Challenge of the Week / Basic Science / 07.17.20

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, cafĂ©-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.

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