Gorham-Stout disease is a rare osteolytic disorder with an unclear pathophysiology. It presents as lesions characterized by the loss of the bony matrix and the proliferation of malformed vasculature. At present, there are no gold-standard diagnostic evaluation protocols and it is diagnosed through a mixture of clinical, histopathologic, and radiographic findings. We report a case of a 19-year-old female with Gorham-Stout disease presenting with an 8-year progressive soft tissue mass in the mandible. Extensive osteolysis of the mandible with clustering of the mandibular dentition is noted on computed tomography (CT) imaging. Her case was discussed in a multidisciplinary conference and her treatment was radiotherapy followed by surgery ± reconstruction. We used a CT-based three-dimensional planning technique to give 40 Gy over 20 treatment sessions to the involved areas. Post treatment, a repeat CT was done at six weeks to reassess for disease progression or stabilization, followed by surgical excision. As of 31 October 2021, no evidence of recurrence is noted 48 months after treatment. Arriving at a definitive diagnosis with GorhamStout disease is challenging and a multidisciplinary team approach can help determine the treatment choice with best outcomes.

Osteolysis, Essential ; Gorham-stout Disease

Gorham-Stout disease is a rare osteolytic disorder with an unclear pathophysiology. It presents as lesions characterized by the loss of the bony matrix and the proliferation of malformed vasculature. At present, there are no gold-standard diagnostic evaluation protocols and it is diagnosed through a mixture of clinical, histopathologic, and radiographic findings. We report a case of a 19-year-old female with Gorham-Stout disease presenting with an 8-year progressive soft tissue mass in the mandible. Extensive osteolysis of the mandible with clustering of the mandibular dentition is noted on computed tomography (CT) imaging. Her case was discussed in a multidisciplinary conference and her treatment was radiotherapy followed by surgery ± reconstruction. We used a CT-based three-dimensional planning technique to give 40 Gy over 20 treatment sessions to the involved areas. Post treatment, a repeat CT was done at six weeks to reassess for disease progression or stabilization, followed by surgical excision. As of 31 October 2021, no evidence of recurrence is noted 48 months after treatment. Arriving at a definitive diagnosis with GorhamStout disease is challenging and a multidisciplinary team approach can help determine the treatment choice with best outcomes.
Gorham-Stout disease ; disappearing bone disease ; osteolysis, essential

Objective: To investigate the clinicopathological features, clinical manifestations and different diagnosis of patients with complicated lymphatic anomaly. Methods: The clinical and pathologic data of four patients with complicated lymphatic anomaly diagnosed and treated in Peking Union Medical College Hospital from January 2000 to December 2021 were collected and analyzed. Results: One Gorham-Stout disease case and three generalized lymphatic anomaly cases were included in this cohort. Patients' ages ranged from 7 to 32 years. There were three males and one female. The positions of biopsy included three bone biopsy and one bronchus biopsy. Microscopically, all cases showed diffuse enlarged lymphatic channels. At the same time, osteogenesis was obvious in Gorham-Stout disease case. Radiologically, cortical loss was seen in Gorham-Stout disease, and lytic bone confined to the medullary cavity presented in generalized lymphatic anomaly. The three generalized lymphatic anomaly cases also had coagulopathy, and two had effusion. Conclusions: The histologic feature of complicated lymphatic anomaly was diffuse lymphatic malformation, and the diagnosis depends on clinical and pathologic information. The treatment and prognosis of these diseases are different, and therefore it is necessary to understand their clinical and pathologic features and make the correct diagnosis.
Male ; Humans ; Female ; Child ; Adolescent ; Young Adult ; Adult ; Osteolysis, Essential/pathology* ; Lymphatic Abnormalities/surgery* ; Bone and Bones/pathology* ; Diagnosis, Differential ; Prognosis

Gorham-Stout disease (GSD) was first described by Gorham and colleagues in 1954, but its precise mechanism and cause remain to be elucidated. In this condition, voluminous and potentially fatal chylous effusions into the thorax can occur. Herein, we describe a case of GSD in which the patient presented with massive pleural effusions and mottled osteolytic bone lesions. We performed multiple operations, including thoracic duct ligation using video-assisted thoracoscopic surgery and thoracotomic decortication, but these procedures did not succeed in preventing recurrent pleural effusion and chest wall lymphedema. After administering sirolimus (0.8 mg/m2, twice a day) and propranolol (40 mg, twice a day), the process of GSD in this patient has been controlled for more than 2 years.
Chylothorax ; Humans ; Ligation ; Lymphedema ; Osteolysis, Essential ; Pleural Effusion ; Propranolol ; Sirolimus ; Thoracic Duct ; Thoracic Surgery, Video-Assisted ; Thoracic Wall ; Thorax

Bone Cements ; Femur ; pathology ; Humans ; Osteolysis, Essential ; therapy ; Syndrome

