Causes and risk factors
Histologically, bone consists of medullary cavity, surrounded by spongy bone surrounded by periosteum. Medullary cavity contains cylindrical structures called osteon, which contain Haversian canal. The condition is characterized by presence of patches of dense cortical like bone complete with Haversian canals located within the spongiosa, deep to the cortex. The cause is unknown, but it is said to be passed genetically. It is an autosomal dominant disorder. The condition develops in childhood and persists throughout the life. Recent study shows that the disease condition is caused due to loss of function mutation in LEMD3 gene.
Clinical presentation
Most patients do not exhibit symptoms. The joints or bones which are prone to develop osteopoikilosis include epiphysis and metaphysis of long bones, carpus, tarsus, pelvis and scapula. Slight articular pain is experienced by some patients. Bone pain can occur. Joint effusion can occur. The condition is diagnosed only after an x-ray. There are oval or round areas of increased bone density, especially in the periarticular areas. Symmetrical distribution is seen. White colored fibrocartilaginous infiltrations are seen in some cases.
Investigations
Medical history by the patient and clinical examination by the doctor helps in diagnosis. X-ray of affected bones reveal round or oval shaped areas of increased bone density. There may also be presence of cancerous growth on the bone. Imaging studies such as CT, MRI may be useful for further evaluation.
Treatment
No treatment is required for asymptomatic patients. Symptomatic treatment with analgesics is helpful.
Complications
Complications such as cancer of bone occur. Scleroderma [sclerosis of skin], dwarfism [stunted growth], endocrine abnormalities. Cleft palate may occur.
Systems involved
Skeletal system, genetic system
Organs involved
Bones
