Edit concept Question Editor Create issue ticket

Massive Osteolysis

Gorham Disease


Presentation

  • X-ray findings are usually more severe than expected from the patients' clinical presentation. Laboratory studies, including attempts at biopsy, are generally unrevealing.[ncbi.nlm.nih.gov]
  • Patients with thoracic involvement may present respiratory distress (caused by chylothorax). Severe neurological defects and paralysis, secondary to vertebral involvement, are also observed.[orpha.net]
Hunting
  • Aviv RI, McHugh K, Hunt J. Angiomatosis of bone and soft tissue: a spectrum of disease from diffuse lymphangiomatosis to vanishing bone disease in young patients. Clin Radiol. 2001 Mar;56(3):184-90.[lgdalliance.org]
Soft Tissue Swelling
  • During preoperative evaluation, repeat radiographs showed extensive osteolysis of the femoral head, neck, and acetabulum and soft tissue swelling.[healio.com]
Decrease in Height
  • […] vertical height of the mandibular body with the resorption extended towards the basal bone [1] [Figure 1].[jomfp.in]
Osteophyte
  • Radiologically, in contrast to the classic form of osteoarthritis, progressive and rapid joint destruction in the absence of osteophytes was noted.[healio.com]
Torticollis
  • & cervical spine Lump in temporal region, head-ache, deafness, paraplegia, & Arnold-Chiari malformation Pamidronate, laminectomy, & RT Progression of disease; death from chylothorax Lekovic et al. (2006) 10 10 M Clivus, petrous, & C1–2 Painful neck, torticollis[jstage.jst.go.jp]
Foul Body Odor
  • Peculiar clinical episodes of a foul body odor with fever and erythematous skin lesions, presence of radiographic findings such as acro-osteolysis and periarticular erosions, and the absence of angiomatous or lymphangiomatous dysplasias at autopsy, indicate[ncbi.nlm.nih.gov]
Facial Swelling
  • Upon examination, there were bilateral palpable submandibular lymph nodes with no obvious facial swelling.[omicsonline.org]
Neurologic Manifestation
  • These lesions were accompanied by neurologic manifestations in both the upper and lower extremities. Bone matrix collagen and noncollagenous proteins in this rare syndrome were analyzed. The pathogenesis of this rare phenomenon is discussed.[ncbi.nlm.nih.gov]
Spastic Gait
  • He then presented with facial hypoesthesia, deglutition disorder, and spastic gait. MRI revealed spinal cord and medulla oblongata compression at the level of the basilar impression.[jstage.jst.go.jp]
Speech Disorders
  • disorder Biopsy Progression of disease; death from transection of spinal cord at C4 Hoffman et al. (1980) 7) 7 F Petrous, sphenoid, & C1–2 Cerebrospinal fluid rhinorrhea, meningitis, torticollis, & headache RT AD; remineralization Kurczynski et al. ([jstage.jst.go.jp]
Confusion
  • J Oral Surg 29: 659–663, 1971 5) Girn HR, Towns G, Chumas P, Holland P, Chakrabarty A: Gorham’s disease of skull base and cervical spine—confusing picture in a two year old.[jstage.jst.go.jp]

Workup

  • X-rays, CT scans, MRIs, ultrasounds, and nuclear medicine (bone scans) are all important tools in the diagnostic workup and surgical planning, but none has the ability alone to produce a definitive diagnosis.[en.wikipedia.org]
  • The diagnosis essentially is one of exclusion and must be based on combined clinical, radiological and histopathological findings. 9 X-rays, CT, MRI, ultrasound, and nuclear medicine (bone scans) are all important tools in the diagnostic workup and surgical[lgdalliance.org]
  • The patient was taking no other chronic medications, had a normal BMI and blood pressure, and had a normal laboratory workup. One week later, due to continued and worsening headaches, he was admitted for further headache management.[karger.com]
Joint Space Narrowing
  • Imaging evaluation revealed lumbar spine degenerative signs and minimal hip joint space narrowing. Two months later the patient presented with continuous severe pain.[healio.com]
Staphylococcus Aureus
  • Staphylococcus aureus was isolated in blood cultures. Physical examination revealed an ulcerative lesion of the scalp, which was considered to be the entry point of the microorganism.[healio.com]
  • At 1 year after that surgery, he developed incisional surgical site methicillin-resistant Staphylococcus aureus infection (SSI) and rhinolalia due to mucosal defect in the epipharynx.[jstage.jst.go.jp]

