Gorham's Disease Research Articles

A Rare Case of Chylothorax Manifestation of Gorham’s Disease, Lymphangioma and Tuberculosis

Background: Chylothorax is a rare condition caused by accumulation of chyle in the pleural cavity (2-3%). More rare causes are Gorham's disease and tuberculosis
 Case: A 31-year-old male complained of swelling left arm and shortness of breath with recurrent pleural effusion. Pleural fluid analysis showed chylous. Bone survey showed osteolytic lesions of multiple bones as Gorham's disease. Thoracic CT showed left lung mass, atelectasis, massive fluidothorax, ipsilateral supraclavicular lymphadenopathy, destructive left scapula. Needleaspiration of left humerus revealed lymphangioma. Expert Mtb-Rif examination revealed Mtb detected. We assessed Gorham'sdisease, lymphangioma and lung tuberculosis with complication recurrent chylothorax and was treated anti-tuberculosis, anti-osteolytic and thorax catheter insertion.
 Conclusion: Difficult and rare case of chylothorax in one patient with Gorham’s disease and tuberculosis, is a poor prognosis.
 Keywords: Chylothorax, Gorham's Disease, Tuberculosis

Gorham Disease of Distal Humerus Successfully Treated by Slight Shortening and Pin and Plate Fixation

Background: Gorham's disease (GD) is one of the scarce and idiopathic skeletal diseases which causes osteolysis following the proliferation of blood vessels. Progressive osteolysis GD of distal humerus with articular involvement and pathologic fracture has not been reported and our case is the first report of this disease involving distal humerus and its joints’ surfaces.
 Case Report: A 9-year-old boy, case of nonunion of medial condyle of humerus and pathologic fracture of distal humerus after minor trauma, was referred to our clinic and treatment started by casting but due to displacement and nonunion, we decide to operate him. Intraoperative finding was in favour of aneurysmal bone cyst (ABC) near fracture site; therefore, wide resection and fixation by medial tension band wiring (TBW), lateral plating, and fibular allograft application was done (post-operation pathologic result did not show microscopical features of this tumor) and 6 weeks later, he developed stress riser fracture above lateral plate; thus, plate removal was done and severe bone resorption was revealed. Therefore, another specimen was sent for pathology that showed hamartomatous and hemangiomatous lesion of bone. All findings were in favour of GD. He was operated another time and fixed by Persian fixation with small pins and plate, and early plate removal was done for prevention of stress riser fracture.
 Conclusion: In cases of GD of distal humerus and pathologic fracture, Persian fixation is a good option for fixation and we suggest early device removal for prevention of stress riser fracture.

Imaging Spectrum of Calvarial Abnormalities.

Calvarial abnormalities are usually discovered incidentally on radiologic studies or less commonly manifest with symptoms. This narrative review describes the imaging spectrum of the abnormal calvaria. The extent, multiplicity, and other imaging features of calvarial abnormalities can be combined with the clinical information to establish a final diagnosis or at least narrow the differential considerations. Prior trauma (congenital depression, leptomeningeal cysts, posttraumatic osteolysis), surgical intervention (flap osteonecrosis and burr holes), infection, and inflammatory processes (sarcoidosis) can result in focal bone loss, which may also be seen with idiopathic disorders without (bilateral parietal thinning and Gorham disease) or with (Parry-Romberg syndrome) atrophy of the overlying soft tissues. Anatomic variants (arachnoid granulations, venous lakes, parietal foramina) and certain congenital lesions (epidermoid and dermoid cysts, atretic encephalocele, sinus pericranii, and aplasia cutis congenita) manifest as solitary lytic lesions. Other congenital entities (lacunar skull and dysplasia) display a diffuse pattern of skull involvement. Several benign and malignant primary bone tumors involve the calvaria and manifest as lytic, sclerotic, mixed lytic and sclerotic, or thinning lesions, whereas multifocal disease is mainly due to hematologic or secondary malignancies. Metabolic disorders such as rickets, hyperparathyroidism, renal osteodystrophy, acromegaly, and Paget disease involve the calvaria in a more diffuse pattern. Online supplemental material is available for this article. ©RSNA, 2021.

Rare health conditions 47: the ‘strengths model’ of care, Gorham's disease and amniotic band syndrome

The purpose of this series is to highlight a range of rare health conditions. Rare health conditions are those that affect no more and usually fewer than 1 person in every 2000 and many HCAs and nurses will encounter some of these conditions, given the high number of them. This 47th article will explore two of these conditions, Gorham's disease and amniotic band syndrome, and offer a focus on the ‘strengths-based model’ of healthcare assessment and planning.

