What notable skeletal deformity can occur in Gaucher disease?

Gaucher disease is a genetic disorder resulting from the accumulation of glucocerebrosides due to a deficiency in the enzyme glucocerebrosidase. One of the notable skeletal deformities associated with this condition is the "Erlenmeyer flask deformity." This deformity is characterized by an abnormal widening of the distal femur and proximal tibia, which causes a shape resembling an Erlenmeyer flask. Patients with Gaucher disease often experience bone pain, osteopenia, and an increased risk of fractures due to bone involvement.

The presence of the Erlenmeyer flask deformity is particularly important because it highlights the skeletal manifestations of Gaucher disease, distinguishing it from other conditions that involve skeletal alterations. As such, it serves as a significant clinical feature that can aid in the diagnosis of the disease when considered along with other symptoms, including hepatosplenomegaly and blood dyscrasias.

Other options present deformities or conditions that are not associated with Gaucher disease but may relate to other medical conditions, further underscoring the specificity of the Erlenmeyer flask deformity in this context.