Symptoma

Massive Osteolysis

Gorham Disease

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]

  • Poor Growth

    These complications or their symptoms, such as difficulty breathing, chest pain, poor growth or weight loss, and infection have sometimes been the first indications of the condition. The specific cause of Gorham's disease remains unknown. [en.wikipedia.org]

  • 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]

  • Tinnitus

    Case History: A 40-year-old male patient presented himself in 2000 with a right-sided hearing loss and tinnitus for about nine month. He also developed dysphonia and dysphagia followed by headache and neck pain with nausea and emesis. [ashg.org]

  • Decrease in Height

    […] vertical height of the mandibular body with the resorption extended towards the basal bone [1] [Figure 1]. [jomfp.in]

  • 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]

  • Hyperactivity

    They further stated that their histopathological study provided good evidence that osteolytic changes seen in Gorham's disease are the result of hyperactive osteoclastic bone. [en.wikipedia.org]

    Delling Hamburg University School of Medicine, Hamburg, Germany X Study provides good evidence of hyperactive osteoclastic bone resorption causing osteolytic changes. [psykick.de]

    They further stated that their histopathological study provided good evidence that osteolytic changes seen in Gorham’s disease are the result of hyperactive osteoclastic bone. [lgdalliance.org]

    Typical histological findings include local osteoclastic hyperactivity and proliferation of small thin-walled arterial or lymphatic vessels (angiomatosis) [ 3 – 7 ]; radiological features include massive progressive osteolysis that does not respect anatomical [hindawi.com]

    Deep tendon reflexes were hyperactive and equal bilaterally in both upper and lower limbs. Bowel and bladder function was normal. Radiographs of the cervical spine revealed atlantoaxial dislocation due to osteolysis. [jstage.jst.go.jp]

  • 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 Disorder

    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]

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]

In general, no single treatment modality has proven effective in arresting the disease. [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]

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]

The syndrome is rarely seen in the facial skeleton and has a variable prognosis. Many treatments have been advocated but only surgery and radiotherapy have had some success. [ncbi.nlm.nih.gov]

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]

Vanishing bone disease (Gorham's disease) - A rare occurrence of unknown etiology. Indian J Pathol Microbiol 2012;55:399-401 How to cite this URL: Ray S, Mukhopadhyay S, Bandyopadhyay R, Sinha SK. [ijpmonline.org]

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]

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]

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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]

Expanded section on bisphosphonate-related osteonecrosis of the jaws helps you effectively manage patients taking bisphosphonates to prevent bone loss, including information on oral complications, risk factors, and benefits. [books.google.com]

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