Teaching Case

Enlarging, soft-tissue mass in her right hand.

The patient presented with an enlarging soft-tissue mass in her right hand. X-ray images showed well demarcated lytic lesions of the proximal and middle phalanges of the index finger without any periosteal reaction. A soft-tissue mass with calcifications was also obvious (Fig 1). Magnetic resonance imaging showed a low-signal intensity lesion on T1-weighted images in the soft tissues (Fig 2a). T2-weighted images showed that the lesion was hyperintense with central low-signal intensity areas corresponding to calcification (Fig 2c). The bony lesions were cystic (Fig 2d). The lesion enhanced after contrast administration (Fig 3). The findings were compatible with soft-tissue hemangioma. There was no evidence for visceral involvement.
The association of multiple cystic bony lesions and soft-tissue hemangioma suggested the diagnosis of cystic angiomatosis. The diagnosis was made on the basis of radiological findings. The differential diagnosis from Maffucci-syndrome, where hemangiomas are seen in association with multiple enchondromas, was based on the lack of typical matrix calcifications in the bony cystic lesions. Moreover the enchondromas are usually diaphyseal whereas the lytic lesions in our case were subarticular.

Cystic angiomatosis (CA) was first described by Jacobs and Kimmelstiel in 1953. It is a rare condition with uncertain etiology. Multiple cystic lesions throughout the skeleton with similar angiomatous changes in the viscera and soft tissues are the characteristics of this disorder [1]. CA is more frequent in males and usually discovered at the age of 10-30 years. Patients can present with pathologic fractures although they are generally asympomatic with normal laboratoty findings [2].
Radiologically the osteolytic bone lesions are multiple, round or oval of variable size and sharply circumscribed, often with sclerotic borders. Matrix calcification or cortical disruption are typically absent and periosteal reaction is only found after pathological fractures. Femur, ribs, vertebrae, skull and innominate bones are the most common affected sites. Small bones of the hands and feet are rarely involved [2].
The skeleton cystic lesions are in the majority of the cases associated with extraskeletal soft tissue involvement. The spleen, the liver, the kidneys, the pleura and peritoneal membranes, the mesentery, the retroperitoneum and the lymph nodes are more often involved [3]. Histologically the lesions are of hemangiomatous, lymphangiomatous or mixed hemangiolymphangiomatous origin [4]. CA is indistinguishable from generalized lymphangiomatosis and therefore frequently presents diagnostic difficulties. When, as in our case, soft-tissue calcifications are present, a hemangiomatous lesion is suggested. On the contrary, lymphangiomatous soft-tissue lesions do not contain phleboliths [3]. The differential diagnosis of CA includes other polyostotic diseases such as fibrous dysplasia, Maffucci-syndrome, histiocytosis X, hyperparathyroidism with brown tumors, Gorham’s disease, and metastases. CA is a relatively benign disorder and patients with isolated skeletal involvement have a better prognosis [1,5].