MAFFUCCI SYNDROME Meaning and
Definition
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Maffucci Syndrome is a rare non-hereditary disorder characterized by the presence of multiple enchondromas, which are benign cartilage tumors that develop within the bones. This condition was first described by the Italian pathologist Angelo Maffucci in 1881.
Enchondromas typically appear in childhood and can affect different bones, particularly those in the hands and feet. Maffucci Syndrome is unique because it combines multiple enchondromas with another distinctive feature, called hemangiomas. Hemangiomas are benign blood vessel tumors that often occur on the skin and mucous membranes. In Maffucci Syndrome, these hemangiomas most commonly develop in the soft tissues near the enchondromas.
The exact cause of Maffucci Syndrome is unknown, and it typically occurs randomly without any familial inheritance. However, research suggests that certain genetic mutations or alterations may be involved in the development of both the enchondromas and hemangiomas.
Symptoms commonly associated with Maffucci Syndrome include bone deformities, short stature, limb asymmetry, pain, and soft tissue swellings. There is also an increased risk of fractures and the development of malignant bone and soft tissue tumors. Additionally, Maffucci Syndrome can be associated with other health conditions such as ovarian cysts, thyroid disorders, and intellectual disabilities.
Treatment for Maffucci Syndrome focuses on the management of symptoms and complications. This may involve surgical interventions to stabilize fractures or remove problematic tumors. Regular imaging exams and monitoring are essential to detect any potential malignant transformation at an early stage. Multidisciplinary medical teams, including orthopedic surgeons, radiologists, oncologists, and genetic counselors, play a crucial role in the comprehensive care of individuals with Maffucci Syndrome.
Common Misspellings for MAFFUCCI SYNDROME
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Etymology of MAFFUCCI SYNDROME
The word "Maffucci Syndrome" is named after Angelo Maffucci, an Italian physician who first described the condition in 1881. It is a rare disorder characterized by the combination of multiple enchondromas (non-cancerous tumors that form in the cartilage) and hemangiomas (benign tumors made up of blood vessels). The syndrome was named in honor of Dr. Maffucci for his contributions in identifying and describing this specific medical condition.