Radiographic extent of maxillofacial Gorham's disease and its impact on recurrence: A systematic review

This systematic review assessed the radiographic extent of maxillofacial Gorham's disease and its impact on recurrence. PubMed and Cochrane databases were searched. The key words were (Gorham Disease OR Vanishing Bone Disease OR Gorham Stout Syndrome) AND (Jaw OR Maxilla OR Mandible OR Maxillofacial). Forty-one cases from 39 articles were included. Based on radiographic extent, the lesions were classified as large or small. Most cases occurred in the mandible (24), followed by a combination of maxilla and/or mandible and other bones (12), both mandible and maxilla (3), and maxilla only (2). Only mandibular cases were analyzed for radiographic extent. Of the 24 mandibular lesions, 16 were large and 8 were small. Nine of the large lesions occurred in the young age group with 2 recurrences, followed by 5 in the middle-aged group with 1 recurrence. Small lesions were nearly equally distributed over the age groups, with 2 recurrences in the middle-aged group and 1 recurrence in the adult age group. Age, sex, and lesion size had no significant effect on recurrence. Radiographic extent of the lesion does not impact recurrence, suggesting a possible existence of aggressive and nonaggressive variants of maxillofacial Gorham's disease.

Vanishing Bone Disease: The Unseen Seen

Vanishing bone disease (Gorham disease) is an uncommon bone pathology that is characterized by a continuous replacement of bone with the abundance of endothelial cells. It is usually nonfamilial, but maybe familial and occurs periodically in children and young adults. The lesion is usually nonexpansile and monocentric, rarely polyostotic, but locally aggressive. Though asymptomatic cases have been reported, clinical symptoms include pain, functional disability and swelling of the involved area. Pathologic fracture of the involved bone has also been noted in some patients. Surgical treatment, as well as radiotherapy, forms the main basis of treatment modality.

Gorham-Stout Syndrome with Focal Segmental Glomerulosclerosis: A Case Report

Gorham-Stout syndrome is a rare bone disorder characterized by progressive massive osteolysis and proliferation of vascular and lymphatic vessels. A 15-year-old boy was initially diagnosed with Gorham-Stout at the age of 8 years based on clinical and radiological findings. Following diagnosis, he was treated with pamidronate, interferon alfa, propranolol, oral corticosteroids, and sirolimus. He developed proteinuria at the age of 15 and progressed into the nephrotic range 2 years later. A renal biopsy revealed focal segmental glomerulosclerosis, not otherwise specified variant. The sequential increase in proteinuria associated with medications suggested that the focal segmental glomerulosclerosis may be caused by pamidronate and sirolimus, but cannot completely rule out the possibility of kidney involvement of GSS itself. Key words: Gorham disease; Osteolysis; Proteinuria; Focal Segmental Glomerulosclerosis; Adolescents

Human neutrophils activated by TLR8 agonists, with or without IFNγ, synthesize and release EBI3, but not IL-12, IL-27, IL-35, or IL-39.

The IL-12 family of cytokines plays crucial functions in innate and adaptive immunity. These cytokines include heterodimers sharing distinct α (IL-12A, IL-23A, and IL-27A) with two β (IL-12B and Epstein-Barr virus induced gene 3 [EBI3]) chains, respectively, IL-12 (IL-12B plus IL-12A) and IL-23 (IL-12B plus IL-23A) sharing IL-12B, IL-27 (EBI3 plus IL-27A), IL-35 (EBI3 plus IL-12A), and IL-39 (EBI3 plus IL-23A) sharing EBI3. In this context, we have recently reported that highly pure neutrophils incubated with TLR8 agonists produce functional IL-23. Previously, we showed that neutrophils incubated with LPS plus IFNγ for 20h produce IL-12. Herein, we investigated whether highly pure, TLR8-activated, neutrophils produce EBI3, and in turn IL-27, IL-35, and IL-39, the IL-12 members containing it. We report that neutrophils incubated with TLR8 ligands, TNFα and, to a lesser extent, LPS, produce and release remarkable amounts of EBI3, but not IL-27A, consequently excluding the possibility for an IL-27 production. We also report a series of unsuccessful experiments performed to investigate whether neutrophil-derived EBI3 associates with IL-23A to form IL-39. Furthermore, we show that neutrophils incubated with IFNγin combination with either TLR8 or TLR4 ligands express/produce neither IL-12, nor IL-35, due to the inability of IFNγ, contrary to previous findings, to activate IL12A transcription. Even IL-27 was undetectable in supernatants harvested from IFNγplus R848-treated neutrophils, although they were found to accumulate IL27A transcripts. Finally, by immunohistochemistry experiments, EBI3-positive neutrophils were found in discrete pathologies only, including diverticulitis, cholecystitis, Gorham disease, and Bartonella Henselae infection, implying a specific role of neutrophil-derived EBI3 in vivo.

