Gorham-Stout Disease: Radiologic Insights into a Rare Osteolytic Disorder

Purpose or Learning Objective: To review the imaging characteristics of Gorham-Stout disease, a rare disorder characterized by progressive osteolysis, and to highlight its diagnostic challenges, particularly in spinal and pelvic involvement. This case underscores the importance of recognizing key radiologic findings for early diagnosis and appropriate management.

Methods or Background: Gorham-Stout disease, also known as vanishing bone disease, is a rare idiopathic condition marked by progressive osteolysis and replacement of bone with angiomatous or lymphatic tissue. The disease can affect any part of the skeleton but commonly involves the axial skeleton, ribs, and pelvis. The exact pathogenesis remains unclear, although it is thought to be associated with abnormal lymphangiogenesis. Clinical manifestations vary depending on the site of involvement and can include pain, fractures, and skeletal deformity. Given its rarity and nonspecific symptoms, Gorham-Stout disease is often misdiagnosed, making imaging a critical tool for early identification and differentiation from other osteolytic conditions.

Results or Findings: We present a case of a 20-year-old woman with progressive lumbar and pelvic pain and an evolving pelvic deformity. Magnetic resonance imaging of the thoracic and lumbosacral spine demonstrated extensive vertebral bone resorption with fatty infiltration of the thoracolumbar spine, sacrum, and pelvis while maintaining vertebral body height and alignment. Unlike more advanced cases, no evidence was found of severe kyphotic or lordotic deformity. Computed tomography confirmed progressive osteolysis with cortical thinning, and subsequent biopsy of pelvic tissue revealed cystic angiomatosis/lymphangiomatosis, confirming the diagnosis. The patient's condition worsened over time, illustrating the progressive nature of Gorham-Stout disease.

Conclusion: Gorham-Stout disease presents substantial diagnostic challenges due to its rarity and variable radiologic presentation. Early recognition of imaging hallmarks—progressive osteolysis, cortical thinning, and fatty infiltration—is crucial for diagnosis and differentiation from other osteolytic disorders. This case highlights the need for heightened clinical awareness, timely imaging evaluation, and continued research to improve management strategies for this rare disease.

Publication History

Article published online:
02 June 2025