Diagnostic Dilemma of Vanishing Bone Disease - A Case Report and Review of Literature.

Rationale: Vanishing bone disease (VBD) is a rare bone disorder in which progressive osteolysis may lead to complete disappearance of involved bones. The diagnosis of this disease requires a high degree of clinical suspicion. We present a case of progressive osteolysis of mandible in a patient. Patient Concerns: The patient had been without definitive diagnosis and treatment for over a year. Diagnosis: Diagnosis was made by exclusion of genetic, traumatic, inflammatory, infective, endocrine and neoplastic aetiologies and by carefully correlating clinical, imaging and histopathological findings of the patient. Treatment: Segmental resection of the advancing edge of the lesion was carried out. Outcome: The patient is disease free, with no evidence of further osteolysis, after six months of follow-up. Take-Away Lessons: This article describes the exclusion-based approach adopted to diagnose a case of VBD, aiming to standardise a workup for the diagnosis.

Gorham-Stout Disease: A Case Report and Review of the Literature.

Gorham-Stout disease causes gradual bone loss (osteolysis) due to an abnormal overgrowth of lymphatic vessels. This rare disease is usually seen in younger people. The etiopathology of Gorham-Stout disease remains unclear. The disease is pathologically characterized by the proliferation of the vascular or lymphatic vessels and, finally, bone matrix destruction. These pathological changes lead to the presence of massive osteolysis on plain radiographs. Thus, plain radiograph findings may lead physicians to consider tumoral conditions, especially metastasis. There are several other conditions on the differential diagnosis list of massive osteolysis, such as metabolic, infectious, malignant, and immunological conditions. After excluding all possible disorders, the disease can be considered in the differential diagnosis. The treatment of the disease is symptom-based, but there is no consensus. Pharmacological methods should be considered first-line treatment. If there is no regression in the course of the disease despite pharmacological treatment, radiotherapy and resection arthroplasty are the treatment of choice in the later stages. In this case report, we present a case of Gorham-Stout disease, which was treated by pharmacological methods. During the one and half year follow-up, the local control of the disease was achieved without any surgical intervention.

[Unilateral subjective tinnitus «vanishing bone¼ disease (Goram-Stout syndrome).] / Odnostoronnii sub"ektivnyi shum pri bolezni «ischezayushchei kosti¼ (sindrom Gorkhema ­Stouta).

The article presents the case history of an 11-year-old girl with Goram-Stout disease, who debuted with unilateral subjective tinnitus. A review of the literature, cases with damage of the temporal bones and modern methods of treatment of this disease is made.

The loneliness of a long-distance runner. A ten-year survey of a patient diagnosed with Gorham-Stout syndrome at the occipitocervical junction.

This case study presents a 47-year-old male who was diagnosed with Gorham-Stout syndrome (GSS) 10 years ago in the occipitocervical junction. The pathology caused the resorption of the suboccipital bone, clivus, foramen magnum, and C1-C3 laminae. After his first fusion attempt in 2010 using occipital plate-cervical lateral mass screws, he needed many revision surgeries either for the progression of the pathology or for instrumentation failure and wound healing problems. Eventually, a new occipital plate and cervical pedicle screws were applied to obtain the exact solution. The involvement of the craniovertebral junction in GSS may be challenging for spinal surgeons due to the inadequate bone reserve for stabilization. As lateral mass screws cannot provide a strong pull-out force, cervical pedicular screws may be used as the first choice for unstable cervical GSS cases.

Vanishing bone disease: An enigma.

Vanishing bone disease is a rare clinical entity with unknown etiology. This disease affects individual irrespective of age or sex. Various names have been used in the literature to describe this condition such as Gorham's disease, phantom bone disease, massive osteolysis, disappearing bone disease and acute spontaneous absorption of bone. The pathogenesis is unknown and the treatment still remains controversial. Considering the rarity of the disease, we report here an interesting and unique case of massive osteolysis of the lower jaw that affected the mandibular basal and alveolar bone. The diagnoses lead on the association of clinical, radiological and histological features.

Gorham Disease Limited to the Left Upper Extremity Without Hand Involvement.

In this case report, we present a young female patient with a history of Gorham disease, who sustained pathologic fractures of the left radius and ulna after a low-impact fall. Massive osteolysis of the left forearm and wrist was noted on plain radiographs. The patient had had 8 previous left upper-extremity fractures without evidence of disease in any other area of the body.

Multifocal Gorham-Stout disease associated with Chiari I malformation and recurrent aseptic meningitis: Case report and review of literature.

