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Polyostotic fibrous dysplasia is a form of fibrous dysplasia affecting more than one bone. [2] Fibrous dysplasia is a disorder where bone is replaced by fibrous tissue, leading to weak bones, uneven growth, and deformity. [3] McCune–Albright syndrome includes polyostotic fibrous dysplasia as part of its presentation. [4]
Fibrous dysplasia is a mosaic disease resulting from post-zygotic activating mutations of the GNAS locus at 20q13.2-q13.3, which codes for the α subunit of the G s G protein-coupled receptor. [13] In bone, constitutive G s α signaling results in impaired differentiation and proliferation of bone marrow stromal cells . [ 14 ]
All patients with known or suspected McCune–Albright syndrome should undergo a screening evaluation for fibrous dysplasia. [18] Nuclear medicine tests such as technetium-99 scintigraphy are the most sensitive way to detect fibrous dysplasia lesions. [19] CT scan of the skull is the most useful test to evaluate craniofacial fibrous dysplasia ...
Emanuel Zayas, 14, suffered from a rare medical condition called polyostotic fibrous dysplasia, an illness which causes the body to replace portions of bones with soft tissue.
Ido Simyoni has fibrous dysplasia, a rare condition where tumors form in bone. He needed 2 surgeries to reconstruct his forehead, prevent infection. At 15, tumors started growing into man’s skull.
Jansen's metaphyseal chondrodysplasia (JMC) is a disease that results from ligand-independent activation of the type 1 of the parathyroid hormone receptor, due to one of three reported mutations (activating mutation).
Hereditary multiple osteochondromas (HMO), also known as hereditary multiple exostoses, is a disorder characterized by the development of multiple benign osteocartilaginous masses in relation to the ends of long bones of the lower limbs such as the femurs and tibias and of the upper limbs such as the humeri and forearm bones.
Osteochondroma is the most common benign tumor of bone. [1] [2] The tumors take the form of cartilage-capped bony projections or outgrowth on the surface of bones ().[3] [4] It is characterized as a type of overgrowth that can occur in any bone where cartilage forms bone.