fibrous dysplasia

Fibrous dysplasia is a genetic disorder characterized by the replacement of normal bone with fibrous tissue, leading to pain, deformities, and fractures. It primarily affects the skull, femur, tibia, and humerus. The condition is not inherited, and the exact genetic basis remains unidentified. Clinical features include abnormal bone structure, osteolysis, and cortical irregularities, with most patients experiencing fibrous dysplasia of the bones and significant abnormalities in limb and axial skeleton morphology.

Patients with fibrous dysplasia often present with a range of clinical features. The most common symptom is fibrous dysplasia of the bones, which is always present. Other frequent manifestations include abnormalities of the limbs (80-99%), axial skeleton morphology (80-99%), and skull morphology (80-99%). Osteolysis and abnormal bone structure are also prevalent in 80-99% of cases, while bowing of long bones and patchy reduction of bone mineral density are noted in 30-79% of patients.

Documentation on fibrous dysplasia is limited due to its rarity and the lack of established genetic markers. As the condition affects fewer than 1 in 100,000 individuals, comprehensive clinical studies are scarce. The complexity of its symptoms and the variability in how it presents further complicate the understanding of this disorder. Ongoing research aims to better characterize the condition and explore potential therapeutic options.

Currently, there are six active clinical trials investigating various aspects of fibrous dysplasia. While there are no orphan drug designations, these trials may provide insights into potential treatments and management strategies. For more information on these trials, you can visit ClinicalTrials.gov and search for fibrous dysplasia: https://clinicaltrials.gov/search?cond=fibrous%20dysplasia.