Gorham-Stout disease is a rare condition of uncertain aetiology characterised by lymphatic proliferation within osseous structures and subsequent massive osteolysis. This report describes the index case of a patient with multifocal Gorham-Stout disease involving the skull base with Chiari I malformation and recurrent aseptic meningitis without fistula. A five-year-old male presented following decompression of a Chiari I malformation with headaches, vomiting, and stiff neck and cerebrospinal fluid pleocytosis without growth of a pathogenic organism. Ongoing symptoms prompted a further three presentations over several months revealing persistent aseptic cerebrospinal fluid monocytic pleocytosis. Further investigation revealed multifocal osseous cystic disease and subsequent bone biopsy suggested Gorham-Stout disease. Suboccipital decompression was not repeated despite craniocervical junction re-stenosis. A literature review demonstrated the extreme rarity of Gorham-Stout disease associated with Chiari I malformation and meningitis. Potential mechanisms of these entities occurring in concert are discussed. Consideration of Gorham-Stout disease as a secondary cause for Chiari I malformation is important amid local bone changes or cerebrospinal fluid leakage prior to pursuing suboccipital decompression considering the poor outcomes reported.

Orthotic management with a customized humeral brace for Gorham-Stout disease of the humerus: A case report

@#Gorham-Stout disease is characterized by massive osteolysis or "vanishing bone" on radiograph. Due to its rarity, no standard Physical Medicine and Rehabilitation (PM&R) management has been published. With this comes the dilemma of managing another case of vanishing right humerus in a 13 year-old male, right handed student, with normal growth and development. To date, this could be the third documented case in the Philippines, but the first with humeral involvement, and the first to manage using a customized humeral brace. The absence of the right humerus affects the bimanual overhead and tabletop activities of the patient, for which a custom-made humeral orthosis was provided to manage the limited activities. There were improvements in activities such as writing, card turning, stacking, and lifting objects of variable weights, as well as with hand dexterity as evidenced by the standardized hand function tests done prior and post brace fitting. Being a rare bone disease with no standard management and unpredictable course, cases are managed symptomatically. For this case of an absent humerus significantly affecting upper extremity function, orthotic management is one aspect that could be recommended to achieve positive functional outcomes.

Gorham-Stout disease with involvement of the jaws: a systematic review.

The purpose of this study was to systematically review all published cases of Gorham-Stout disease (GSD) involving the jaws and to identify the clinico-radiological and histopathological features associated with persistence of the lesions, as well as the best treatment options available. An electronic search was undertaken in November 2018. Eligibility criteria included publications with sufficient information to confirm the diagnosis. Eighty-six publications reporting 89 cases were included. Features observed included symptomatic disease (51.1%), swelling (34.1%), pathological fracture (31.8%), history of previous trauma (32.1%), high alkaline phosphatase levels (24.3%), and predominance of vascular tissue (72.4%). Nearly a quarter of the patients were only followed up, with no treatment implemented. Most treatments consisted of some type of surgery with/without additional therapies (42.0%), drugs (20.5%), and radiotherapy (14.8%). Half of the cases were found to persist after some treatment modality, and five patients died. Among the variables investigated, only a lesion crossing the midline showed an association with persistence of the disease. There remains much to understand about GSD, a rare condition with no clear consensus on the aetiopathology, an unpredictable clinical course, and no standard treatment. The high rate of persistence after treatment was found to be associated only with the lesion crossing the midline.

Intracranial hypotension and hypertension: reversible Chiari malformation due to dynamic cerebrospinal fluid abnormalities in Gorham-Stout disease. Case report.

Gorham-Stout disease (GSD) is an intractable disease characterized by massive osteolysis caused by abnormal lymphangiogenesis in bone. In rare cases of GSD, CSF abnormalities develop. The authors present the case of a 19-year-old woman with GSD presenting with orthostatic headache due to intracranial hypotension (5 cm H2O). The clinical course of this case was very unusual. Orthostatic headache was associated with a CSF leak from the thigh after pathological fractures of the femur and pelvis. The chronic CSF leak led to acquired Chiari malformation (CM) with syringomyelia. After an epidural blood patch, her neurological status improved; however, after the complete arrest of the CSF leak from the thigh, she presented with severe nonpostural headache and progressive visual acuity loss with optic papilledema. A ventriculoperitoneal shunt was placed to treat intracranial hypertension (50 cm H2O). Headache improved and optic papilledema decreased after shunt surgery. This case shows that dynamic CSF abnormalities may lead to reversible CM in patients with GSD. Sealing a CSF leak rather than performing suboccipital decompression is recommended for acquired CM resulting from a CSF leak.

