Phakomatosis
Phakomatosis
Phakomatosis (pronunciation: /fakəməˈtōsəs/) is a medical term that refers to a group of neurocutaneous disorders characterized by lesions in the central nervous system and skin. The term is derived from the Greek words "phakos" meaning "lens" and "matosis" meaning "condition of".
Etymology
The term "Phakomatosis" is derived from the Greek words "phakos" which means "lens" and "matosis" which means "condition of". This term was first used in medical literature in the early 20th century to describe a group of disorders that affect both the skin and the central nervous system.
Classification
Phakomatosis is classified into several types, including:
- Neurofibromatosis: A genetic disorder that causes tumors to form on nerve tissue.
- Tuberous sclerosis: A rare genetic disease that causes noncancerous (benign) tumors to grow in many parts of the body.
- Sturge-Weber syndrome: A neurological disorder indicated at birth by a port-wine stain birthmark on the forehead and upper eyelid of one side of the face.
- Von Hippel-Lindau disease: A rare genetic disorder that leads to the growth of tumors and cysts in the body.
Symptoms
The symptoms of Phakomatosis vary depending on the specific disorder. However, common symptoms include skin abnormalities, neurological problems, and the growth of noncancerous tumors.
Diagnosis
Diagnosis of Phakomatosis involves a thorough medical history and physical examination. Imaging tests such as MRI or CT scan may also be used to identify any tumors or lesions in the body.
Treatment
Treatment for Phakomatosis depends on the specific disorder and the severity of the symptoms. It may involve medication, surgery, or other therapies.
See also
External links
- Medical encyclopedia article on Phakomatosis
- Wikipedia's article - Phakomatosis
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