Extraordinary bone involvement in a Gaucher disease type I patient

We report on a 63-year-old patient with Gaucher disease type I who developed severe bone involvement with destructive lesions and huge soft tissue extension in both humeri that appeared to evolve slowly. The clinical course and histopathological findings in our patient suggested a progressive extraosseous extension of the storage cells into the soft tissue, accompanied by a striking increase of fibrotic tissue and resulting in an impressive deformity.

The extraordinary bone involvement in this patient expands our knowledge on the most severe skeletal complications of untreated Gaucher disease.