Carpal tarsal osteolysis (CTO) is an uncommon condition characterized by the spontaneous resorption of the carpal bones (Fig. 5). Although the cause of osteolysis is still unknown, the condition has shown both autosomal dominant and recessive inheritance patterns in addition to spontaneous occurrence . Several physical findings may be associated with CTO, including abnormal skull shape, micrognathia, high-arched palate, decreased height, and scoliosis . CTO is also frequently associated with renal dysfunction, which is the leading cause of mortality in affected patients [45,46].
Children who have carpal tarsal osteolysis have normal cartilaginous carpal precursors in infancy. As the carpus begins to ossify between ages 2 and 5 years, CTO presents as an acute arthritis with swelling of the wrists and ankles followed by a period of slow, painless osteolysis
. Often misdiagnosed as juvenile rheumatoid arthritis (JRA), CTO can be distinguished from JRA based on a the absence of (1) elevated acute phase reactants, (2) inflammatory change on biopsy specimens, and (3) characteristic radiographic findings for JRA (ie, thickened cortices of carpals and phalanges caused by periosteal changes, true subchondral erosion, and spontaneous bony fusion) .
No definitive treatment currently exists for CTO. Nonsteroidal anti-inflammatory drugs (NSAIDs) can be administered for analgesia during painful episodes, and physical therapy and splints worn for stabilization can provide some relief during symptomatic periods and help maintain functional positions, but they do not influence the progression of the disease . Over time, the entire carpus may be resorbed, resulting in gross instability and dislocation of the hand (Fig. 6). Although the wrist is unstable, extrinsic and intrinsic musculotendinous function is preserved, as is active flexion and extension of the metacarpophalangeal and interphalangeal joints. Manual dexterity may remain surprisingly functional, albeit weak, and surgery is rarely indicated .
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