Literature DB >> 30977938

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

Ramrada Lekwuttikarn1,2, James Chang3, Joyce M C Teng1.   

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.
© 2019 Wiley Periodicals, Inc.

Entities:  

Keywords:  zzm321990IDH 1 mutation; Maffucci syndrome; sirolimus; spindle cell hemangioma

Mesh：

Substances：

Year:  2019        PMID： 30977938     DOI： 10.1111/dth.12919

Source DB:  PubMed          Journal:  Dermatol Ther        ISSN： 1396-0296            Impact factor:   2.851


  4 in total

Review 1.  Imaging of benign cervicofacial vascular anomalies and associated syndromes.

Authors:  Anthony S Larson; Waleed Brinjikji; Katelyn R Anderson; Megha Tollefson; V Michelle Silvera; Julie B Guerin
Journal:  Interv Neuroradiol       Date:  2021-08-16       Impact factor: 1.764

2.  Maffucci syndrome complicated by giant chondrosarcoma in the left ankle with an IDH1 R132C mutation: a case report.

Authors:  Haiyan Lv; Hantao Jiang; Minge Zhang; Huarong Luo; Zhenghua Hong; Hai Yang; Weiming Xu; Bo Shen; Wei Zhang; Hao Qiu; Rangteng Zhu
Journal:  World J Surg Oncol       Date:  2022-06-29       Impact factor: 3.253

3.  Somatic IDH1 variant (p.R132C) in an adult male with Maffucci syndrome.

Authors:  Natasha J Brown; Zimeng Ye; Chloe Stutterd; Sureshni I Jayasinghe; Amy Schneider; Saul Mullen; Simone A Mandelstam; Michael S Hildebrand
Journal:  Cold Spring Harb Mol Case Stud       Date:  2021-12-09

4.  Cell-free DNA from plasma as a promising alternative for detection of gene mutations in patients with Maffucci syndrome.

Authors:  Yi Sun; Xindong Fan; Yamin Rao; Zhenfeng Wang; Deming Wang; Xitao Yang; Lianzhou Zheng; Mingzhe Wen; Ren Cai; Lixin Su
Journal:  Hereditas       Date:  2022-01-18       Impact factor: 3.271
  4 in total

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