Osteólisis multicéntrica carpotarsal

Abstract

Osteolysis are rare diseases characterized by destruction and subsequent bone resorption. Although osteolysis have an unknown pathogenetic basis, they result in anatomic and functional disabilities related to the place and severity of the affected bones. A boy with previous neurologic damage is presented, affected by a multicentric carpotarsal osteolysis (also named idiopathic multicentric osteolysis) without nephropathy and with dominant transmission. Although at first the boy was believed to be affected by idiopathic chronic arthritis, the family history and the absence of inflammation biological markers aroused suspicions about osteolysis. The ulterior studies and the patient evolution confirmed this diagnosis. Nowadays, the boy is affected by carpal bilateral and tarsal unilateral bone lesions of little clinical significance considering his severe neurologic damage. His father, despite being affected by idiopathic multicentric osteolysis which caused the absence of carpal bones, shows excellent functional abilities working as a driver. This rare disease must be well-known in order to avoid wrong diagnoses develop adequate control strategies and offer genetic counseling to the affected families.