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]

Case presentation: The boy was admitted for respiratory distress due to left sided chylothorax. Malignancy and infection were excluded. Extensive imaging studies were inconclusive at presentation. [nature.com]

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]

• Cervical Lymphadenopathy

  Computed tomography (CT) scan revealed an aggressive lesion in the right mandible with local soft tissues extension and cervical lymphadenopathy ( Figure 1 ). [omicsonline.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;56:184-90. [ PUBMED ] 2. Hardegger F, Simpson LA, Segmueller G. [ijpmonline.org]

  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]

  The presenting symptom of Gorham disease is localized dull aching pain, or more commonly acute pain arising after a pathological fracture. [7] Occasionally, there is some soft tissue swelling. [ijoonline.com]

• Limb Pain

  Limb pain, non-shoring physical strength and dysfunction are the main symptoms. X-ray reveals osteolysis. [spandidos-publications.com]

• Intravenous Administration

  The lesions showed contrasting enhancements on T1-weighted sequences after intravenous administration of gadopentate dimeglumine. Fig. 1 Massive osteolysis with skip lesions in 38-year-old man. [kjronline.org]

• Abdominal Mass

  Case description: This case is about 43 year old woman who begins with pain in sternum, dyspnea, abdominal mass and, serous-hematic pleural effusion. Imaging tests were performed showing lesions on 6 th and 10 th left ribs archs. [scielo.org.co]

• Malocclusion

  In the dentoalveolar region, mobile teeth, malocclusion, mandibular deviation and bony deformity may be observed. Patients with thoracic involvement may present respiratory distress (caused by chylothorax). [orpha.net]

  Sign and symptoms include mobile teeth, pain, malocclusion, deviation of mandible and clinically obvious facial deformity. Obstructive sleep apnea syndrome has been noted secondary to posterior mandibular displacement after extensive osteolysis. [jomfp.in]

• 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]

• 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]

• Bone Disorder

  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]

  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]

  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]

  Disorders Taha Faruqi,Naveen Dhawan,Jaya Bahl,Vineet Gupta,Shivani Vohra,Khin Tu,Samir M. [ijpmonline.org]

• 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]

• Back Pain

  The clinical presentation consists of pain or pathological fracture. The patient we present is a 5-year-old girl, who presented initially with pain in her back, and subsequently multifocal osteolysis was found. [spandidos-publications.com]

• Facial Swelling

  Upon examination, there were bilateral palpable submandibular lymph nodes with no obvious facial swelling. [omicsonline.org]

• 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

  Introduction Gorham’s disease is a rare disorder of unknown etiology, which is characterized by massive osteolysis of a portion of the bone involved. [jstage.jst.go.jp]

• Neck Stiffness

  […] pain RT AD - - Occiput & C1–2 Neck stiffness RT AD Khosrovi et al. (1997) 8) 62 M Occiput & C1–2 Headache & pneumocephalus RT AD; remineralization Mark et al. (1997) 11) 6 M Skull base & C1-3 Neck pain & lymphedema RT & HV AD; remineralization Girn et [jstage.jst.go.jp]

• Nystagmus

  The nystagmography revealed a vestibular failure on the right side with spontaneous nystagmus to the left side. The radiological picture and reanalysing the biopsy (angiomatosis of the bone) supported the suspicion of a GSS. [ashg.org]

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]

• Soft Tissue Calcification

  Subsequently, the characteristic picture of progressive dissolution and disappearance of a portion of the bone may occur in the absence of a sclerosing or osteoblastic reaction, soft-tissue calcification and coarse trabeculation. [ijoonline.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]

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]

This diagnosis and treatment should be considered in children with chylothorax of unknown origin. [nature.com]

As there is no approved treatment for GSS, various treatment methods have been utilized on a case-by-case basis without proven principles. If the lesion is localized, then surgery is the principal treatment modality. [e-sciencecentral.org]

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]

Despite the extensive investigation of the pathogenetic mechanisms of the disease, its etiology hasn't been clarified and several theories exist. [scholar.uoa.gr]

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]

There is no evidence of new bone formation Click here to view Our case is of idiopathic etiology and nonfamilial type of Gorham's disease, without neurological involvement. [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]

[…] pantologic, pantology, papryrologist, papyrology, paradoxology, paralogia, paralogism, paralogistic, paralogize, parapsychology, parasitology, pareschatology, parhomologous, paromology, pathobiology, pathological, pathologically, pathologist, pathology, pathophysiology [dentisty.org]

The disease pathophysiology commences with intramedullary and subcortical radiolucent foci resembling patchy osteoporosis. It makes slow, irregular, local progress with a concentric shrinkage of the shafts of the bones. [ped-rheum.biomedcentral.com]

This suggests that early potent antiresorptive therapy such as with calcitonin or bisphosphonates may prevent local progressive osteolysis. [ncbi.nlm.nih.gov]

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]

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]