koostosis

Koostosis is a term encountered in a limited number of medical sources to denote a skeletal disorder characterized by abnormal bone formation and altered remodeling. The term is not widely standardized and may be used variably; in current practice, many authors classify related findings under osteosclerosis, osteopetrosis, or other bone-structure abnormalities.

Clinical presentation ranges from asymptomatic radiographic abnormalities to bone pain, deformities, and fragility fractures. Generalized skeletal sclerosis can narrow the medullary cavities and, in severe cases, contribute to nerve compression. Growth and development may be affected in early-onset forms, and craniofacial abnormalities have been described in some reports, though these features are not universal.

Pathophysiology is heterogeneous. Proposed mechanisms include dysregulation of osteoclast-mediated resorption, altered osteoblast activity, and disrupted bone turnover. Familial cases have been described with autosomal dominant and autosomal recessive inheritance patterns, and with variable expressivity across individuals.

Diagnosis relies on imaging and clinical correlation. Plain radiographs, CT, or MRI may show increased bone density, thickened cortices, and reduced marrow space, while laboratory tests are often nonspecific. Genetic testing can aid in identifying related variants when a hereditary pattern is suspected.

Management is individualized and typically multidisciplinary. It emphasizes symptom relief, fracture prevention, and monitoring for complications such as nerve compression. Prognosis depends on the underlying etiology and severity; milder forms may have near-normal function, whereas severe, early-onset variants can carry substantial morbidity.