Kraniotubuläre Hyperostosis

Kraniotubuläre hyperostoses are Osteopetrosen with excessive bone growth that changes the appearance and increases bone density.

Kraniotubuläre hyperostoses are Osteopetrosen with excessive bone growth that changes the appearance and increases bone density. Endosteal hyperostosis (van-Buchem syndrome) This disorder is autosomal recessive usually. Excessive bone growth and jaw deformation occur in middle childhood. As a result, the grown around the cranial nerves resulting in facial paralysis and deafness. Life expectancy is not shortened. The stature is normal and the bones are not fragile. Expansion and sclerosis of the skull, the skull and the lower jaw are the main features of the radiograph. Endosteal thickening are present in the diaphysis of the long bones. Sometimes a surgical decompression pinched nerves helps. Sclerosteosis this autosomal recessive disease is caused by a mutation in the SOST gene encoding the protein Sklerostin. Sclerosteosis, an autosomal recessive disease that is most commonly found in the European-descended population of South Africa (Boers). Excessive bone growth and sclerosis, particularly the skull, develop in early childhood. Linear growth and weight are often massively increased. Deafness and facial paralysis due to nerve narrowing the first signs and findings may be the disease. Deformations of the face that occur with age of 10 may deteriorate significantly. Cutaneous and bony syndactyly of the second and third fingers distinguishes the sclerosteosis of the other forms of kraniotubulären hyperostosis. The diagnosis is suspected by characteristic skeletal abnormalities, particularly if the patient also has a syndactyly. Usually an x-ray is taken. A strong expansion and sclerosis of the skull and mandible are the dominant features in the X-ray. The vertebrae are spared, although its pedicle are tight. The pelvic bones are sclerotic, but have normal contours. The long bones have a sclerotic, hyperostotic cortex and underdeveloped stems. A diagnostic genetic testing is available. To reduce the intracranial pressure or decompression processing to trapped nerves, surgery can help. Diaphyseal dysplasia (Camurati-Engelmann syndrome) This autosomal dominant disease makes itself in the middle childhood with muscle pain, weakness and wasting, typically on the legs, noticeable. The symptoms disappear at the age of 30 years. Hyperostoses affect the long bones and skull. Cranial nerve compression and elevation of intracranial pressure are occasional complications. Some patients are severely affected, others are virtually asymptomatic. The diagnosis is suspected by the combination of muscular deficits and hyperostosis of long bones and skulls. Usually, a simple X-ray is taken. The dominant feature of the radiograph is a remarkable thickening of the periosteal and medullary sides of Diaphysenkortikalis of the long bones. However, these findings vary. The medullary canals and external bone contours are irregular. The limbs and the axial skeleton usually remain spared. Rarely the skull is involved with a broadening of the skull and a sclerosis of the skull base. Corticosteroids can relieve bone pain and improve muscle strength.

Health Life Media Team

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