We report on a 63-year-old patient with Gaucher disease type I who develope
d severe bone involvement with destructive lesions and huge soft tissue ext
ension in both humeri that appeared to evolve slowly. The clinical course a
nd histopathological findings in our patient suggested a progressive extrao
sseous extension of the storage cells into the soft tissue, accompanied by
a striking increase of fibrotic tissue and resulting in an impressive defor
mity.
The extraordinary bone involvement in this patient expands our knowledge on
the most severe skeletal complications of untreated Gaucher disease.