Osteolytic disease of the bones have a myriad range of aetiology. One rare cause is Gorham’s disease or disappearing bone disease. This disease is a diagnosis by exclusion using correlation made with clinical presentation, radiological findings and histopathological confirmation. Although many different therapies have been advocated, none have been successful in fully controlling this disease. We present a case that was detected in a Chinese lady using diagnostic imaging, confirmed with computed tomography guided biopsy and successfully treated with joint reconstruction using endoprosthesis.
Osteolysis, Essential

Multicentric disappearing bone disease, or Gorham disease, is a rare entity. A middle age woman, presented to us with left sided antalgic gait and severe bony deformity of her left knee. Radiograph revealed massive bone defect of the medial condyle of the left tibia with subluxation of the knee joint. She was scheduled for knee replacement in six months. However, she developed another lesion over the right hip that typically mimicked the disease progression of disappearing bone disease. The right femoral head vanished progressively within three months without significant history of infection or trauma. Subsequent bone biopsy of the right femoral head and left tibia condyle confirmed the diagnosis. Total knee replacement was carried out for her left knee. She remained pain free on her left knee. A year later, after confirming by sequential radiographs that the osteolysis had stopped, total right hip replacement was performed. Five years later, she remained pain free and both the arthroplasties were stable.
Osteolysis, Essential

No abstract available.
Osteolysis*

PURPOSE: To evaluate the plain radiographic findings of bone and joint changes following electrical burn. MATERIALS AND METHODS: This study involved 19 patients with 27 bone and joints regions which had sufferedelectrical injury. The most common input and output sites were, respectively, the hand(7/14) and foot (6/10).Three other sites were involved. Four cases involved osteomyelitis, and in four, amputation was performed. Weobserved bone and joint changes, changes following osteomyelitis and changes in the amputation stump. We analyzedthe difference between input and output changes, and when this was interesting, the average time of onset wasassessed. RESULTS: In bone and joint changes following electrical burn, the most frequent radiographic findingwas joint contracture (n=16). Other findings included osteolysis (n=8), articular abnormalites (n=6), periostitis(n=5), fracture (n=5), acro-osteolysis (n=2), and heterotopic bone formation (n=2). In cases involvingosteomyelitis(n=4), aggravation of underlying bone changes was noted. CONCLUSION: In electrical burn, variouschanges were noted in bone and joints, and input injury was more severe than that of output.
Acro-Osteolysis ; Amputation ; Amputation Stumps ; Burns* ; Contracture ; Foot ; Humans ; Joints* ; Osteogenesis ; Osteolysis ; Osteomyelitis

Hajdu-Cheney syndrome (HCS) is a rare skeletal dysplasia that is characterized by acroosteolysis of the distal phalanges, distinctive craniofacial and skull changes, dental abnormalities and generalized osteoporosis. The clinical and radiologic characteristics are variable and these characteristics progress with age. This syndrome shows autosomal dominant inheritance with sporadic cases. The genetic defects or molecular pathogenesis of HCS are still unknown. We experienced a case of Hajdu-Cheney syndrome in a 20-year-old man who had generalized osteoporosis with multiple non-traumatic spine compression fractures. He had acroosteolysis of the hands and feet, wormian bones in the skull, facial dysmorphism (mid-facial flattening, micrognathia and bushy eyebrows), a high arched palate, malocclusion and short dental alveolar processes. HCS was diagnosed based on the clinical and radiologic evidence. For the differential diagnosis, we excluded the other possible causes of the acroosteolysis and wormian bones, including hyperparathyroidism, osteogenesis imperfecta, hypophosphatemia and mandibuloacral dysplasia. The specific treatment of HCS is unknown, but case reports with bisphosphonate treatment have been reported.
Acro-Osteolysis ; Alveolar Process ; Diagnosis, Differential ; Foot ; Fractures, Compression ; Hajdu-Cheney Syndrome ; Hand ; Humans ; Hyperparathyroidism ; Hypophosphatemia ; Malocclusion ; Osteogenesis Imperfecta ; Osteoporosis ; Palate ; Skull ; Spine ; Wills ; Young Adult

Gorham disease is a rare disorder characterized by proliferation of vascular channels resulting in destruction and resorption of osseous matrix. There is no standard treatment defined for this disease, and variable therapies such as medical, surgical, and radiation therapy have been used. Antiresorptive medication, such as bisphosphonate, is used in Gorham disease because they suppress the course of osteolysis and angiogenisis. We report a 9-year-old boy with Gorham disease, who was presented with recurrent hemothorax and treated by pamidronate. After treatment, he showed no recurrence of hemothorax for more than 2 years.
Child ; Diphosphonates ; Hemothorax ; Humans ; Osteolysis ; Osteolysis, Essential ; Recurrence

Free Tissue Flaps ; Humans ; Mandible ; Osteogenesis ; Osteolysis ; Osteolysis, Essential

In systemic sclerosis, digital ulcers and gangrene are somewhat common clinical characteristics of obliterative vasculopathy. These manifestations increase morbidities, such as pain, infections, and acroosteolysis. However, patient responses to the appropriate treatments are often inadequate. We treated a patient with systemic sclerosis who had a refractory digital ulcer and gangrene with bosentan, an endothelin receptor antagonist, and observed improvement. Here we systematically review this case.
Acro-Osteolysis ; Gangrene* ; Humans ; Receptors, Endothelin ; Scleroderma, Systemic* ; Ulcer*

Hajdu-Cheney syndrome is a rare, autosomal dominant skeletal dysplasia marked by acro-osteolysis of the distal phalanges and severe osteoporosis. Although there are more than 60 reports published to date, proper treatment and subsequent outcome have been scarce. Herein, we report a progress of anti-resorptive therapy with zoledronic acid, in a woman with Hajdu-Cheney syndrome. Results suggest that anti-resorptive therapy may be important in delaying the progress of osteoporosis and preventing fractures, but not necessarily acro-osteolysis itself.
Acro-Osteolysis/complications/*drug therapy ; Adult ; Bone Density Conservation Agents/*therapeutic use ; Diphosphonates/*therapeutic use ; Female ; Hajdu-Cheney Syndrome/complications/*drug therapy ; Humans ; Imidazoles/*therapeutic use ; Osteoporosis/complications/*drug therapy

Primary hypertrophic osteoarthropathy or pachydermoperiostosis is a rare hereditary disorder characterized by digital clubbing, pachydermia and periostosis. Its precise incidence and prevalence is still unknown due to the lack of controlled data. It occurs without any underlying causes and usually has a chronic course. Life expectancy may be of normal standards, but many patients develop multiple functional and cosmetic complications. So, it is important to diagnose this disease at an early stage and to treat the symptomat for the quality of life. We report a case of primary hypertrophic osteoarthropathy in a 68-year-old male with clinical features such as digital clubbing and pachydermia, radiographic findings of acroosteolysis and periosteal new bone formation.
Acro-Osteolysis ; Aged ; Humans ; Incidence ; Life Expectancy ; Male ; Osteoarthropathy, Primary Hypertrophic ; Quality of Life