Craniomaxillofacial Features in Hereditary Multiple Exostosis

Abstract

Hereditary multiple exostosis is the most common form of bone dysplasia. This entity is also known as diaphyseal aclasis, hereditary deforming chondrodysplasia, multiple hereditary exostoses, multiple osteochondromatosis, multiple cartilaginous exostosis, dyschondroplasia, and Ehrenfried disease. It is an inherited autosomal dominant disease with predominance in males and a benign condition characterized by the presence of multiple exostosis or osteochondromas arising from long and flat bones.Osteochondroma is the most common benign tumor in persons between 10 and 30 years of age. It accounts for 20% to 50% of all benign tumors and 10% to 15% of all bone tumors. It is more commonly located at the level of the metaphysis of long bones. However, osteochondroma is rare at the level of the facial bones and skull base. It has been reported in the maxillary sinus and in different parts of the mandible, such as the condyle, ramus, body, and symphyseal region. It is very uncommon in the coronoid process and occipital bone.Jacob disease, or osteochondroma of the mandibular coronoid process, is a benign skeletal tumor that is rare in the oral and maxillofacial skeleton. A review of the literature revealed only 41 histologically proven cases of 52 reported cases. To the best of the authors' knowledge this is the first clinical report of bilateral coronoid osteochondroma and associated occipital exostosis in a patient with hereditary multiple exostosis.

Heparan sulfate in skeletal development, growth, and pathology: The case of hereditary multiple exostoses

“…This work indicates that HS loss may be important for directing the ratio between peripheral and longitudinal growth (Jones et al, ). Exostoses can also sometimes occur in craniofacial elements such as the mandible (Ruiz and Lara, ). Chronic pain and restrictions in activity are common consequences of the disease.…”

Osteochondroma of the coronoid process: A case report and review of the literature

“…OCs can occur independently or as part of an autosomal dominant disorder known as hereditary multiple OC (HMO) syndrome (41). In the literature, of the patients with HMO syndrome, only 2 had lesions in the craniofacial region (41,52).…”

“…OCs can occur independently or as part of an autosomal dominant disorder known as hereditary multiple OC (HMO) syndrome (41). In the literature, of the patients with HMO syndrome, only 2 had lesions in the craniofacial region (41,52). The discrimination of these two types is important, as sarcomatous changes are rare in solitary OCs (1–2%), but do occur in 5–25% of HMO cases (53,54).…”

Endoscopic endonasal extreme far-medial approach for a lower clivus osteochondroma in a patient with hereditary multiple exostoses: illustrative case

“…Hereditary multiple exostoses (HME) [1][2][3][4][5][6] is a rare pediatric disorder caused by loss-of-function mutations in the genes that encode the heparan sulfate-synthesizing enzymes EXT1, EXT2, and EXT3. 7 HME is characterized by the formation of cartilaginous outgrowths, called "osteochondromas," next to the growth plates of axial and appendicular skeletal elements.…”

“…Given the lack of surgical reports concerning skull base lesions, it is unknown whether these tumors also develop into endochondral elements of the craniofacial skeleton. [1][2][3][4][5][6] To the best of our knowledge, this is the first study to document the use of endoscopic endonasal surgery (EES) to treat a clivus lesion in a patient with HME. Herein, we describe the surgical procedure and the patient's clinical course.…”