Osteogenesis imperfecta: a case with hand deformities

Abstract

In a 51-year-old woman with a history of fractures and dislocations after low intensity trauma in childhood, intensive blue sclera, short stature, and hearing loss, the diagnosis of osteogenesis imperfecta (OI) was suspected. She was referred to our clinic with hand deformities and left knee pain and stiffness. She had difficulty in walking and reported a history of immobilization for 6 months because of knee pain. She had bilateral flexion contracture of the elbows which occurred following dislocations of the elbows in childhood. She had Z deformity of the first phalanges, reducible swan-neck deformity of the third finger of the left and the second finger of the right hand, flexion contracture of the proximal interphalangeal joint of the fifth finger of the left hand, and syndactyly of the third and fourth fingers of the right hand. Flexion contractures of both knees were observed. Pes planus and short toes were the deformities of the feet. Acute phase reactants of the patient were normal. She had no history of arthritis or morning stiffness. Bone mineral density evaluated by dual-energy X-ray absorptiometry (DEXA) showed severe osteoporosis of the femur and lumbar vertebrae. She had radiographic evidence of healed fractures of the left fibula, the third metacarpal, and the fourth and fifth middle phalanges of the right hand. OI, affecting the type I collagen tissue of the sclera, skin, ligaments, and skeleton, presenting with ligament laxity resulting in subluxations and hand deformities may be misdiagnosed as hand deformities of rheumatoid arthritis.

Effect of human trabecular bone composition on its electrical properties

“…Indeed, some bone diseases are characterized by alterations in bone organic composition [2][3][4]. This raises a question whether some techniques, such as electrical measurements, sensitive to changes in bone mineral density (BMD) would be also capable of detection of pathological changes in organic composition and would facilitate a more in-depth investigation of bone health.…”

Tendon and ligament: Development, repair and disease

“…The cause of this variation between these two cell types is unknown. Although the proportion of mutant collagen has not been studied in T/L cells, ligament laxity (Mirzayan et al,2000; Oz et al,2005) and tendon rupture (McKiernan,2005) have been reported in OI patients. This is consistent with the significant reduction in the mechanical strength of tail tendon (in addition to the bone defects) observed in the OI mouse model (Misof et al,1997).…”

The Relationship Between Generalized Joint Hypermobility and Adhesive Capsulitis of the Shoulder

“…Some patients with these diseases, have reported congenital joint and soft tissue contractures accompanying joint hypermobility, which is contrary to the hypothesis of this study. [46,47] In BJHS, a nonpathogenic polymorphism occurs due to minor variations in the extracellular matrix genes, for example collagen, elastin, and fibrillin. With MS, EDS and OI, major variations and variations in the protein-binding points occur in the extracellular matrix genes, leading to severe organ disorders.…”