Presentation
We present a case involving the cervical and thoracic spine and part of the osseous hemithorax with attention to the MR findings. [scinapse.io]
A case of Gorham's disease involving the proximal femur of a 12-year-old girl is presented. [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]
However, hemangiomas present limited growth, with a tendency to preserve cortical bone stocks, and do not present dissemination to the adjacent soft tissues(3). [rbo.org.br]
Entire Body System
- Swelling
From Wikidata Jump to navigation Jump to search A syndrome that is characterized by bone loss (osteolysis) which is often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). [wikidata.org]
This paper describes two patients with MO who presented with massive assymetric swelling of the skull. [ncbi.nlm.nih.gov]
There may be pain, swelling, or fracture of the affected bones. [dovemed.com]
It started approximately 3 months from the first dental visit where she noted an increase in size but generally painless gingival swelling. She reported a toothache-like pain prior to the swelling but there was no bleeding or pus seen. [omicsonline.org]
- Asymptomatic
To our knowledge, we present the first case of post-traumatic Gorham disease that includes MR imaging (before and after radiation therapy), post-radiation CT with evidence of treatment effect (sclerosis), as well as asymptomatic bilateral renal lymphangiomata [ncbi.nlm.nih.gov]
The clinical presentation of a patient suffering from vanishing bone disease includes, pain, functional impairment and swelling of the affected region, although asymptomatic cases have been reported, as well as cases in which the diagnosis was made after [scholar.uoa.gr]
She remained asymptomatic, and a repeat MRI done 6 months later revealed no further soft tissue invasion by lymphatics ( Figure 3 ). Figure 2. [circimaging.ahajournals.org]
These patients may remain asymptomatic until suffering a bone fracture spontaneously or after minor trauma. Keywords: Osteolysis; Spontaneous fractures; Rare diseases; Gorham- Stout syndrome. [go.gale.com]
- Severe Pain
The left side showed comparable radiologic findings but the patient did not complain of severe pain and did not require surgical therapy (Figure 5 ). [hindawi.com]
She was successfully treated with radiation therapy (RT) and had a complete pain response. She returned to the clinic several months ago with severe pain in the right hip, requiring hospitalization. [appliedradiationoncology.com]
Two months later the patient presented with continuous severe pain. She had abnormal gait, limp, 1-cm leg length discrepancy, and decreased range of motion with limited hip extension, abduction, and external rotation. [healio.com]
It sometimes causes significant debility with severe pain, joint contracture, skin ulcers. There are several reports that bisphosphonates therapy may affect calcinosis cutis. [ccmbm.com]
Gastrointestinal
- Nausea
It was described as frontal in location, severe, throbbing, and squeezing, and with associated nausea and vomiting, photophobia, and phonophobia. A consistent positional worsening while lying supine was not reported. [karger.com]
He also developed dysphonia and dysphagia followed by headache and neck pain with nausea and emesis. The CT scan showed a pronounced osseous destruction of the skull base. [ashg.org]
- Vomiting
His medical history was significant for a mild growth retard and feeding difficulties with recurrent vomiting since the 6th month. A chest radiograph showed left pleural effusion. [bone-abstracts.org]
It was described as frontal in location, severe, throbbing, and squeezing, and with associated nausea and vomiting, photophobia, and phonophobia. A consistent positional worsening while lying supine was not reported. [karger.com]
Musculoskeletal
- Osteoporosis
Near-total destruction of the right clavicle and scapula with disuse osteoporosis of the proximal humerus. (A) Chest X-ray; (B) magnified view of the right shoulder. F ig. 1. [academic.oup.com]
A 54-year-old male with a 10-year history of seropositive rheumatoid arthritis subsequently developed generalized osteoporosis, multiple cervical spine subluxation, vertebral collapses, and massive osteolysis of the humeral and femoral heads and carpal [ncbi.nlm.nih.gov]
