Marble bones disease, also known as osteopetrosis or Albers-Schönberg disease, is a rare genetic disorder characterized by the abnormal accumulation of dense and brittle bone tissue in the skeletal system. This condition causes the bones to become hardened and marble-like, hence the name "marble bones disease."
Individuals with marble bones disease experience a variety of symptoms, including bone pain, fractures, growth abnormalities, and an increased susceptibility to infections. As the build-up of excess bone mass affects other tissues and organs, patients may also encounter vision and hearing impairments, dental problems, anemia, and an enlarged liver and spleen.
Marble bones disease is usually caused by genetic mutations that disrupt the normal function of osteoclasts, which are the cells responsible for breaking down and reabsorbing old bone tissue. This disruption leads to an imbalance between bone formation and resorption, resulting in the overproduction and accumulation of excessive bone mass. This excessive bone growth can lead to loss of bone marrow space, which is required for the production of blood cells, potentially leading to anemia and other blood-related complications.
Treatment options for marble bones disease are limited and mainly focus on managing symptoms and preventing complications. These may include physical therapy, surgical interventions to address fractures or cranial nerve compression, and hematopoietic stem cell transplantation in severe cases to restore normal bone marrow function.
Due to the rarity and complexity of marble bones disease, individuals affected by this condition often require lifelong medical monitoring and comprehensive care from a multidisciplinary team of specialists.
