Hyperostosid corticalis deformans juvenilis

Hyperostosis Corticalis Deformans Juvenilis, more commonly known as Van Buchem's disease, is a rare genetic disorder characterized by the excessive growth of the bone's outer layer, leading to various skeletal abnormalities. This condition is a form of sclerosing bone dysplasia, primarily affecting the skull, mandible, clavicles, ribs, and diaphyses of long bones. The disease manifests in early childhood and progresses as the individual ages.

Symptoms and Diagnosis

The hallmark symptoms of Hyperostosis Corticalis Deformans Juvenilis include facial deformities due to bone overgrowth, hearing loss, and nerve compression syndromes, such as facial nerve palsy. The excessive bone growth can also lead to dental problems, including malocclusion and delayed tooth eruption. Diagnosis is primarily based on clinical examination, family history, and radiographic findings that reveal thickened cortical bone.

Etiology

Hyperostosis Corticalis Deformans Juvenilis is caused by mutations in the SOST gene, which encodes sclerostin, a protein that plays a critical role in bone formation and remodeling. The absence or dysfunction of sclerostin leads to unchecked bone growth. The condition is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.

Treatment

There is no cure for Hyperostosis Corticalis Deformans Juvenilis, and treatment focuses on managing symptoms and improving quality of life. Surgical interventions may be necessary to correct deformities and relieve nerve compression. Hearing aids and other assistive devices may be beneficial for those with hearing loss. Regular monitoring and supportive care are essential to address the various complications that can arise from this condition.

Prognosis

The prognosis for individuals with Hyperostosis Corticalis Deformans Juvenilis varies. While the condition does not typically affect life expectancy, the quality of life can be significantly impacted by the severity of symptoms. Early intervention and comprehensive care can help manage the condition effectively.

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