Osteogenesis imperfecta type V

Autor: Peter Kei Tat Hui, Joanna Y. L. Tung, M. T. Chau, Wendy W. M. Lam
Rok vydání: 2011
Předmět:
Zdroj: Skeletal Radiology. 40:1633-1633
ISSN: 1432-2161
0364-2348
DOI: 10.1007/s00256-011-1236-x
Popis: Osteogenesis imperfecta type V was first described in 2000. It is a distinct clinical entity with unique clinical, radiological, and histological features. Clinically, it is only moderately deforming. Patients have normal scleraand teeth. Radiological diagnostic criteria include a triad of calcification of the radioulnar interosseous membrane, presence of hypertrophic callus at fractures or post-operative sites, and radiodense metaphysealbandadjacenttogrowthplates(1). Histologically, it is distinguished by a mesh-like pattern of lamellation under polarized light microscopy for iliac bone samples. Ossification of the interosseous membrane of the forearm is a constant feature, although it may vary in its extent. The presence of ossification can severely limit movements of the forearm, and is associated with secondary dislocation of the radial head (1, 2). The frequency of radial head dislocation/subluxation is significantly higher in type V osteogenesis imperfecta (86%) than in the other types (0% to 29%) (3). The presence of interosseous membrane ossification in a pediatric patient, with or without radial head dislocation, should prompt radiologists to consider OI type Vas a diagnosis. The formationof hypertrophic callus, if present, isthe most conspicuous clinical symptom in OI type V (1). It is reported that while not all OI type V patients have hypertrophic callus formation, all patients with hypertrophic callus formation are OI type V in the proper clinical context (1, 4). Lesions form during the growth years at sites of rapid periosteal apposition. The long bones are most often affected, particularly in the lower extremities (4). Hypertrophic callus can be precipitated by fracture or surgery, or arise spontaneously. It can become very large or even mimic osteosarcoma (2, 5). In unclear cases, MRI and CT can be helpful in distinguishing hypertrophic callus from sarcoma (6, 7). Evolution of the lesions is variable, ranging from complete resolution to significant persisting morbidity.
Databáze: OpenAIRE
načítá se...