Health care researchers working in life science laboratory. Young female research scientist analyzing microscope slides in research lab.
Which of the following bone lesions are inherited in an autosomal dominant pattern?
Multiple hereditary exostoses
Multiple hereditary exostoses represents a heritable condition whereby numerous osteochondromas develop throughout the skeleton. This is inherited in autosomal dominant fashion and is associated with the EXT genes.
Ollier disease
Ollier disease is not typically heritable. While some mutations have been identified in these patients, these are most often thought to represent mosaicism of a somatic mutation.
Polyostotic fibrous dysplasia
Polyostotic fibrous dysplasia may be seen in some syndromes, including McCune-Albright syndrome (polyostotic fibrous dysplasia, café-au-lait spots, and endocrinopathies) and Mazabraud syndrome (polyostotic fibrous dysplasia, intramuscular myxomas). Fibrous dysplasia is associated with GNAS mutations, although it is not typically heritable.
Chondrosarcoma
Chondrosarcoma may be seen in patients with multiple hereditary exostoses, Ollier disease, and Maffucci syndrome. However, none of these are known to be heritable.
