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Acromesomelic Dysplasia Hunter Thompson Type

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

Treatment Used: Sirolimus
Number of Patients: 0
MediFind Summary

Overview: This article discusses the use of sirolimus in Maffucci syndrome( multiple benign vascular anomalies)-associated spindle cell hemangiomas.

Conclusion: 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.

Abstract

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.

Authors
Vishal Gupta, Asit Mridha, Binod Khaitan

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