Disappearing bone disease. A clinical and histological study

Area of Science:

• Pathology
• Histology
• Radiotherapy

Background:

• Disappearing bone disease, also known as vanishing bone disease or Gorham-Stout disease, is a rare skeletal disorder characterized by progressive bone loss.
• The exact etiology remains unknown, but it is associated with vascular abnormalities and bone resorption.

Observation:

• This report details three cases (one adult male, two boys) of disappearing bone disease.
• Clinical, radiographic, and detailed histopathological findings are presented.
• Early stages show bone replaced by numerous, wide, engorged capillaries; later stages exhibit dense fibrous tissue replacement.

Findings:

• Histochemical analysis in one patient revealed significant acid phosphatase and leucine aminopeptidase activity.
• These enzymatic activities were localized in perivascular mononuclear cells, potentially pericytes.
• This suggests a role for these cells in the bone resorption process characteristic of the disease.

Implications:

• The findings provide insights into the cellular mechanisms of bone resorption in disappearing bone disease.
• Understanding the role of pericytes could lead to targeted therapeutic strategies.
• Radiotherapy was used as a treatment modality in all reported cases.