Unsatisfactory response to sirolimus in Maffucci syndrome‐associated spindle cell hemangiomas

• Published in: Dermatologic therapy Vol. 32; no. 3; pp. e12851 - n/a
• Main Authors: Gupta, Vishal, Mridha, Asit Ranjan, Khaitan, Binod K.
• Format: Journal Article
• Language: English
• Published: Hoboken, USA John Wiley & Sons, Inc 01-05-2019
• Subjects: Administration, Oral; Enchondromatosis - drug therapy; Enchondromatosis - pathology; Female; Hemangioma - drug therapy; Hemangioma - etiology; Hemangioma - pathology; Hemangiomas/vascular tumors; Humans; Immunosuppressive Agents - administration & dosage; Immunosuppressive Agents - adverse effects; Sirolimus - administration & dosage; Sirolimus - adverse effects; Treatment Failure; vascular malformation; Young Adult; Hemangiomas/vascular tumors; vascular malformation
• ISSN: 1396-0296; 1529-8019
• DOI: 10.1111/dth.12851

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.