Fibrous dysplasia is a rare bone disease characterized by abnormal growth and replacement of normal bone tissue with fibrous tissue. The term is spelled using the International Phonetic Alphabet (IPA) as [faɪbrəs dɪsˈpleɪʒə]. The "f" at the beginning is pronounced as the voiceless bilabial fricative, while the "y" in "fibrous" is pronounced as a long "i." The "dys" in "dysplasia" is pronounced with a short "i" and the stress is on the second syllable. Overall, the spelling reflects the Greek roots of the term: "fibrous" meaning fiber-like and "dysplasia" meaning abnormal growth.
Fibrous dysplasia is a rare, non-inherited developmental disorder that affects bone growth, resulting in the abnormal formation and replacement of normal bone with fibrous tissue. It is characterized by the presence of abnormal fibrous tissue, which can weaken the affected bones and cause pain, fractures, and deformities. Fibrous dysplasia commonly affects the long bones, skull, and facial bones, but it can also occur in the pelvis, ribs, and other bones.
The condition is caused by a spontaneous genetic mutation in the GNAS1 gene, which leads to the overproduction of cyclic AMP, a molecule involved in bone cell signaling. This mutation disrupts the normal process of bone formation and remodeling, causing the replacement of healthy bone tissue with fibrous tissue. It typically manifests in childhood or adolescence and may progress slowly or remain stable throughout life.
The symptoms of fibrous dysplasia can vary widely depending on the location and extent of bone involvement. Common signs include bone pain, skeletal deformities, fractures with minimal trauma, and in severe cases, impaired mobility. In some cases, fibrous dysplasia can also be associated with endocrine disorders such as precocious puberty or hormonal imbalances.
Treatment for fibrous dysplasia aims to manage symptoms and prevent complications. This can include observation in mild cases, pain management, physical therapy, and in more severe cases, surgical interventions such as bone grafting or stabilization. Regular monitoring and follow-up care are essential to assess disease progression and manage potential complications.
The word "fibrous dysplasia" is derived from Greek and Latin roots.
The term "fibrous" comes from the Greek word "φίβρος" (phíbros), which means "fiber". It refers to the fibrous, or connective tissue-like, nature of the condition.
The term "dysplasia" is derived from the Greek prefix "δυσ-" (dys-), meaning "abnormal" or "difficult", and the Greek word "πλάσις" (plásis), meaning "formation" or "growth". Dysplasia generally indicates abnormal development or growth of cells or tissues.
So, "fibrous dysplasia" refers to a condition characterized by the abnormal growth of fibrous tissues within bones.