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Examples

• Neurofibromatosis

Neurofibromatosis is a common example of phakomatosis because an individual with this disease will have brownish dermatology spots on their body. In addition, an individual with neurofibromatosis will have learning and behavior problems, hearing loss in young adults, and vision loss due to abnormal growths on the spine, and brain tumors on the optic nerve pathway. Neurofibromatosis is caused by an autosomal dominant disease. This means that an individual only needs one copy of the  mutated gene to become affected with the disease. This mutation is specifically a germline mutation in the NF1 or NF2 tumor suppressor gene. Neurofibromatosis is diagnosed through MRI or CT scans and genetic tests. The NF1 gene is a more mild version of the disease whereas NF2 is the gene that causes damage to the optic nerve, which can lead to more severe complication. There is no specific treatment for phakomatosis but individuals often go through surgery, chemotherapy, or radiation in order to help with the tumors. Neurofibromatosis has a prevalence rate of 1 in 2,500 live births and is more common in males than females. Furthermore, individuals with the disease are at a higher risk for early mortality.

• Tuberous Sclerosis

Tuberous Sclerosis is an autosomal dominant disease characterized by mutations in either the TSC1 or TSC2 genes, which both code for tumor suppressors. It falls under the category of Phakomatosis due to the presence of dermatologic abnormalities, retinal lesions, central nervous system deficits, and a variety of benign tumor growths. Tuberous Sclerosis affects all ages, races, and gender equally and is prevalent in 7-12 per 100,000 live births. It is most often diagnosed after the presence of seizure activity due to brain lesions or abnormal development. Currently the management of the disease is symptomatic.