type 1 than Schwannomatosis because it aligns more with the symptoms Kai has.

Juanita Blanchard

2. Another diagnosis for Kai's unexplained bumps, is cancer, particularly skin cancer. In the case of possibly having skin cancer it is important to undergo an MRI to confirm the suspicion. In this case, Kai Rossi had an MRI scan taken, and by looking at the results, the bumps that appeared on his skin, seem to be masses that do not contain any fluid in them, further solidifying the idea that these bumps could/ are signs of a tumor. More tests are to be done to depict specifically what type of tumor this could be, whether it is benign or malignant. If the further testing and biopsy examinations result in the conclusion of these bumps (tumors) are malignant, then it is important to continue undergoing tests to identify how far in the has tumor spread throughout the body and where it has affected. It is important to keep watch of the bumps, looking at any significant growth, discoloration, size changes, border changes/ irregular borders, and etcetera, as well as the spots on the eyes and the darker skin patches.

1) One diagnosis concluded from his symptoms is Neurofibromatosis type 1 known as (NF1) which is a genetic disorder caused by a mutation on chromosome 17. The disorder leads to noncancerous tumors along the nerves which would explain why Kai is energetic and cannot keep still in class. Symptoms of (NF1) are brown patches, soft bumps on or under the skin, and Lisch nodules which is spots in the iris of the eye.

2) The second diagnosis concluded from his symptoms is Tuberous Sclerosis Complex (TSC) which is a genetic disorder caused by mutations in the hamartin or tuberin protein genes causing noncancerous tumors to grow in the brain, eyes, skin, and etc. TSC symptoms are skin abnormalities and behavioral issues like autism or ADHD. Kai's parents mentioned how he has trouble sitting still in school and has trouble focusing which could be because of his possibility of having he has autism or ADHD from TSC. Also the bumps under the skin near the knee relates to the skin abnormalities linking to TSC.

To get further information, Kai would need to get a referral from his doctor to the dermatologist for the patches and bumps on his skin, and an ophthalmologist to get his eyes check out. He would also need to get a biopsy done just to make sure whether his tumor is malignant or benign. He could also get an ultrasound to look at his soft tissues. He should also try to get an EMG to evaluate nerve and muscle function.

Possible Differential Diagnosis

1) A possible diagnosis for Kai Rossi is Neurofibromatosis type 1 (NF1). Neurofibromatosis type 1 is a genetic condition that causes changes in skin pigment and tumors on nerve tissue. The tumors are not cancerous, known as benign tumor, however they can become cancerous. NF1 is very rare and is usually diagnosed before the age of 10 years old. A symptom of NF1 is ADHD which could also be the reason for his attention problems in school. More symptoms include flat light brown spots on the skin which Rossi has, soft pea-sized bumps on or under the skin called neurofibromas. Rossi's unexplained bumps could be neurofibromas caused by NF1. NF1 is also causes people to be shorter than normal, which also relates to Rossi because he is 3' 7" and the average height of a 7-year-old is 4'. Tiny bumps called Lisch nodules which are bumps on the iris of the eye is another symptom of NF1, this could explain the dark spots on Rossi's eye. Lots of Rossi's symptoms and traits align with the diagnosis of NF1. To officially confirm Rossi has NF1 he must undergo genetic testing, NF1 is caused by an altered NF1 gene on chromosome 17. Genetic testing allows for the viewing of the NF1 gene, so you can see if it is altered. Genetic testing is easy and only requires a salvia or blood sample.

2) Another possible diagnosis for Kai Rossi is Juvenile Xanthogranuloma. Juvenile Xanthogranuloma is a rare benign skin condition caused by the proliferation of histiocytes. Juvenile xanthogranuloma is common in young children and is characterized by firm yellow, red skin nodules that occasionally effect the eyes. These symptoms are fairly consistent with the bumps and spots in the eyes shown by the patient Kai Rossi. The next step would be to confirm this diagnosis by a biopsy of the bump on the skin. The biopsy would be studied to look for a certain cell prominent in juvenile xanthogranuloma.

Another possible diagnosis is Lipomas, which are benign tumors made of fat tissue that can occur as soft bumps under the skin. This is a possible diagnosis because Kai has solid masses under his skin as confirmed by his MRI. Lipomas also correlate with his other symptoms, as if they grow near nerves, they could cause headaches or discomfort. To test for it, he would need a further physical examination to determine if the bumps feel soft and movable, diagnosing for a certain type of lipomas, an ultrasound to determine if the masses are made up of fat tissue, and a biopsy to confirm that the cells are fatty tissue.

Another possible diagnosis is Tuberous Sclerosis Complex (TSC). TSC is another genetic disease. The bumps on his leg could be benign tumors that form on or under the skin. The dark spots on his skin are also a symptom of TSC. TSC can also cause retinal hamartomas which explains Kai's dark spots in his eyes. Sometimes children with this condition can have learning difficulties such as Kai. Headaches are also a symptom. This disease can also occur spontaneously in children without showing in parents. For this disease, doctors should use MRI or CT scan to detect tumors.