Can I read Maffucci Syndrome: Overview and Insights on EtoBox?

Maffucci Syndrome: Overview and Insights by Damaris Mugo is a document available to read on EtoBox.

What is Maffucci Syndrome: Overview and Insights about?

Maffucci syndrome is a rare congenital disorder characterized by multiple enchondromas and soft-tissue venous malformations, primarily caused by somatic mutations in IDH1 or IDH2 genes. It manifests early in life, typically around ages 4-5, and has no familial inheritance pattern, affecting both genders equally. Complications can include neoplastic changes, with chondrosarcoma being the most common malignancy associated with the syndrome.

Author

Damaris Mugo

Language

EN