Multiple hereditary exostoses (MHE) is a rare disease with autosomal dominant inheritance,
caused by heterozygous germline mutations in the EXT1 or EXT2 genes. This disorder is characterized by the growth of prominences surrounded by
cartilage in the growth plates and the long bones. Here, we report a family affected
by MHE. In this family, a pathogenic variant c.544C > T (p. Arg182Ter) was identified
in the EXT2 gene. This variant has been previously described in the literature, and here we are
reporting the relationship with clinical findings. MHE is suspected according to the
clinical manifestations; molecular research should be performed to establish the most
frequent mutations. A support, diagnosis, and follow-up group should be created, and
genetic counseling should be available for patients and families.
Keywords
hereditary multiple exostoses - EXT1 - EXT2 - osteochondroma - children