His bone mineral density showed osteoporosis by a dual-energy X-ray absorptiometry. The osteoporosis was considered to be secondary from growth hormone deficiency and hyperprolactinemia-induced hypogonadism. [ccmbm.com]
Early signs of Gorham-Stout syndrome include foci of intramedullary and subcortical lucency that can look like osteoporosis. As the disease progresses, there is tapering the long bones, which can progress to complete resorption. [roentgenrayreader.blogspot.com]
- Bone Disorder
Gorham's disease is a rare bone disorder characterized by bone loss (osteolysis), often associated abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone, or spread to soft tissue and adjacent bones. [rarediseases.info.nih.gov]
Because Gorham-Stout affects surrounding tissues in addition to bone, we often need to treat related complications as well as the disorder itself. [childrenshospital.org]
The book details the pathologic and radiologic characteristics of all bone and joint diseases, including arthritis, metastatic bone disease, osteoporosis, trauma, osteomyelitis, developmental bone disorders, and tumor-like lesions. [books.google.com]
- Ankylosis
English term or phrase: gross osteolysis Some radiographic features specific to psoriatic arthritis (e.g., pencil-and-cup deformity, joint space widening, gross osteolysis and ankylosis) were included in the scoring system, but others (e.g., phalangeal [proz.com]
There was subsequent fusion of the melted bones and complete ankylosis due to the severe osteolysis (Figure 8 ). Figure 7 (Patient II). [ped-rheum.biomedcentral.com]
Neurologic
- 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]
[…] the same time, this mentality, following on from a very long line of thinking which has attemptedto overcome nihilism and determine the conditions on an affirmation of life, can be seen as a means of celebrating the actual joyous, even transcendent, confusion [sosphysique.free.fr]
Workup
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 diagnosis essentially is one of exclusion and must be based on combined clinical, radiological, and histopathological findings.[4] X-rays, CT scans, MRIs, ultrasounds, and nuclear medicine (bone scans) are all important tools in the diagnostic workup [en.wikipedia.org]
Treatment
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]
In general, no single treatment modality has proven effective in arresting the disease. [ncbi.nlm.nih.gov]
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]
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]
Etiology
etiology, Etruscology, etymological, etymologically, etymologicon, etymologist, etymologize, etymology, eulogism, eulogist, eulogistic, eulogistically, eulogize, eulogium, eulogy, exobiology, festilogy, filicology, folk etymology, fungology, futurology [dentisty.org]
Etiology Etiology of GSD is still elusive. [orpha.net]
Owing to the low incidence of this syndrome, little is known about its etiology or treatment. [scinapse.io]
Despite the extensive investigation of the pathogenetic mechanisms of the disease, its etiology hasn't been clarified and several theories exist. [scholar.uoa.gr]
The etiology and most effective treatment for this nonhereditary condition remain controversial in the medical literature. [ncbi.nlm.nih.gov]
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]
[…] embryological, embryologist, embryology, emetology, emmenagogology, emmenological, emmenology, encephalology, endocrinologist, endocrinology, enigmatology, enterology, entomological, entomologist, entomologize, entomology, enzymology, epeology, epidemiologist, epidemiology [dentisty.org]
Epidemiology Haemangiomas are relatively common. Autopsy studies report in 10 to 12% of the population spinal haemangiomas. [atlasgeneticsoncology.org]
Pathophysiology
The etiology and pathophysiology are unknown, and the role of the osteoclast in GSD is unclear. We studied a patient with GSD who had massive resorption of his mandible, which extended to his maxilla, zygoma, right parietal region, and cranium. [ncbi.nlm.nih.gov]
[…] pantologic, pantology, papryrologist, papyrology, paradoxology, paralogia, paralogism, paralogistic, paralogize, parapsychology, parasitology, pareschatology, parhomologous, paromology, pathobiology, pathological, pathologically, pathologist, pathology, pathophysiology [dentisty.org]
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]
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]