PHAKOMATOSIS Meaning and
Definition
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Phakomatosis is a medical term used to describe a group of genetic disorders characterized by the presence of multiple benign tumors or developmental anomalies affecting various parts of the body. It is derived from the Greek words "phakos," meaning "birthmark," and "gnosis," meaning "knowledge."
These disorders are typically present at birth or develop during early childhood and can affect different organs and systems, including the skin, nervous system, eyes, bones, and blood vessels. Phakomatosis disorders are usually inherited in an autosomal dominant manner, meaning that a person only needs to inherit the mutated gene from one parent to develop the condition.
Examples of phakomatosis disorders include neurofibromatosis, tuberous sclerosis, Sturge-Weber syndrome, von Hippel-Lindau disease, and hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome). Each disorder has its own specific characteristics, but they all share the common feature of the development of multiple tumors or abnormalities.
Phakomatosis disorders can have a wide range of clinical manifestations and can lead to various complications, impacting an individual's physical, neurological, or cognitive function. Treatment options typically aim to manage symptoms and associated complications through a multidisciplinary approach, including medication, surgical interventions, and supportive care.
In summary, phakomatosis refers to a group of genetic disorders characterized by the presence of multiple benign tumors or developmental anomalies affecting various body systems. These conditions are typically inherited and require comprehensive management to address associated symptoms and complications.
Common Misspellings for PHAKOMATOSIS
- ohakomatosis
- lhakomatosis
- -hakomatosis
- 0hakomatosis
- pgakomatosis
- pbakomatosis
- pnakomatosis
- pjakomatosis
- puakomatosis
- pyakomatosis
- phzkomatosis
- phskomatosis
- phwkomatosis
- phqkomatosis
- phajomatosis
- phamomatosis
- phalomatosis
- phaoomatosis
- phaiomatosis
- phakimatosis
Etymology of PHAKOMATOSIS
The word "Phakomatosis" is derived from two Greek words: "phako-" meaning "lens" or "growth", and "-matosis", which denotes a condition or state. "Phakomatosis" is a medical term used to describe a group of diseases characterized by abnormalities in the eye or skin that are often present from birth (congenital) or appear early in life. These abnormalities can include tumors, birthmarks, or other structural abnormalities. The term was coined in the 1920s by a German dermatologist named Wilhelm Lutz.
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