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Pycnodysostosis (from Greek πυκνός (puknos) 'dense' dys- 'defective' and -ostosis 'condition of the bone' [1]) is a lysosomal storage disease of the bone caused by a mutation in the gene that codes the enzyme cathepsin K. [2]
Gorham's disease (pronounced GOR-amz), also known as Gorham vanishing bone disease and phantom bone disease, [1] is a very rare skeletal condition of unknown cause.It is characterized by the uncontrolled proliferation of distended, thin-walled vascular or lymphatic channels within bone, which leads to resorption and replacement of bone with angiomas and/or fibrosis.
Osteosclerosis is a disorder characterized by abnormal hardening of bone and an elevation in bone density. It may predominantly affect the medullary portion and/or cortex of bone.
Renal osteodystrophy is defined as an alteration of bone in patients with chronic kidney disease (CKD). [1] It is one measure of the skeletal component of the systemic disorder of chronic kidney disease-mineral and bone disorder (CKD-MBD).
Hyperostosis is an excessive growth of bone.It may lead to exostosis.It occurs in many musculoskeletal disorders and from use of drugs like Isotretinoin. [1]Disorders featuring hyperostosis include: [2]
Metabolic bone disease is an abnormality of bones caused by a broad spectrum of disorders. Most commonly these disorders are caused by deficiencies of minerals such as calcium, phosphorus, magnesium or vitamin D leading to dramatic clinical disorders that are commonly reversible once the underlying defect has been treated.
It’s natural to be curious about how well off — or not — our friends, neighbors and peers are. And for better or worse (but probably worse), social media makes it easy to be more involved in ...
The disorder can be detected by radiograph due to thickening of bony cortex resembling "dripping candle wax." It is included on the spectrum of developmental bone dysplasias including pycnodysostosis and osteopoikilosis. [6] The disorder tends to be unilateral and monostotic (i.e. affecting a single bone), with only one limb typically involved.