Literature DB >> 29144050

Fibroadipose vascular anomaly treated with sirolimus: Successful outcome in two patients.

Jonathan Erickson1, William McAuliffe2, Lewis Blennerhassett3, Anne Halbert1.   

Abstract

Fibroadipose vascular anomaly (FAVA) is a rare, complex mesenchymal malformation combining fibrofatty replacement of the affected muscles and slow-flow vascular malformation. The condition is characterized by localized swelling, severe pain, phlebectasia, and contracture of the affected limb. Treatment paradigms are not well established for this rare, recently recognized condition. We report two cases of FAVA in which treatment with sirolimus produced rapid, dramatic improvement in pain and quality of life.
© 2017 Wiley Periodicals, Inc.

Entities:  

Keywords:  fibroadipose vascular anomaly; medical therapy; pediatric dermatology; sirolimus; vascular malformation

Mesh：

Substances：

Year:  2017        PMID： 29144050     DOI： 10.1111/pde.13260

Source DB:  PubMed          Journal:  Pediatr Dermatol        ISSN： 0736-8046            Impact factor:   1.588


  4 in total

1.  Fibro-adipose vascular anomaly (FAVA): three case reports with an emphasis on the mammalian target of rapamycin (mTOR) pathway.

Authors:  Yumiko Hori; Katsutoshi Hirose; Noriko Aramaki-Hattori; Sachi Suzuki; Robert Nakayama; Masanori Inoue; Takahiro Matsui; Masaharu Kohara; Satoru Toyosawa; Eiichi Morii
Journal:  Diagn Pathol       Date:  2020-07-25       Impact factor: 2.644

2.  Case Report of Fibro-Adipose Vascular Anomaly (FAVA) with Activating Somatic PIK3CA Mutation.

Authors:  Jordan H Driskill; Helena Hwang; Alexandra K Callan; Dwight Oliver
Journal:  Case Rep Genet       Date:  2022-08-02

Review 3.  A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations.

Authors:  Guillaume Canaud; Adrienne M Hammill; Denise Adams; Miikka Vikkula; Kim M Keppler-Noreuil
Journal:  Orphanet J Rare Dis       Date:  2021-07-08       Impact factor: 4.123

4.  Safety and efficacy of low-dose PI3K inhibitor taselisib in adult patients with CLOVES and Klippel-Trenaunay syndrome (KTS): the TOTEM trial, a phase 1/2 multicenter, open-label, single-arm study.

Authors:  M Luu; P Vabres; M Bardou; L Faivre; H Devilliers; R Loffroy; A Phan; L Martin; F Morice-Picard; F Petit; M Willems; D Bessis; M L Jacquemont; A Maruani; C Chiaverini; T Mirault; J Clayton-Smith; M Carpentier; C Fleck; A Maurer; M Yousfi; V E R Parker; R K Semple
Journal:  Genet Med       Date:  2021-08-12       Impact factor: 8.822
  4 in total

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