Cutaneous neurofibromas associated with neurofibromatosis
A 35-year-old lady with a ton of cutaneous neurofibromas associated with neurofibromatosis!! Neurofibromatosis type 1, NF-1 in short, is a condition characterized by changes in skin coloring (pigmentation) and the growth of tumors along nerves in the skin, brain, and other parts of the body. Adults develop neurofibromas, which are noncancerous (benign) tumors that are usually located on or just under the skin. Many have also multiple café-au-lait spots, which are flat patches on the skin that are darker than the surrounding area. NF-1 is caused by a mutation of a gene on the long arm of chromosome 17 which encodes a protein known as neurofibromin, which is a negative regulator of the Ras oncogene signal transduction pathway. When Ras isn’t regulated, it is overexpressed. These are a family of proteins that are involved in cellular signal transduction. A cascade effect occurs when ras is “switched on” by incoming signals, leading to activation of other proteins, which, in turn, activate genes responsible for cell growth and differentiation, hence leading to neurofibromas. Due to their benign nature, neurofibromas should be surgically excised only when symptomatic. Photo credit @sanjaygautam44
You should probably also excise them when asymptomatic. For the patients' comfort and physical appearance.
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