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.
['Gupta|Vishal|V|0000-0001-6327-6037', 'Mridha|Asit Ranjan|AR|', 'Khaitan|Binod K|BK|']
D000284:Administration, Oral D004687:Enchondromatosis D005260:Female D006391:Hemangioma D006801:Humans D007166:Immunosuppressive Agents D020123:Sirolimus D017211:Treatment Failure D055815:Young Adult
Hemangiomas/vascular tumors vascular malformation