What does osteopetrosis mean?

Osteopetrosis is characterized by overly dense bones throughout the body. Symptoms include fractures, low blood cell production, and loss of cranial nerve function causing blindness, deafness, and/or facial nerve paralysis. Affected individuals may experience frequent infections of teeth and the bone in the jaw.

How is osteopetrosis caused?

The X-linked type of osteopetrosis, OL-EDA-ID, results from mutations in the IKBKG gene. In about 30 percent of all cases of osteopetrosis, the cause of the condition is unknown. The genes associated with osteopetrosis are involved in the formation, development, and function of specialized cells called osteoclasts.

Why is osteopetrosis bad?

Osteoporosis causes bones to become weak and brittle — so brittle that a fall or even mild stresses such as bending over or coughing can cause a fracture. Osteoporosis-related fractures most commonly occur in the hip, wrist or spine.

Is osteopetrosis fatal?

Osteopetrosis congenita results in bone marrow failure and is almost always fatal. Marble bone disease causes short stature, cerebral calcification and mental retardation.

Is there a cure for osteopetrosis?

For people with autosomal recessive osteopetrosis, the most severe form, allogenic hematopoietic stem cell transplantation (HSCT) can cure the condition. Most signs and symptoms (bone sclerosis, bone marrow failure, and extramedullary hematopoiesis) can be prevented or reversed by HSCT.

What research is being done on osteopetrosis?

Khosla and other osteoporosis researchers are studying new imaging and computer techniques that will allow them to look inside the bone, and see specific structural characteristics. This will help them to build models of bone strength that can help predict which patients are most likely to have fractures.

Where is osteopetrosis found in the body?

Osteopetrosis is a bone disease that causes bones to be too dense, and this abnormality can lead to easily broken bones. Osteopetrosis causes special bone cells called osteoclasts to function abnormally. Normally, osteoclasts break down old bone tissue as new bone tissue grows.

Can you prevent osteopetrosis?

How do you treat osteopetrosis?

What is the pathogenesis of osteopetrosis?

Human osteopetrosis is a rare genetic disorder caused by osteoclast failure, which ranges widely in severity. In the most severe forms, deficient bone resorption prevents enlargement of bone cavities, impairing development of bone marrow, leading to hematological failure.

What’s the difference between osteoporosis and osteopetrosis?

Osteopetrosis, literally “stone bone”, also known as marble bone disease or Albers-Schönberg disease, is an extremely rare inherited disorder whereby the bones harden, becoming denser, in contrast to more prevalent conditions like osteoporosis, in which the bones become less dense and more brittle, or osteomalacia, in …

Is osteoporosis curable?

Osteoporosis treatment There’s no cure for osteoporosis, but proper treatment can help protect and strengthen your bones. These treatments can help slow the breakdown of bone in your body, and some treatments can spur the growth of new bone.

What are the symptoms of osteopetrosis in the eyes?

Symptoms that affect the eyes may include wasting away (atrophy) of the retina, eyes that appear widely spaced (hypertelorism), eyes that protrude from their orbits (exophthalmos), cross-eyes (strabismus), involuntary rhythmic movements of the eyes (nystagmus), and blindness.

Is the eye of the Tiger sign pathognomonic?

The eye of the tiger sign is most classically associated with pantothenate kinase-associated neurodegeneration​ 1-3 although it is not pathognomonic 5.

Are there any other disorders similar to osteopetrosis?

Symptoms of the following disorders may be similar to those of osteopetrosis. Comparisons may be useful for a differential diagnosis: Melorheostosis is a rare disorder resulting from abnormal development of the outer layer of the bone (cortex) which becomes hyperdense and widened.

Is there a cure for malignant infantile osteopetrosis?

Treatment Options. Actimmune (interferon gamma-1b) delays the progression of malignant infantile osteopetrosis because it causes an increase in bone resorption (breakdown of old bone tissue) and in red blood cell production. A bone marrow transplant is the only complete cure available for malignant infantile osteopetrosis.