Legius syndrome

Legius syndrome is a rare genetic condition that primarily affects skin pigmentation. People with Legius syndrome tend to have multiple café-au-lait spots. In some cases, there may also be freckling in the armpit or groin areas. The condition is sometimes referred to as NF1-like syndrome, which highlights its similarity to neurofibromatosis type 1, though the two disorders are distinct. This syndrome is considered uncommon and is identified through its skin findings. The primary characteristic is the presence of café-au-lait spots, which are light brown patches on the skin. Although these skin changes are the hallmark of Legius syndrome, the overall appearance and number of spots may vary between individuals.

People with Legius syndrome often have multiple café-au-lait macules. In some cases, there may also be freckling in areas such as the armpits and groin. These skin changes are the most common signs observed in this condition.

Legius syndrome is a genetic condition caused by variations in the SPRED1 gene. Since the condition is inherited, the changes in the DNA that affect the SPRED1 gene are considered the main cause of the disorder.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.