Hereditary Multiple Exostoses with Rare Ocular Finding: A Case Report

Abstract

Purpose: To study rare ocular findings in a rare case of hereditary multiple exostoses (HME) and to study HME in one family. Methods: HME is an autosomal dominant genetic disease characterized by the presence of multiple exostoses (osteochondromas). It is caused by mutations in two genes: exostosin-1 (EXT1) and exostosin-2 (EXT2). We report HME in a family over three generations. The index case was a 14-year-old female who presented with an ocular mass and multiple hard nodules in the upper and lower limbs. Family history revealed similar multiple nodules in the younger brother, father, and grandfather. Hence, the paternal family history for HME is positive. All the family members were examined. Family members who were diagnosed with HME had a series of radiology tests completed. Furthermore, the family members with HME were also seen by an orthopedic surgeon. Results: Family history and physical examination revealed multiple exostoses in the younger brother, father, and grandfather. They were all diagnosed with HME. The index case also had an ocular surface mass with scleral ectasia in the right eye. Conclusion: HME is a rare, genetic disorder. Cases of HME with ocular findings are rare. This patient has a paternal family history of HME and presents with an ocular surface mass.

Keywords

• exostoses
• exostosin
• hereditary multiple exostoses
• hereditary multiple osteochondromas
• ocular surface mass