Phakomatosis (or phacomatosis) refers to a group of rare genetic disorders that primarily affect the skin, nervous system, and eyes. These disorders are typically characterized by the development of benign tumors or malformations in these areas and are often present at birth or develop early in life.
Some common examples of phakomatoses include:
- Neurofibromatosis (NF) – Causes skin changes, tumors on nerves, and sometimes other complications.
- Tuberous Sclerosis (TS) – Leads to benign tumors in multiple organs, including the brain, skin, kidneys, and heart.
- Sturge-Weber Syndrome – Involves a facial birthmark (port-wine stain) and abnormalities in the brain and eyes.
- Von Hippel-Lindau Disease (VHL) – Associated with blood vessel tumors in the eyes, brain, and spine, as well as cysts and tumors in other organs.
The term “phakomatosis” comes from the Greek word “phakos,” meaning “spot” or “birthmark,” highlighting the visible skin manifestations many of these conditions share. Diagnosis and management often involve a team of specialists, depending on which systems are affected.
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