pediatrics
Osteosclerosis
Osteopetrosis with delayed manifestations (Albers Schönberg disease)
This type of osteopetrosis is Autosomal Dominant , manifesting during childhood, adolescence, or young adulthood. It is less severe than Osteopetrosis with delayed manifestations is relatively common and has a wide geographic and ethnic distribution. Affected people may be asymptomatic; general health is usually unimpaired. However, facial palsy and deafness may occur due to cranial nerve entrapment. Bony overgrowths may narrow the marrow cavity and cause cytopenias ranging from anemia to pancytopenia. Extramedullary hematopoiesis may occur, resulting in hepatosplenomegaly; consequent hypersplenism may worsen anemia. The skeleton usually is radiologically normal at birth. However, bone sclerosis becomes increasingly apparent as children age, and diagnosis is typically based on x-rays done for unrelated reasons. Bony involvement is widespread but patchy. The calvaria is dense, and sinuses may be obliterated. Sclerosis of the vertebral end plate causes the characteristic rugby-shirt appearance (horizontal banding). Some patients require transfusion or splenectomy to treat anemia. 