“Inherited Condition with Many Birthmarks” | Legius Syndrome | Symptoms, Diagnosis, Treatment

“Inherited Condition with Many Birthmarks” | Legius Syndrome | Mutation, Symptoms, Diagnosis, Treatment

Legius Syndrome is an autosomal dominant, inherited condition involving multiple café au lait macules or spots (a type of birthmark) with other associated findings. Legius syndrome is similar to the condition known as Neurofibromatosis Type 1, although Legius syndrome is caused by a different gene mutation. Legius syndrome would be considered a RASopathy, affecting the RAS pathway. Legius syndrome, like Neurofibromatosis Type 1, causes multiple café au lait macules and skin-fold freckling; however, Legius syndrome does not cause the formation of neurofibromas. In this lesson, we discuss the mutation that causes Legius syndrome, the signs and symptoms and associated problems (including learning difficulties), how it’s diagnosed and how it’s treated.

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JJ

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