Literature DB >> 20975644

Hand involvement in Ollier Disease and Maffucci Syndrome: a case series.

Diogo Casal1, Carlos Mavioso, Maria-Manuel Mendes, Maria-Manuel Mouzinho.   

Abstract

Ollier Disease and Maffucci Syndrome are two rare diseases that can cause tumors in several organs, having a special predilection for the hand. However, there have been very few reports in the literature focusing on hand manifestations of these diseases. We report the cases of three female patients: one with Ollier Disease, and two other with Maffucci Syndrome. All patients had hand involvement as their initial primary complaint. The Ollier Disease patient developed chondrosarcomas of two digits and had to have these fingers amputated. One of the Maffucci patients died one year after presentation from a brain glioblastoma. These cases emphasize the importance of early diagnosis of Ollier Disease and Maffucci Syndrome, as these two conditions are associated not only to crippling hand deformity, but also to a significant risk of chondrosarcoma, and other malignant tumors.

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Year:  2010        PMID: 20975644

Source DB:  PubMed          Journal:  Acta Reumatol Port        ISSN: 0303-464X            Impact factor:   1.290


  4 in total

1.  Common somatic alterations identified in maffucci syndrome by molecular karyotyping.

Authors:  Mustapha Amyere; Anne Dompmartin; Vinciane Wouters; Odile Enjolras; Ilkka Kaitila; Pierre-Louis Docquier; Catherine Godfraind; John Butler Mulliken; Laurence Myriam Boon; Miikka Vikkula
Journal:  Mol Syndromol       Date:  2014-08-26

2.  Ollier Disease: A Case Series and Literature Review.

Authors:  Vėtra Markevičiūtė; Medeinė Šilenė Markevičiūtė; Mindaugas Stravinskas
Journal:  Acta Med Litu       Date:  2021-02-19

Review 3.  Update on the imaging features of the enchondromatosis syndromes.

Authors:  Ban Sharif; Daniel Lindsay; Asif Saifuddin
Journal:  Skeletal Radiol       Date:  2021-07-24       Impact factor: 2.199

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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