Gorham-Stout disease is a rare bone disorder that is characterized by angiomatous proliferation and results in destruction and resorption of the osseous matrix. It has variable presentations and a number of different sites may be affected, including the dermis, soft tissue, and viscera. The involved cutaneous and soft tissue lesions typically present with sponge-like, soft, brown or purple lesions. The clinical course is generally prolonged, with eventual stabilization of the affected bone; however, it is rarely fatal. There is no standard treatment defined for this disease, and variable therapies such as medical, surgical, and radiation therapy have been used. We report a case of 24-year-old man with Gorham disease who presented with progressive cutaneous lesions and severe lymphedema adjacent to the diseased bone.
Dermis ; Humans ; Lymphedema ; Osteolysis, Essential* ; Viscera ; Young Adult

Osteolytic disease of the bones have a myriad range of aetiology. One rare cause is Gorham’s disease or disappearing bone disease. This disease is a diagnosis by exclusion using correlation made with clinical presentation, radiological findings and histopathological confirmation. Although many different therapies have been advocated, none have been successful in fully controlling this disease. We present a case that was detected in a Chinese lady using diagnostic imaging, confirmed with computed tomography guided biopsy and successfully treated with joint reconstruction using endoprosthesis.
Osteolysis, Essential

Multicentric disappearing bone disease, or Gorham disease, is a rare entity. A middle age woman, presented to us with left sided antalgic gait and severe bony deformity of her left knee. Radiograph revealed massive bone defect of the medial condyle of the left tibia with subluxation of the knee joint. She was scheduled for knee replacement in six months. However, she developed another lesion over the right hip that typically mimicked the disease progression of disappearing bone disease. The right femoral head vanished progressively within three months without significant history of infection or trauma. Subsequent bone biopsy of the right femoral head and left tibia condyle confirmed the diagnosis. Total knee replacement was carried out for her left knee. She remained pain free on her left knee. A year later, after confirming by sequential radiographs that the osteolysis had stopped, total right hip replacement was performed. Five years later, she remained pain free and both the arthroplasties were stable.
Osteolysis, Essential

OBJECTIVETo explore clinical, radiographical and genetic characteristics of classical Hutchinson-Gilford progeria syndrome (HGPS).

METHODData of a case of HGPS diagnosed at Tongji Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology was analyzed and related literature was reviewed.

RESULTAt the age of 8 months, the affected-infant presented with characteristic manifestation such as short stature, low weight, frontal bossing, alopecia, prominent scalp veins, micrognathia with a vertical midline groove in the chin, sclerodermatous skin, knee joints contracture with a horse-riding stance, and limited range of movement of ankle joints. Blood test showed blood platelet count (416-490) ×10(9)/L. Lower extremities MRI showed reduced subcutaneous fat. LMNA gene analysis showed that the affected-infant carried typical heterozygous mutation: c. 1824C>T (p. G608G), while his parents were normal. At the age of 13 months, X-rays showed short distal phalanges and clavicles with acro-osteolysis. After following up for 15 months, his appearance of progeria became more apparent. As far as we know, there are only 2 cases of classical HGPS confirmed by gene analysis in China.

CONCLUSIONClassical HGPS should be considered when infants appeared with sclerodermatous skin. Genetic analysis could help to diagnose classical HGPS as early as possible and avoid unnecessary investigations. In addition, affected-infants need to be long term followed-up and provided genetic counseling.

Abnormalities, Multiple ; diagnosis ; pathology ; DNA Mutational Analysis ; Diagnosis, Differential ; Hand ; diagnostic imaging ; pathology ; Humans ; Infant ; Lamin Type A ; genetics ; Lower Extremity ; diagnostic imaging ; pathology ; Male ; Mutation ; genetics ; Osteolysis, Essential ; pathology ; Progeria ; diagnosis ; genetics ; pathology ; Retrospective Studies ; Skin Diseases ; diagnosis ; genetics ; pathology ; Tomography, X-Ray Computed

We present a case of a 13-year-old boy with Gorham's disease involving the thoracic and lumbar spine, femur, and gastrointestinal (GI) tract, which was complicated by recurrent chylothorax and GI bleeding. The presenting symptoms were intermittent abdominal pain, back pain, and melena. Esophagogastroduodenoscopy and colonoscopy showed no abnormal lesions, but duodenal biopsy showed marked dilation of the lymphatics in the mucosa and submucosa, which revealed positive staining with a D2-40 immunohistochemical marker. In cases of GI bleeding with osteolysis, the expression of a D2-40 marker in the lymphatic endothelium of the GI tract may help to diagnose GI involvement in Gorham's disease. To the best of our knowledge, this is the first case report to pathologically demonstrate intestinal lymphatic malformation as a cause of GI bleeding in Gorham's disease.
Abdominal Pain ; Adolescent ; Back Pain ; Biopsy ; Child ; Chylothorax ; Colonoscopy ; Duodenum* ; Endoscopy, Digestive System ; Endothelium, Lymphatic ; Femur ; Gastrointestinal Tract* ; Hemorrhage ; Humans ; Male ; Melena ; Mucous Membrane ; Occult Blood ; Osteolysis ; Osteolysis, Essential ; Spine