Gorham disease involving the maxillofacial bones: A perplexing entity.

Gorham disease is a rare disorder with progressive osteolysis which leads to the vanishing of bones. Its etiology and ideal management strategy are still an enigma. A case of Gorham disease involving the maxillofacial region in a 25-year-old male with an emphasis on etiology and diagnosis is discussed.

Two cases of Gorham-Stout disease with good response to zoledronic acid treatment.

Gorham-Stout disease - also called vanishing bone syndrome - is a rare bone disease characterized by a progressive intra-osseous proliferation of non-neoplastic vascular tissue resulting in massive osteolysis. Here, we report two clinical cases of Gorham-Stout disease. Case 1: a 56-year-old woman with 20 years of history of pain and swell in elbows, ankles and wrist. Then she was diagnosed as systemic lupus erythematosus (SLE) with glomerulonephritis type III. After other pathologies were ruled out Gorham-Stout disease was diagnosed. Intravenous zoledronic acid (5 mg) was indicated and after third infusion a progressive improvement of pain, mobility and daily activities were observed. Case 2: a 70-years-old man with a history of pain and limited motion in the left shoulder without X-ray abnormality. Six months later pathological fracture in the left humerus occurred and after ruled out other pathologies Gorham-Stout disease was diagnosed. Intravenous zoledronic acid (5 mg) was indicated and a good response was observed after the first infusion. Nowadays just over 200 cases were reported. Gorham-Stout disease was reported in different bones, at different age presentation and severe physical deformities, disabilities, and life-threatening complications can occur. Two cases of Gorham-Stout disease with good response to zoledronic acid was reported in this article.

Gorham's Disease of the Maxilla and Mandible With Distinctive Cone Beam Computerized Tomographic Features.

Gorham's disease is a rare and atypical disorder epitomized by progressive osteolysis of bone with eventual total disappearance of bone. The etiology is poorly understood with variable clinical presentation. Most times it is initially misdiagnosed as temporomandibular joint dysfunction, periodontal disease or odontogenic tumors clinically and radiographically in routine dental practice. Radiographic examination, such as Cone Beam Computerized Tomography (CBCT) play a vital role in diagnosing such disorder resulting in disappearance of the involved bone entirely, which is a definitive distinguishing feature of this condition. Regarding the rarity of the condition, the current study presents a case of Gorham's disease with distinctive clinical, radiological, and histological, features involving maxilla and mandible.

Disappearing bone disease of the humerus and the cervico-thoracic spine: a case report with 42-year follow-up.

BACKGROUND CONTEXT: Disappearing bone disease (DBD) is a rare idiopathic musculoskeletal disorder that is distinguished by bone resorption without bone formation, vascular or lymphatic vessel proliferation, and soft-tissue swelling. Long-term follow-up of a patient with DBD has rarely been reported in the literature. PURPOSE: The following is a case report of a female patient with DBD of the humerus and the spine who was followed for 42 years, documenting the progression of the disease and outcomes. STUDY DESIGN: Case report. METHODS: A review of the medical records since the time of initial hospital admission throughout follow-up was performed. RESULTS: A female patient was first seen at our institution at the age of 14. She later developed DBD of the humerus and the spine. The initial difficulty encountered was reaching the diagnosis, and later on with management of the patient as the disease progressed. The case was complicated by syrinx and arachnoid cyst formation, which caused neurologic changes leading to tetraplegia and shunt infection. The patient's inability to form a solid fusion mass led to repeated implant loosening and progressive deformity despite efforts made to stabilize both the humerus and the spine. The treatment modalities used were oral bisphosphonates, rhBMP, repeated surgeries, and instrumentation with adjunct bone graft and substitutes. At the age of 56 years, the patient died because of septicemia secondary to urinary tract infection from tetraplegia. CONCLUSIONS: To our knowledge, this is the first report documenting a 42-year follow-up of a patient with DBD of the humerus and the spine. Our report showed that DBD greatly affects the quality of life of the patient. Close follow-up, a multidisciplinary approach, and supportive care are stressed when managing patients with DBD.

Vanishing Mandible: A Rare Case Report with Accent to Recent Concepts on Aetio-pathogenesis.

Massive osteolysis is a rare idiopathic bone disease resulting in progressive destruction of bone. Considering the rarity of encountering this fascinating bone disease, it is often misinterpreted as some other osteolytic disease. Hence, we present a well-documented case of massive osteolysis in a 29-year-old female patient with complete clinical, radiographic, macroscopic and microscopic features along with surgical photographs, which has been effectively managed at our hospital.

