Unveiling the uncommon: diagnostic journey of camurati-engelmann disease in a pediatric patient.

Abstract excerpt

BACKGROUND: Camurati-Engelmann disease (CED), also known as progressive diaphyseal dysplasia, is a rare genetic disorder characterized by abnormal thickening of the long bones' diaphysis. This condition is caused by mutations in the transforming growth factor beta-1 (TGFB-1) gene and is typically inherited in an autosomal dominant pattern. Patients with CED often present with symptoms such as chronic bone pain,...

Topics

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• Child, Preschool
• Diagnosis, Differential
• Mutation
• Radiography
• Transforming Growth Factor beta1