Peripheral Neurofibromatoses is spelled [pəˈrɪfərəl ˌnʊrəʊfaɪbrəʊməˈtoʊsiːz] in the IPA phonetic transcription. The word consists of three parts- 'Peripheral', 'Neurofibromat' and 'oses'. 'Peripheral' is pronounced as [pəˈrɪfərəl], 'Neurofibromat' as [ˌnʊrəʊfaɪbrəˈmæt], and 'oses' as [ˈoʊsiz]. The term 'Peripheral Neurofibromatoses' refers to a group of inherited disorders that affect nerves outside the brain and spinal cord. These disorders are caused by mutations in specific genes and can lead to tumors, learning disabilities, and other health issues
Peripheral neurofibromatoses refer to a group of genetic disorders characterized by the development of multiple benign tumors, known as neurofibromas, throughout the peripheral nervous system. These conditions are caused by mutations in specific genes that regulate cellular growth and division, resulting in abnormal cell proliferation in nerve tissue.
There are several subtypes of peripheral neurofibromatoses, including neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis. NF1 is the most common form and typically manifests in early childhood, with symptoms including café-au-lait spots (pale brown birthmarks), neurofibromas, freckling, and skeletal abnormalities. NF2, on the other hand, is less common and causes the growth of tumors on the nerves responsible for hearing and balance. Schwannomatosis is the rarest subtype and is characterized by the development of multiple schwannomas, which are tumors originating from Schwann cells that form the protective covering around nerve fibers.
The manifestations of peripheral neurofibromatoses can vary widely between individuals, even within the same family. Symptoms may range from mild to severe and can affect various systems of the body, including the nervous system, skin, bones, and eyes. While these conditions are typically noncancerous, complications can arise due to tumor location and size, leading to functional impairment or compression of vital structures.
Treatment for peripheral neurofibromatoses primarily focuses on managing symptoms and minimizing complications. This may involve regular monitoring of tumor growth, surgical removal of symptomatic tumors, physical therapy, and interventions aimed at preserving hearing and vision. Additionally, genetic counseling is recommended for affected individuals and their families to understand the inheritance pattern and potential risks of passing the condition to future
The word "Peripheral Neurofibromatoses" is derived from the combination of three components: "peripheral", "neuro", and "fibromatoses".
1. Peripheral: The term "peripheral" comes from the Latin word "peripheria", which means "circumference" or "outer part". In medical terminology, "peripheral" refers to anything outside the central nervous system, such as nerves and tissues located away from the brain and spinal cord.
2. Neuro: The term "neuro" is derived from the Greek word "neuron", meaning "nerve". It is commonly used to indicate a relationship with the nerves or nervous system.
3. Fibromatoses: The word "fibromatoses" is a plural form of "fibromatosis". The term "fibro" comes from the Latin word "fibra", which means "fiber".