Unsatisfactory response to sirolimus in Maffucci syndrome-associated spindle cell hemangiomas.

Maffucci syndrome is characterized by multiple benign vascular anomalies and enchondromas present on the distal extremities. Effective treatment options are currently not available for Maffucci syndrome-associated vascular lesions. Sirolimus is a mTOR pathway inhibitor, and has been tried successfully in the treatment of various vascular anomalies. We treated a 23-year-old female with Maffucci syndrome-associated spindle cell hemangiomas with oral sirolimus (2mg/day, 0.04mg/kg/day). There was improvement in pain, but no change in colour or size of the vascular nodules. In view of unsatisfactory response and treatment-related adverse effects (oral aphthae, mild transaminitis), sirolimus was stopped after 6 months.

Early-onset childhood sarcoidosis with incidental multiple enchondromatosis.

The triad of rash, arthritis, and uveitis seems to be characteristic for early-onset childhood sarcoidosis. We describe an interesting case of early-onset childhood sarcoidosis coexisting enchondromatosis, which clinically masquerade as Langerhans cell histiocytosis. A 33 months old girl presented with skin rash, subcutaneous nodules with polyarthritis, and revealed the involvement of lymph nodes as well as spleen during work-up. She also presented with multiple osteolytic lesions which pathologically proven enchondromatosis. Oral prednisone was prescribed at 2 mg/kg/day for 2 months until when subcutaneous nodules and joint swellings almost disappeared, and then slowly tapered over a period of 5 months. We report an unusual case of early-onset childhood sarcoidosis presented with osteolytic bone lesions which were irrelevant to sarcoidosis.

Ollier's disease treated with grafting using alpha-tricalcium phosphate cement. A case report.

Ollier's disease is a rare disorder characterized by multiple enchondromas with a unilateral predominance, especially in fingers in early childhood. We experienced a case of Ollier's disease treated four times with simple curettage from the age of 2 years and alpha-tricalcium phosphate cement grafting at the age of 21 years. The forth curettage was performed when the patient was 15 years old and preoperative X-rays had shown remarkable finger deformities. Postoperative casting of the involved joints was necessary to prevent fractures but led to some finger contractures. Following X-rays demonstrated incredible improvement of the appearance. This suggests that simple curettage alone at an early stage of Ollier's disease provide cosmetic improvement. At the age of 21 years our patient showed enlargement of the intramedullary finger lesions again. Some lesions seemed to be impending pathological fractures. This time we chose alpha-tricalcium phosphate cement to fill the cavities after curettage had been carried out. Harvesting a large amount of autologous bone was not required. All activities of daily life could be resumed immediately after surgery and none of the finger joints showed further restriction of motion. X-rays taken three years after the operation showed new bone ingrowth surrounding the material with little evidence of absorption. To our knowledge, this may be the first case of Ollier's disease treated with artificial bone grafting reported in the English literature.