Medicogramalmost 5 years ago

NEUROFIBROMATOSIS: Neurofibromatosis (NF) is a genetic 🧬 abnormality that affects the cell growth of neural tissue, leading to tumor growths over the entire nerve fibers of the body that impact the skin, nervous system, eyes and other organs. 🔹TYPES OF NF: NF is divided into two primary groups: neurofibromatosis type 1 (NF1), also known as von Recklinghausen or peripheral neurofibromatosis; and neurofibromatosis type 2 (NF2), also known as bilateral acoustic neurofibromatosis and central neurofibromatosis. ↪️ This very specific clinical finding is associated with neurofibromatosis type 1 (NF1), also called von Recklinghausen's disease, a rare genetic disorder characterized by the development of multiple noncancerous (benign) tumors of nerves and skin (neurofibromas) and areas of abnormally decreased or increased coloration (hypo- or hyperpigmentation) of the skin. It is one of the most common genetic disorders and affects 1 in 3,500. Adults develop neurofibromas, which are noncancerous (benign) peripheral nerve sheath 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. 🔹CAUSE / GENETICS 🧬 OF NF: 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. 📷: @medicogram #neurofibromatosis #cancer #benigntumor #oncology #medicine #health #surgery #clinical #hospital #medicogram