Autosomal dominant osteosclerosis - Report of a kindred

Autosomal dominant osteosclerosis (ADO), a rare inherited craniotubular bon e disorder, is a generalized hyperostosis that manifests itself as increase d cortical thickening of the skull, mandible, metacarpals, metatarsals, lon g bones, vertebral bodies, ribs, and clavicles. law abnormalities, which cl inically resemble the widening and deepening of the mandible seen in cherub ism, begin in childhood and have been reported to stabilize after puberty. Teeth and alveolar bone are normal. ADO must be distinguished from Van Buch em's disease, which is characterized by elevated serum alkaline phosphatase , neurologic complications, exopthalmos, periosteal excrescences, and an au tosomal recessive pattern of inheritance, as well as from other craniotubul ar bone disorders such as osteopetrosis. We present clinical and radiograph ic documentation of members of a kindred representing 4 generations affecte d with ADO. At initial examination of the proband, a differential diagnosis included cherubism, fibrous dysplasia, osteopetrosis, and Paget's disease. Radiographic examination revealed extensive radiopacity of the inferior bo rder and basal bone of the mandible. The proband's clavicles and humerus we re also affected. All family members examined were similarly affected and h ad mandibular and palatal tori. Authors of a previously published report on the dental and dentoalveolar management of patients with craniotubular bon e disorders have recommended prophylactic antibiotics to minimize risk of o steomyelitis in all such cases. The members of our kindred received extensi ve dental treatment before diagnosis, including extractions of severely car ious teeth, preprosthetic dentoalveolar surgery, and endodontic therapy; th ere was no incidence of osteomyelitis or postsurgical complications. Theref ore, the use of prophylactic antibiotics may not be warranted in patients w ith ADO who have otherwise normal medical histories.