scholarly journals Maffucci Syndrome with Clival Enchondroma in Nasopharynx: A Case Report

2018 ◽  
Vol 71 (S1) ◽  
pp. 652-656
Author(s):  
Swathi Velagapudi ◽  
Saad M. Alshammari ◽  
Suresh Velagapudi
Author(s):  
Fernando César Toniazzi Lissa ◽  
Juliana Sonego Argente ◽  
Geórgia Nunes Antunes ◽  
Franciani de Oliveira Basso ◽  
Janara Furtado

2013 ◽  
Vol 40 (7) ◽  
pp. 661-666 ◽  
Author(s):  
Yu Cai ◽  
Rong Wang ◽  
Xin-Ming Chen ◽  
Yi-Fang Zhao ◽  
Zhi-Jun Sun ◽  
...  

2021 ◽  
Author(s):  
Haiyan Lv ◽  
Hantao Jiang ◽  
Minge Zhang ◽  
Huarong Luo ◽  
Zhenghua Hong ◽  
...  

Abstract Background: Maffucci syndrome is a rare, nonhereditary congenital mesodermal dysplasia characterized by multiple enchondromas and hemangiomas. It is associated with an increased risk of the development of malignant tumors. We present a case of 45-year-old man with Maffucci syndrome to supplement the clinical manifestations and explore the molecular mechanism of Maffucci syndrome.Results: The patient was underwent amputation surgery to inhibit tumor development and diagnosed as Maffucci syndrome with 1-2 grade giant chondrosarcoma in the left ankle. In addition, the whole exon analysis by Next Generation Sequencing revealed isocitrate dehydrogenase 1 R132C mutation in chondrosarcoma lesions but not in blood DNA. Conclusions: This case report presents the genetic evidence for the inclusion of chondrosarcoma among tumors characterizing Maffucci syndrome. Consequently, it is suggested that patients with Maffucci syndrome should be followed up more actively to exclude neoplasms due to IDH1 R132C somatic mutation.


2018 ◽  
Vol 20 (1) ◽  
pp. 67
Author(s):  
Jamiul Hossain ◽  
Hosne Ara Rahman ◽  
Samira Sharmin ◽  
Jesmine Ferdous

<p>Maffucci’s syndrome comprises of multiple venous malformations in combination with dyschondroplasia and a variety of cutaneous, vascular, chondro-osseous and other benign and malignant mesodermal growths. This report describes the case of a 20 -year-male patient with a clinical diagnosis of Maffucci syndrome with multiple lobulated sof tissue swelling with phleboliths in left upper and lower limbs. Significant findings were presence of multiple haemangiomas, enchondromas and pathological fractures- those were evaluated by X-ray, skeletal scintigraphy and ultrasound. Skeletal scintigraphy play an important role to see the extent of the disease.Early detection and surgical management of these tumors form the basis of its treatment and desirable outcome.</p><p>Bangladesh J. Nuclear Med. 20(1): 67-69, January 2017</p>


2019 ◽  
Vol 63 (5) ◽  
pp. 400
Author(s):  
Kamal Kajal ◽  
BNaveen Naik ◽  
John Sujith

2016 ◽  
Vol 9 (1) ◽  
Author(s):  
Olga Prokopchuk ◽  
Stephanie Andres ◽  
Karen Becker ◽  
Konstantin Holzapfel ◽  
Daniel Hartmann ◽  
...  

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