CHYLOPERICARDIUM: A RARE CAUSE

Chylopericardium without chylothorax is a rare disorder. This can be idiopathic; however, may be secondary to injury to the thoracic duct. Radiotherapy, tuberculosis, acute pancreatitis, mediastinal neoplasms and Gorham's disease are some secondary causes. An aggressive lymphatic anomaly, known as-

Survey of Adult Patients with Vascular Malformations Reveals Acute Need of Adult Hematologists to Enter the Field

Vascular malformations represent a spectrum of disorders with dysregulated vascular and/or skeletal, adipose, and soft tissue overgrowth. The morbidity of the diseases is related to vascular abnormalities, which can result in venous insufficiency, consumptive coagulopathy and thromboembolic disease, high cardiac output failure, etc., causing major chronic morbidity and affecting the quality of life and ability to work. Over the past decade, genomic and somatic mutations have been identified as causal for many vascular anomalies. Medical therapy is now possible targeting abnormalities in pathways resulting from these mutations. As a result of this, as well as improved surgical and interventional techniques, the lifespan of patients with vascular anomalies is increasing. Most of the conditions present at birth or during childhood. Pediatric specialists, especially hematologists and oncologists, have coordinated the care for these patients, who have ongoing medical needs, requiring multidisciplinary care and a medical home. Despite the strides in basic science research and clinical studies, "vascular anomalies" remains an "orphan field", not covered in most medical schools or residency programs. As a result, as patients "age out" of the pediatric age group, they have great difficulties finding adequately educated physicians to take over their care. Children's Hospitals have an institution-specific age cut-off (18-35 years of age), after which patients can no longer be followed at the institutions where they may have been managed since birth. The management of these disorders is becoming more complex and medically based and adult patients have difficulty finding specialists who feel comfortable enough with their diseases to manage them. In collaboration with two patient advocacy groups, the Klippel-Trenaunay Support Group and the Lymphangiomatosis and Gorham's Disease Alliance (LGDA), we designed a survey of patients (over 18 years of age) with complex vascular malformations to collect data regarding their experience with specialists that manage their care. This included patients previously treated at pediatric centers, as well as older adults who were recently diagnosed. Our main goals were to 1) Ascertain the challenges in obtaining care for vascular anomalies for patients 18 years of age and older and 2) Improve the availability and quality of care for older adolescents, young adults, and adult patients with vascular anomalies. Over a 6 month period when the survey was posted on the websites of several vascular malformation patient advocacy groups. 249 patients responded, with the majority of patients stating one of their main frustrations is not having adult specialists, especially hematologists, available to manage them. The Table below summarizes key findings from the survey. Pediatric hematologist/oncologists were the most common pediatric specialist patients had seen. Most patients discontinued care by pediatric subspecialists by 19 years of age. Twenty-eight percent of adults were still followed by a pediatric subspecialist, with patients stating there was no adult healthcare provider available who was willing to see adults with their condition. Forty-nine percent of the patients were diagnosed after 20 years old. They cannot find centers or physicians comprehensively managing vascular anomalies and offering not only surgical or endovascular procedures, but also medical therapy that has become standard of care in pediatric vascular anomalies field. Multispecialty Vascular Anomalies Clinics have evolved as the ideal setting for patients with these disorders, since a variety of specialists (interventional and diagnostic radiologists, hematologists, dermatologists, surgeons, geneticists, and others) are required for comprehensive care. Adult-trained hematologists are essential for managing this cohort of patients who have hematologic complications as well as those eligible for new therapies. Our data supports the need for a generation of specialists who can manage adult patients with complex vascular malformations. Disclosures No relevant conflicts of interest to declare.

A rare case of spine disappearing bone disease: Lesson learned and review of the literature

Abstract Disappearing bone disease, also known as Gorham's disease, is a rare idiopathic musculoskeletal disorder characterized by clinical and radiological disappearance of bone caused by a proliferation of non-neoplastic vascular tissue. The disease was first reported by Jackson in 1838 in a boneless arm. Primary involvement of the spine is rare and has been described in about 20 cases only. Gorham's disease is progressive in most patients and high morbidity and mortality is seen in patients with spinal involvement. We present on a case of a thirty-two-year-old man admitted to our department for acute onset of paraplegia and sensitive anesthesia below T1 level; a CT scan showed a C6–C7 fracture of the body, involving the posterior elements and characterized by high instability with 20° of kyphosis. The patient underwent a C2-T7 posterior fixation. At the 3-month follow-up, the patient recovered partial motility on the lower limbs and the implant appeared stable. In general, no single treatment modality has proven effective in arresting the disease. Only eight cases have been treated by surgical fixation. In fact, the literature review we performed showed paucity concerning the correct treatment, in particular, the timing of surgery. In light of this and given the very poor prognosis once neurological deficits appear, we support the surgical treatment soon after the spinal deformity and/or impending fracture is diagnosed.

