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Failure of rapamycin in the treatment of multiple haemangiomas associated with Maffucci syndrome

Maffucci syndrome is a rare, nonhereditary, congenital, mesodermal dysplasia presenting as multiple enchondromas and haemangiomas, which was first described in 1881. Cartilaginous and vascular lesions are exclusively or predominantly unilateral, and may progress to malignancy. Mutant isocitrate dehydrogenase (IDH)1 or IDH2 pathways can substantially contribute to tumourigenesis. There is currently no effective medical treatment for the vascular lesions associated with Maffucci syndrome, although Riou et al. reported a case with spindle-cell haemangioma in 2012, which was successfully treated with low doses of rapamycin. We present a case of Maffucci syndrome with vascular lesions presenting as exclusively cavernous haemangioma, which was not responsive to rapamycin treatment.