"Vanishing Bone Disease" in Maxillofacial Region: A Review and Our Experience.

Vanishing bone disease (VBD) is a rare disease of unknown etiology which is characterised by progressive replacement of bony framework by proliferation of endothelial lined lymphatic vessels. It has been given numerous names like massive osteolysis, Gorham's disease, phantom bone disease, and progressive osteolysis. It has no age, sex or race predilection. It may involve single or multiple bones and spread of the disease does not respect the relevant joint as boundary. The first report of the disease was published around two decades back but the mysterious nature of its etiology and ideal management strategy has still not been completely unfolded. The disease may functionally or aesthetically effect the patient and also has the potential to be life threatening. The first case of VBD in maxillofacial region was reported by Romer in 1924, Handbuch der speziellen pathologischen Anatomie and histology, Springer, Berlin. Since then, there have been few case reports of the same in maxillofacial region. We present a review of cases of VBD in maxillofacial region reported in literature along with our experience of a case.

Surgical Treatment of Gorham's Disease with Massive Osteolysis of the Skull and Cervical Spine: A Case Report and Review of Literature.

Gorham's disease is a rare disorder of unknown etiology and variable clinical presentation and is characterized by the proliferation of lymphatic vessels associated with massive regional osteolysis. Although 10 cases involving the skull and cervical spine have been reported in the literature, little is available concerning the surgical treatment of either atlantoaxial dislocation or basilar impression. Most cases have experienced universally unsuccessful treatment with bone grafts, which have led to dissolution. This case report describes the clinical course, and radiotherapeutic, medical, and surgical treatment for Gorham's disease with basilar impression and massive osteolysis of the skull and upper cervical spine. The case of a 27-year-old man with progressive massive osteolysis of the skull and cervical spine is reported. Multiple surgical treatments to decompress the spinal cord and stabilize the skull and upper cervical spine with autologous fibular grafts were performed in order to prevent the progression of atlantoaxial dislocation and basilar impression. Pathologically, radiotherapy failed to show any effect. The efficacy of antiresorptive therapy with bisphosphonates could not be confirmed either clinically or radiologically. Although solid bone fusion was not obtained, the patient has achieved a satisfactory functional outcome and remains completely active after repeated surgeries. Surgical treatment is extremely difficult in cases of Gorham's disease involving the skull and upper cervical spine. Fibular bone grafts seem to show resistance to erosion to osteolytic tissue.

Gorham's disease: A diagnostic challenge.

Gorham's disease is a rare disorder of uncertain etiology characterized by spontaneous and progressive osteolysis of one or more skeletal bones. Till date, less than 200 cases have been reported in the international literature with about 51 cases involving the maxillofacial site. The radiographic findings associated with Gorham's disease are particularly dramatic, as in some cases a complete resorption of the involved bone can occur, leading to the definition of phantom bone or disappearing bone disease. The purpose of this review is to make our community aware of this rare entity and to discuss the etiopathology, clinical presentation, radiographic findings, histopathology, differential diagnoses and treatment modalities for patients with vanishing bone disease.

Doença de Gorham da escápula e clavícula: relato de caso e evolução de dois anos de uma afecção rara / Gorham's disease of scapula and clavicle: case report and two-year follow-up of a rare disorder

A doença de Gorham é uma rara desordem osteolítica, de etiologia controversa, que pode afetar qualquer osso. O substrato histopatológico é a substituição óssea por uma formação expansiva de natureza vascular agressiva, não neoplásica. Descrevemos os achados radiográficos, tomográficos e de ressonância magnética de um caso desta afecção acometendo a escápula esquerda e, dois anos depois, a clavícula ipsilateral.

Gorham's disease is a rare osteolytic disorder of still controversial etiology that may affect any bone. The histopathological substrate for such a condition is the replacement of normal bone by aggressive non-neoplastic expansile vascular tissue. The authors describe radiographic, computed tomography and magnetic resonance imaging findings in a case of this entity initially affecting the left scapula and, two years later, the ipsilateral clavicle.

Massive osteolysis of hemimandible: a case report.

Massive osteolysis or Gorham's stout disease or phantom bone is a rare disorder which normally appears in adulthood with no specific predilection for any sex. Work to find out exact etiology of disorder has been done. But actual cause has not yet been found. Any of the bone could be involved in this disease. A clinical, radiographic and histological evaluation of massive osteolysis of mandible is presented and discussed.