Van Buchem disease also referred to as hyperostosis corticalis generalisata, is a very rare hereditary osteosclerotic dysplasia. This disorder is marked by the excessive overgrowth of the mandible, skull, diaphysis of the long bones, ribs, clavicle, and pelvis.
Van Buchem disease (VBD) features excessive bone formation , in which there is symmetrical enlargement of the jaw, skull, ribs, clavicle, pelvis, diaphysis of the long bones, and tubular bones of the hands and feet. The bone overgrowth progresses with age but appears to stabilize in adulthood . The more severe autosomal recessive type develops in the adolescent period while the benign autosomal dominant variant is apparent in childhood  . The former type is associated with the symptomatology described below.
Since the hyperostotic bones of the skull create narrow cranial foramina, this leads to the compression of cranial nerves 5 (trigeminal), 7 (facial), 8 (vestibulocochlear), and 10 (vagus). Hence, the resultant manifestations include facial neuralgia, sensorineural hearing loss, and optic atrophy which can cause severe visual loss .
In addition to blindness and deafness, literature reports a case of increased intracranial pressure as a serious complication .
One study reported that VBD patients exhibit normal stature but deformed facial features such as an enlarged forehead and jaw , thereby characterizing macrocephaly and a prominent mandible as hallmark traits . Furthermore, patients are likely to experience facial palsy, which develops in early childhood or even at birth, and most have a hearing impairment .
With regards to differential diagnoses, there is a closely related disease known as sclerosteosis that can be differentiated based on physical characteristics such as tallness and hand deformity .
Patients with a clinical picture suggestive of VBD should undergo a thorough evaluation of their personal and family history, a complete physical exam, and the appropriate studies.
Bone formation biomarkers such as type I procollagen (PINP) and osteocalcin are profoundly elevated in patients with VBD  while alkaline phosphatase (ALP) may also be increased . Additionally, urinary cross-linked N-telopeptide (NTx), a marker of resorption, is also high . Sclerostin may be detectable as well .
Radiography of the hand will allow for the measurement of key parameters. For example, bone mineral density, periosteal volume, cortical thickness, and metacarpal outer and inner diameter are all increased in VBD patients . Moreover, the skull and mandible weigh heavily .
The predominant findings on imaging include significant overgrowth of the mandible and calvarium and sclerosis of involved bones . Additionally, the surface of the bones appears to be rough and interrupted .