Treatment

  • The etiology and most effective treatment for this nonhereditary condition remain controversial in the medical literature.[ncbi.nlm.nih.gov]
  • Management and treatment Treatment of GSD includes drugs (bisphosphonates and/or interferon alpha 2b, sirolimus is also being studied) to stabilize progressive disease, and supportive procedures that may reduce or halt chylothorax (pleurectomy, pleurodesis[orpha.net]
  • This did not cause any complications with her treatments, and she reported doing well at each on-treatment visit. Her pain began to improve significantly as the treatment dose approached the prescribed dose.[appliedradiationoncology.com]

Prognosis

  • Prognosis Prognosis depends on the extent and location of affected areas. Mild disease may remain stable for many years, while severe cases involving the craniofacial and/or thoracic areas may be fatal.[orpha.net]
  • Autopsy revealed vascular proliferation in the parietal and visceral pleura as well as in the ribs, which seemed to cause persistent chylothorax responsible for the poor prognosis of this patient.[ncbi.nlm.nih.gov]

Etiology

  • This disease of uncertain etiology is pathologically marked by resorption of bone, and replacement by angiomas and fibrosis. X-ray findings are usually more severe than expected from the patients' clinical presentation.[ncbi.nlm.nih.gov]
  • Etiology Etiology of GSD is still elusive.[orpha.net]
  • Despite the extensive investigation of the pathogenetic mechanisms of the disease, its etiology hasn't been clarified and several theories exist.[scholar.uoa.gr]

Epidemiology

  • Patient Population: Prevalence and Epidemiology Knee // Shoulder & Elbow // Hip // Spine // Foot & Ankle // Hand & Wrist Fragility Fractures: Diagnosis and Treatment Shoulder & Elbow The Characteristics of Surgeons Performing Total Shoulder Arthroplasty[mdedge.com]
  • Summary Epidemiology To date around 300 cases have been reported in the literature. GSD does not display a clear race, sex predilection (1.6:1; male: female ratio) or geographic distribution.[orpha.net]
  • Epidemiology Haemangiomas are relatively common. Autopsy studies report in 10 to 12% of the population spinal haemangiomas.[atlasgeneticsoncology.org]
Sex distribution
Age distribution

Pathophysiology

  • The etiology and pathophysiology of the disease remain obscure. Chemo- and radiotherapeutic attempts at arresting the osteolytic process are generally unsuccessful. Bone grafting has proved disappointing, as the graft usually undergoes osteolysis.[ncbi.nlm.nih.gov]
  • The pathophysiology of GSS is unknown; however, microscopic findings revealed vascular proliferation in the bone without malignant potency. The bone tissue is replaced by vascular tissue, but bone regeneration does not occur.[e-sciencecentral.org]
  • […] pantologic, pantology, papryrologist, papyrology, paradoxology, paralogia, paralogism, paralogistic, paralogize, parapsychology , parasitology, pareschatology, parhomologous, paromology, pathobiology, pathological, pathologically, pathologist, pathology, pathophysiology[dentisty.org]

Prevention

  • This suggests that early potent antiresorptive therapy such as with calcitonin or bisphosphonates may prevent local progressive osteolysis.[ncbi.nlm.nih.gov]
  • In case of severe symptoms, the outlook may be guarded Please find comprehensive information on Gorham-Stout Disease regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis[dovemed.com]
  • Neoadjuvant radiotherapy and INF-α were used to suppress the disease, and resection of the sternum and the rib cartilage was performed to prevent recurrence.[e-sciencecentral.org]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!