MAFFUCCI Meaning and
Definition
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Maffucci syndrome, also known as Maffucci's syndrome, is a rare genetic disorder characterized by the development of multiple benign bone tumors, known as enchondromas, together with soft tissue hemangiomas. This syndrome was first described by Italian pathologist Angelo Maffucci in 1881.
Enchondromas are non-cancerous growths that primarily affect the bones of the hands and feet, although they can occur in other skeletal sites as well. In Maffucci syndrome, these enchondromas often develop asymmetrically and may cause bone deformities, fractures, or hinder the proper growth and functioning of affected bones. Soft tissue hemangiomas, on the other hand, are abnormal, compact clusters of blood vessels that can appear on the skin or in deeper tissues and organs.
Maffucci syndrome is considered a sporadic condition, meaning it typically occurs randomly and is not inherited. However, recent research has linked the syndrome to mutations in the IDH1 or IDH2 genes, which are involved in cell growth and division. Individuals with Maffucci syndrome may also have an increased risk of developing certain types of cancers, such as ovarian and brain tumors.
As Maffucci syndrome is a rare disorder, treatment options and outcomes can vary. In some cases, surgical interventions may be required to address bone deformities or remove problematic tumors. Regular monitoring and screenings for potential complications, such as cancerous transformation of enchondromas, are also crucial for individuals with Maffucci syndrome. Genetic counseling may be recommended for affected individuals and their families to better understand the underlying genetic factors and possible risks associated with the condition.
Etymology of MAFFUCCI
The word "Maffucci" is derived from the Italian language. It is a surname that originated in Italy, particularly in the Southern regions. The etymology of the name is uncertain, and there are different theories regarding its origins. Some suggest that it may have derived from the medieval word "mafucci", which means "sorcerer" or "magician". Others propose that it could be a variation of the name "Maffeucci" or "Maffucci", which were common surnames in certain regions of Italy. The exact meaning and origin of the name remain unclear.
Similar spelling words for MAFFUCCI
