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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.
Hypertrophic osteoarthropathy is one of many distant effect disorders due to cancer, with lung cancer being the most common cause but also occurring with ovarian or adrenal malignancies. A distant effect disorder, or a paraneoplastic syndrome , affects distant areas and thus is not related to local compression or obstruction effects from the tumor.
Image credits: Eric McCandless/Getty Images #4 Dave Coulier. Full House actor Dave Coulier revealed on November 13 that he had been diagnosed with a very aggressive form of cancer just a month before.
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.
Examples of periosteal reactive bone in selected specimens of Triceratops. A periosteal reaction can result from a large number of causes, including injury and chronic irritation due to a medical condition such as hypertrophic osteopathy, bone healing in response to fracture, chronic stress injuries, subperiosteal hematomas, osteomyelitis, and cancer of the bone.
Symptoms include stiffness and warm, firm swelling of the legs, and signs of lung disease such as coughing and difficulty breathing. Hypertrophic osteopathy in humans differs from a similar condition in dogs, in that in humans it is usually caused by lung tumors or infections such as Mycobacterium fortuitum or Corynebacterium .
Micrograph of a brown tumor (left of image). H&E stain.. Brown tumours consist of fibrous tissue, woven bone and supporting vasculature, but no matrix.The osteoclasts consume the trabecular bone that osteoblasts lay down and this front of reparative bone deposition followed by additional resorption can expand beyond the usual shape of the bone, involving the periosteum thus causing bone pain.