Successful treatment of spindle cell hemangiomas in a patient with Maffucci syndrome and review of literatures

Ramrada Lekwuttikarn; James Chang; Joyce M C Teng

doi:10.1111/dth.12919

Successful treatment of spindle cell hemangiomas in a patient with Maffucci syndrome and review of literatures

Dermatol Ther. 2019 May;32(3):e12919. doi: 10.1111/dth.12919. Epub 2019 Apr 29.

Authors

Ramrada Lekwuttikarn^{1

2}, James Chang³, Joyce M C Teng¹

Affiliations

¹ Department of Dermatology, Division of Pediatric Dermatology, Stanford University School of Medicine, Stanford, California.
² Department of Pediatrics, Division of Ambulatory and Adolescent Medicine, Section of Dermatology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
³ Division of Plastic and Reconstructive Surgery, Stanford University Medical Center, Stanford, California.

PMID: 30977938
DOI: 10.1111/dth.12919

Abstract

Maffucci syndrome is a rare genetic disease due to somatic mutation of IDH1 gene. Currently there is no medical treatment available for spindle cell hemangioma associated with this disorder. Here we report successful management of these hemangiomas using sirolimus in combination with surgery.

Keywords: IDH 1 mutation; Maffucci syndrome; sirolimus; spindle cell hemangioma.

Publication types

Case Reports
Letter
Review

MeSH terms

Adult
Enchondromatosis / complications*
Female
Hemangioma / therapy*
Humans
Sirolimus / therapeutic use

Substances

Sirolimus