Gorham-stout disease of the radius: Imaging pattern explaine
Gorham-Stout Disease (GD) is a very rare disease of unknown etiology characterized by progressive osteolysis and soft tissue involvement. Imaging is non-specific, and diagnosis may be delayed. The evolution of the disease is unpredictable, with progression of the osteolysis, spontaneous regression, or in a few cases re-ossification.

Published in the Journal of Solid Tumors, the authors describe the characteristics of GD in different imaging modalities, as well as the histological features in a case with the first metabolically active lesion in GD, with relevant implications for the differential diagnosis.

A 54-year-old woman with a medical history of acute myeloid leukemia (AML) in complete remission, presented with right upper limb pain, which was considered as a tendonitis. Persistence of the symptoms despite symptomatic treatment was indication to an X-ray, performed 6 months after initial symptoms. Imaging showed an important osteolysis of the proximal metaphyso-diaphysis of the right radius.

Given the patient’s medical history, a FDG PET-CT was performed one month later, to exclude leukemia recurrence or metastatic disease. The radial lesion showed hypermetabolic activity without any other pathological finding. Additionally, a bone marrow biopsy was performed, and revealed no malignancy. As all investigations remained negative, two consecutive percutaneous biopsies were performed, but showed only fibro-inflammatory modifications of the adipose tissue and skeletal muscle, and the absence of tumor.

Patient MRI follow-up, one month thereafter, demonstrated a soft-tissue mass in hyposignal T1, hypersignal T2 and STIR surrounding a large area of osteolysis of the proximal right radius, without restriction of diffusion. The apparent diffusion coefficient (ADC) value was 1.9 × 10−3 mm2 /sec. X-ray controls showed osteolysis progression. The patient presented concurrent paralysis of the right extensor digitorum communis.

Finally, through a multidisciplinary approach, decision was made to perform a surgical biopsy. Histology demonstrated a proliferation of irregular, anastomosed or branched vessels. Endothelial cells showed no atypia, and there were no malignant cells in the interstitium.

Fibrosis and chronic inflammation were seen, together with large areas of skeletal muscle atrophy. No bone was seen, in a surgical biopsy performed in the center of the “vanishing” radius. Finally 11 months after initial presentation, GD was suspected based on the combination of the clinical, histological and radiological findings. Initial treatment combined calcitonin, vitamin D, and fractional radiotherapy. The patient was however thereafter lost to follow-up.

Read in detail here: https://pxmd.co/P0QiO
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