Legius syndrome
Legius Syndrome
Legius syndrome (pronounced: lee-gee-us syndrome), also known as Neurofibromatosis type 1-like syndrome is a condition that affects many parts of the body. The syndrome is characterized by changes in skin coloring (pigmentation) and the growth of benign (non-cancerous) tumors along nerves in the skin, brain, and other parts of the body.
Etymology
The syndrome is named after the Belgian geneticist, Dr. Eric Legius, who first identified the condition in 2007. The term "syndrome" is derived from the Greek word "syndromē," which means "concurrence of symptoms," or "running together."
Symptoms
People with Legius syndrome often have multiple café-au-lait spots, which are flat patches on the skin that are darker than the surrounding area. These spots are often present from birth or appear in the first few years of life.
Other features of Legius syndrome can include freckling in the armpits and groin, macrocephaly (an unusually large head size), learning disabilities, and attention deficit hyperactivity disorder (ADHD).
Genetics
Legius syndrome is caused by mutations in the SPRED1 gene. This gene provides instructions for making a protein that helps regulate cell growth and division (proliferation) and the process by which cells mature to carry out specific functions (differentiation).
Diagnosis
Diagnosis of Legius syndrome is based on clinical features and confirmed by genetic testing. The genetic test involves sequencing of the SPRED1 gene to identify a mutation.
Treatment
There is currently no cure for Legius syndrome. Treatment is symptomatic and supportive, often involving a team of specialists. Regular follow-up visits are recommended to monitor for potential complications.
See Also
External links
- Medical encyclopedia article on Legius syndrome
- Wikipedia's article - Legius syndrome
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