SNP Shot: Genomic Insights

Camurati-Engelmann disease is a skeletal disorder marked by excessive bone thickening (hyperostosis), primarily affecting the bones of the arms, legs, and skull.

The thickened bones in the limbs can result in bone pain, muscle weakness in the arms and legs, and easy fatigability. The intensity of bone pain varies from mild to severe and can be exacerbated by stress, physical activity, or cold temperatures. Weakness in the legs can make it challenging to rise from a seated position, and some individuals may develop an unsteady or waddling gait. Other limb issues can include joint contractures, knock knees, and flat feet (pes planus). Swelling and redness (erythema) in the limbs, as well as an abnormal curvature of the spine, may also occur.

Individuals with Camurati-Engelmann disease can exhibit an unusually thick skull, potentially leading to an enlarged head (macrocephaly) and lower jaw (mandible), a prominent forehead (frontal bossing), and bulging eyes with shallow eye sockets (ocular proptosis). These head and face changes become more pronounced with age, particularly in adults. In roughly 25% of individuals, skull thickening can increase pressure on the brain or compress the spinal cord, potentially causing neurological complications such as headaches, hearing loss, vision problems, dizziness (vertigo), ringing in the ears (tinnitus), and facial paralysis.

The extent of bone thickening (hyperostosis) and the age of symptom onset can vary significantly among individuals with Camurati-Engelmann disease.

Other, less common features of this disease include disproportionately long limbs relative to height, decreased muscle mass and body fat, delayed teething (dentition), frequent cavities, delayed puberty, anemia (a shortage of red blood cells), enlarged liver and spleen (hepatosplenomegaly), thinning skin, and excessive sweating (hyperhidrosis) of the hands and feet.

Inheritance:

Camurati-Engelmann disease follows an autosomal dominant inheritance pattern, meaning that only one copy of the mutated gene in each cell is necessary to cause the condition. In some cases, the affected individual inherits the gene change from an affected parent. However, the disorder can also arise from a new gene mutation in individuals with no family history of the condition. Furthermore, some individuals who carry the altered gene may never develop the disease, a phenomenon known as reduced penetrance.