Exostoses, Multiple Hereditary

Multipla hereditära exostoser

Svensk definition

Ärftlig rubbning som överförs med en autosomalt dominant gen och kännetecknas av multipla exostoser (benutväxter) vid ändarna av långa skelettben. Den genetiska avvikelsen leder till en defekt i osteoklastaktiviteten i benändarnas metafysdelar i samband med benomvandlingen i barnaåren eller de tidiga ungdomsåren. Metafyserna utvecklar godartade, ofta broskklädda benutväxter. Ett fåtal utvecklas till tumörer.

Engelsk definition

Hereditary disorder transmitted by an autosomal dominant gene and characterized by multiple exostoses (multiple osteochondromas) near the ends of long bones. The genetic abnormality results in a defect in the osteoclastic activity at the metaphyseal ends of the bone during the remodeling process in childhood or early adolescence. The metaphyses develop benign, bony outgrowths often capped by cartilage. A small number undergo neoplastic transformation.

Svenska synonymer

Ärftliga multipla exostoser Bessel-Hagens sjukdom Multipel osteokondrom Familjär exostos

Engelska synonymer

Hereditary Exostoses, Multiple Chondrodysplasia, Hereditary Deforming Chondrodysplasias, Hereditary Deforming Deforming Chondrodysplasia, Hereditary Deforming Chondrodysplasias, Hereditary Hereditary Deforming Chondrodysplasia Hereditary Deforming Chondrodysplasias Diaphyseal Aclasis Aclases, Diaphyseal Aclasis, Diaphyseal Diaphyseal Aclases Exostoses, Familial Exostoses, Hereditary Multiple Multiple Exostoses, Hereditary Exostoses, Multiple Multiple Exostoses Exostoses, Multiple Cartilaginous Cartilaginous Exostoses, Multiple Exostoses, Multiple, Type I Exostosis, Familial Familial Exostosis Exostosis, Hereditary Multiple Multiple Exostosis, Hereditary Exostosis, Multiple Multiple Exostosis Exostosis, Multiple Cartilaginous Cartilaginous Exostosis, Multiple Multiple Cartilaginous Exostosis Familial Exostoses Hereditary Multiple Exostoses Hereditary Multiple Exostosis Multiple Cartilaginous Exostoses Multiple Hereditary Exostoses Multiple Osteochondromas Multiple Osteochondroma Osteochondroma, Multiple Multiple Osteochondromatosis Osteochondromas, Multiple Bessel-Hagen Disease