Disappearing bone disease of the humerus and the cervico-thoracic spine: a case report with 42-year follow-up.

BACKGROUND CONTEXT: Disappearing bone disease (DBD) is a rare idiopathic musculoskeletal disorder that is distinguished by bone resorption without bone formation, vascular or lymphatic vessel proliferation, and soft-tissue swelling. Long-term follow-up of a patient with DBD has rarely been reported in the literature.

PURPOSE: The following is a case report of a female patient with DBD of the humerus and the spine who was followed for 42 years, documenting the progression of the disease and outcomes.

STUDY DESIGN: Case report.

METHODS: A review of the medical records since the time of initial hospital admission throughout follow-up was performed.

RESULTS: A female patient was first seen at our institution at the age of 14. She later developed DBD of the humerus and the spine. The initial difficulty encountered was reaching the diagnosis, and later on with management of the patient as the disease progressed. The case was complicated by syrinx and arachnoid cyst formation, which caused neurologic changes leading to tetraplegia and shunt infection. The patient's inability to form a solid fusion mass led to repeated implant loosening and progressive deformity despite efforts made to stabilize both the humerus and the spine. The treatment modalities used were oral bisphosphonates, rhBMP, repeated surgeries, and instrumentation with adjunct bone graft and substitutes. At the age of 56 years, the patient died because of septicemia secondary to urinary tract infection from tetraplegia.

CONCLUSIONS: To our knowledge, this is the first report documenting a 42-year follow-up of a patient with DBD of the humerus and the spine. Our report showed that DBD greatly affects the quality of life of the patient. Close follow-up, a multidisciplinary approach, and supportive care are stressed when managing patients with DBD.