Albers–Schonberg disease

Albers–Schönberg disease
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Synonyms	Osteopetrosis
Pronounce	N/A
Specialty	N/A
Symptoms	Bone pain, fractures, cranial nerve compression
Complications	Anemia, infections, blindness, deafness
Onset	Childhood or adolescence
Duration	Lifelong
Types	N/A
Causes	Genetic mutations
Risks	N/A
Diagnosis	X-ray, Genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Bone marrow transplant, supportive care
Medication	N/A
Prognosis	Variable
Frequency	Rare
Deaths	N/A

Albers–Schönberg disease, also known as osteopetrosis, is a rare genetic disorder characterized by the abnormal density of bones. It is named after the German radiologist Heinrich Albers-Schönberg, who first described the condition in 1903. The disease is caused by mutations in genes responsible for the development and function of osteoclasts, the cells that break down bone tissue.

Pathophysiology

In Albers–Schönberg disease, the defective osteoclasts lead to an imbalance between bone formation and bone resorption, resulting in overly dense but brittle bones. This condition is also referred to as "marble bone disease" due to the radiological appearance of the bones.

Clinical Presentation

Patients with Albers–Schönberg disease may present with a variety of symptoms, including:

• Bone pain and frequent fractures due to the brittleness of the bones.
• Cranial nerve compression, which can lead to blindness, deafness, and facial paralysis.
• Anemia and thrombocytopenia due to the reduced space for bone marrow.
• Increased susceptibility to infections.

Diagnosis

The diagnosis of Albers–Schönberg disease is typically made through:

• X-ray imaging, which reveals increased bone density and characteristic "bone within bone" appearance.
• Genetic testing to identify mutations in genes such as TCIRG1, CLCN7, and OSTM1.

Treatment

There is no cure for Albers–Schönberg disease, but treatment focuses on managing symptoms and complications. Options include:

• Bone marrow transplant, which can provide normal osteoclasts and improve bone resorption.
• Supportive care, including pain management and treatment of fractures.
• Monitoring and managing complications such as anemia and infections.

Prognosis

The prognosis for individuals with Albers–Schönberg disease varies depending on the severity of the condition and the presence of complications. Early diagnosis and treatment can improve outcomes.

Also see

• Osteogenesis imperfecta
• Paget's disease of bone
• Bone density
• Genetic disorders