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.