A vanished humeral head mimicking Gorham's disease in a patient with Diabetes Mellitus

A vanished humeral head mimicking Gorham's disease in a patient with Diabetes Mellitus

Management of Gorham disease in the cervicothoracic spine with mobile gravity traction and Sirolimus

Searchable abstracts of presentations at key conferences on calcified tissues ISSN 2052-1219 (online)

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.

Gestion des complications postopératoires dans le cas de la maladie de Gorham de localisation cervicale : cas clinique

Gorham's disease is a rare osteolytic bone disease, caused by pathological vascular tissue, which may spread to adjacent organs. It is a disease of unknown etiology, primarily involving the axial skeleton and whose treatment is not codified. Cervical spine involvement is unusual. Stabilization of the cervical spine is a real surgical challenge. We report the case of a young adult treated in our neurosurgery department for a cervical spine localization of Gorham's disease.

A Chylothorax of Gorham Disease Treated by Lymphatic Embolization

A Chylothorax of Gorham Disease Treated by Lymphatic Embolization

Gorham's disease in humerus treated with autogenous vascularized fibular graft.

Gorham's disease is a rare disorder of the bone characterized by progressive massive osteolysis. The pathophysiology is unknown, and diagnosis is often difficult. Most cases are often recognized retrospectively. There is no standardized treatment and management for Gorham's disease. We report a case of an 18-year-old male presenting with a pathologic fracture in the humerus shaft diagnosed with Gorham's disease. Patient was treated with autogenous vascularized fibular graft with wide excision and a 10 years followup after first surgery.

Anaesthesia for a Patient with Gorham’s Disease A Very Rare Disease to Report

Gorham disease, which is also known as massive osteolysis, vanishing bone disease or lymphangiomatosis, is an extremely rare condition, characterized by proliferation of vascular channels resulting in destruction and resorption of osseous matrix leading to bone loss, which in turn leads to joint instability and problems during airway management and positioning for surgery. Respiratory involvement may further complicate anaesthesia management. We are reporting the anaesthesia care of a 11-year-old boy of known GS with left sided chylothorax who came for amputation of left arm due to closed injury arm resulting from RTA.He was on cyclical Pamidronate therapy and had completed radiotherapy. JBSA 2016; 29(2): 75-77

Mysterious unilateral midfacial destruction - a diagnostic dilemma

We describe a case of progressive, significant, bony destruction of right midface over approximately 27 months from an unknown aetiology. A 58-year-old male patient originally presented with a white lesion in the upper right buccal sulcus, which a biopsy confirmed to be a benign hyperplastic inflammatory lesion. However, 16 months later, the patient returned with signs and symptoms suspicious of a malignant aetiology. A series of computed tomography scans over 27-month period revealed progression of extensive permeative right midfacial bony destruction now with intracranial involvement. Contrary to the clinical and radiological findings, the histology results could not confirm malignancy and have been inconclusive on various occasions. We describe the clinical journey to date of this patient and discuss differential diagnoses: actinomycosis osteomyelitis; avascular necrosis of infective cause, such as mucormycosis; verrucous carcinoma; and Gorham's disease (massive osteolysis). We highlight the importance of a collaborative, multicentre, multidisciplinary approach to explore the results of investigations that conflict with the clinical picture of a complex case like this.

Gorham's Disease in a Patient with Traumatic Spinal Cord Injury: Case Report and Review of the Literature.

Gorham's disease is a rare entity that has been sparsely covered in the medical literature, and its pathophysiology remains poorly understood. We present the case of a 22-year-old man who sustained a traumatic T6 American Spinal Injury Association Impairment Scale B paraplegic injury complicated by a complaint of shoulder pain during his acute rehabilitation stay. He was found to have osteolysis of the distal right clavicle (Gorham's disease). He was treated conservatively with nonsteroidal anti-inflammatory drugs and relative rest and experienced good functional outcome. Although the differential diagnosis for shoulder pain in the paraplegic patient during acute rehabilitation is extensive, it is important to consider less common but still important etiologies such as Gorham's disease.