Isolated pseudoarthrosis of the limbs

Isolated pseudoarthrosis of the limbs is a rare congenital skeletal disorder characterized by the formation of a false joint (pseudoarthrosis) at the site of a bone that fails to heal properly, occurring in the absence of neurofibromatosis type 1 (NF1) or other syndromic conditions. Pseudoarthrosis literally means 'false joint' and refers to abnormal movement at a fracture or congenital bowing site where normal bone union does not occur. The condition most commonly affects the tibia (shinbone) but can also involve other long bones of the upper and lower limbs, including the forearm, femur, or clavicle. Key clinical features include congenital bowing or angulation of the affected limb, pathological fractures that fail to heal with standard treatment, limb length discrepancy, and progressive deformity. The condition typically presents in infancy or early childhood, often when the child begins to bear weight. The musculoskeletal system is primarily affected, and the condition can lead to significant functional impairment and disability if not adequately treated. Unlike pseudoarthrosis associated with NF1, the isolated form occurs without café-au-lait spots, neurofibromas, or other features of neurofibromatosis. Treatment is primarily surgical and remains challenging, as the abnormal bone segment is often resistant to healing. Surgical approaches include excision of the pseudoarthrosis site, intramedullary rodding, bone grafting (including vascularized fibular grafts), and the use of external fixation devices such as the Ilizarov apparatus. Bisphosphonates and bone morphogenetic proteins (BMPs) have been explored as adjunctive therapies. Despite advances in surgical techniques, recurrence of pseudoarthrosis and the need for multiple surgeries are common, and in severe refractory cases, amputation may ultimately be considered.

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