Osteopetrosis

Osteosclerosis, also known as marble bone disease or Albers-Schonberg disease, is a genetic bone disease characterized by increased bone density and impaired resorption of osteoclasts. It can be divided into autosomal dominant osteosclerosis (ADO), autosomal recessive osteosclerosis (ARO), and rare X-linked osteosclerosis (XLO) according to clinical manifestations and causative genes [1–6]. The average incidence is 5/100000 for ADO, 1/250000 for ARO, and even lower for XLO. Osteosclerosis has extensive heterogeneity in clinical features: some patients may present with fatal clinical manifestations such as anemia, pancytopenia, septicopyemia, and secondary hepatosplenomegaly; some patients may also be asymptomatic or have mild symptoms, which can only be detected by skeletal imaging [3–6]. Imaging diagnosis is mainly used, and further typing can also be achieved in combination with genetic testing. Treatment requires a multidisciplinary approach for symptomatic treatment of some serious complications. The main treatment options are vitamin D medication, steroids, and bone marrow transplantation, etc.