Current and emerging treatments for the management of osteogenesis imperfecta.

[dentinogenesis imperfecta]

Osteogenesis imperfecta (OI ) is the most common bone genetic disorder and it is characterized by bone brittleness and various degrees of growth disorder . Clinical severity varies widely ; nowadays eight types are distinguished and two new forms have been recently described although not yet classified . The approach to such a variable and heterogeneous disease should be global and therefore multidisciplinary . For simplicity , the objectives of treatment can be reduced to three typical situations : the lethal perinatal form (type II ), in which the problem is survival at birth ; the severe and moderate forms (types III -IX ), in which the objective is 'autonomy '; and the mild form (type I ), in which the aim is to reach 'normal life '. Three types of treatment are available : non-surgical management (physical therapy , rehabilitation , bracing and splinting ), surgical management (intramedullary rod positioning , spinal and basilar impression surgery ) and medical-pharmacological management (drugs to increase the strength of bone and decrease the number of fractures as bisphosphonates or growth hormone , depending on the type of OI ). Suggestions and guidelines for a therapeutic approach are indicated and updated with the most recent findings in OI diagnosis and treatment .

Diseases
Validation

Diseases presenting "treatment" symptom

22q11.2 deletion syndrome

achondroplasia

acute rheumatic fever

aniridia

congenital toxoplasmosis

dentinogenesis imperfecta

erdheim-chester disease

esophageal carcinoma

homocystinuria without methylmalonic aciduria

lymphangioleiomyomatosis

megacystis-microcolon-intestinal hypoperistalsis syndrome

neuralgic amyotrophy

oligodontia

pleomorphic liposarcoma

primary hyperoxaluria type 1

pyomyositis

scrub typhus

severe combined immunodeficiency

von hippel-lindau disease

wiskott-aldrich syndrome

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