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Phakomatoses
Phakomatoses, also known as neurocutaneous syndromes, are a group of multisystemic diseases that most prominently affect structures primarily derived from the ectoderm such as the central nervous system, skin and eyes. The majority of phakomatoses are single-gene disorders that may be inherited in an Dominance (genetics), autosomal dominant, Dominance (genetics), autosomal recessive or Sex linkage, X-linked pattern. Presentations may vary dramatically between patients with the same particular syndrome due to Mosaic (genetics), mosaicism, variable Expressivity (genetics), expressivity, and penetrance. Many phakomatoses are caused by mutations which alter functioning of the MAPK/ERK pathway, RAS–mitogen-activated protein kinase (MAPK) pathway and the PI3K/AKT/mTOR pathway that regulates cellular growth, differentiation, proliferation and death. This results in a tendency for individuals with these mutations to develop various types of benign or malignant tumors depending on the par ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neurofibromatosis
Neurofibromatosis (NF) refers to a group of three distinct genetic conditions in which tumors grow in the nervous system. The tumors are non-cancerous (benign) and often involve the skin or surrounding bone. Although symptoms are often mild, each condition presents differently. neurofibromatosis type I, Neurofibromatosis type I (NF1) is typically characterized by Café au lait spot, café au lait spots (light-brown flat patches of skin), Neurofibroma, neurofibromas (small bumps in or under the skin), scoliosis (side-way curvature of the back), and Headache, headaches. neurofibromatosis type II, Neurofibromatosis type II (NF2), on the other hand, may present with early-onset hearing loss, cataracts, tinnitus, difficulty walking or maintaining balance, and muscle atrophy. The third type is called schwannomatosis and often presents in early adulthood with widespread pain, numbness, or tingling due to nerve compression. The cause is a genetic mutation in certain oncogenes. These c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
