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

Abstract

Conflict of interest: the authors declare that they have no conflicts of interest. The first three authors contributed equally to this work and should be considered joint first authors. Maffucci syndrome is a rare, nonhereditary, congenital, mesodermal dysplasia presenting as multiple enchondromas and haemangiomas, which was first described in 1881.1 Cartilaginous and vascular lesions are exclusively or predominantly unilateral, and may progress to malignancy.1 2 Mutant isocitrate dehydrogenase (IDH)1 or IDH2 pathways can substantially contribute to tumourigenesis.3 4 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.5 We present a case of Maffucci syndrome with vascular lesions presenting as exclusively cavernous haemangioma, which was not responsive to rapamycin treatment. A 43‐year‐old man presented because of renewed progression of tumours on his fingers that had been causing worsening dysfunction of his left hand for the past 2 months. The patient had a history of multiple, continuously growing nodules on his left hand and left foot, beginning at the age of 12 years. He had also developed multiple haemangiomas on the left side of his body since that time. The progression of the nodules and the haemangiomas had halted after puberty. There was no relevant family history.