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[Mc Cune-Albright syndrome with multiple hemangiomas of maxillofacial bone: a case report].
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
July 2023
Department of Oral and Maxillofacial Surgery, Affiliated Hospital of Guangdong Medical University, Zhanjiang 524000, China.
Osteochondroma of the first rib with pseudo-hemangioma.
Asian J Surg
December 2022
Department of Orthopedic Trauma Surgery, Ningbo NO.6 Hospital, China. Electronic address:
Cell-free DNA from plasma as a promising alternative for detection of gene mutations in patients with Maffucci syndrome.
Hereditas
January 2022
Department of Interventional Therapy, Multidisciplinary Team of Vascular Anomalies, Shanghai Ninth People's hospital, Shanghai Jiao Tong University, Shanghai, People's Republic of China.
Maffucci syndrome (MS, OMIM 166000) is an extremely unusual, nonhereditary, multisystemic disorder that is characterized with multiple enchondromas and vascular lesions, most of which are spindle cell hemangiomas. Complications of MS, such as bone deformities and dysfunction caused by enchondromas, usually increase during childhood and adolescence. Malignant transformation of enchondromas and other malignancies are the most severe complications.
View Article and Find Full Text PDFA case of Maffucci syndrome with a buccal hemangioma harboring a mutation in IDH1.
Oral Oncol
November 2021
Department of Oral and Maxillofacial Surgery, Nagoya University Hospital, Nagoya, Japan; Department of Oral and Maxillofacial Surgery, Nagoya University School of Medicine, Nagoya, Japan.
Article Synopsis
- - Maffucci syndrome is a rare skeletal disorder marked by multiple enchondromas and soft tissue hemangiomas, with recent research showing a link to mutations in the IDH1/2 genes.
- - This study presents the first case of Maffucci syndrome with an IDH1 mutation, specifically an R132C substitution, found in a 32-year-old man who had a hemangioma in his oral mucosa.
- - The hemangioma was surgically removed, and follow-up after over a year shows no tumor recurrence, with monitoring ongoing for any potential recurrence of the hemangioma.
Somatic variant (p.R132C) in an adult male with Maffucci syndrome.
Cold Spring Harb Mol Case Stud
December 2021
Murdoch Children's Research Institute, Melbourne, Parkville, Victoria, Australia 3052.
Maffucci syndrome is a rare, highly variable somatic mosaic condition, and well-known cancer-related gain-of-function variants in either the or genes have been found in the affected tissues of most reported individuals. Features include benign enchondroma and spindle-cell hemangioma, with a recognized increased risk of various malignancies. Fewer than 200 affected individuals have been reported; therefore, accurate estimates of malignancy risk are difficult to quantify and recommended surveillance guidelines are not available.
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