Gorham-Stout disease presenting as chest wall defect: A case report and review of literature

Abstract

Gorham-Stout disease (GSD), also known as vanishing bone syndrome, is an extremely rare, non-malignant condition marked by progressive osteolysis due to abnormal intraosseous lymphatic and vascular proliferation. Extensive chest wall involvement is particularly uncommon and can present without symptoms, complicating diagnosis and management. In this study, a review of similar cases in the literatures is tabulated with comparison of this case to other articles is presented. A 24-year-old male presented with an incidental finding of “hollowness” in his right chest wall following a muscle strain, but remained asymptomatic otherwise. Imaging revealed near-total disappearance of the right 4^th to 6^th ribs anterolaterally, and partial resorption of the 7^th and 8^th ribs laterally. MRI confirmed extensive osteolysis with prominent lymphatic and vascular malformations. Histopathologic evaluation showed degenerative bony trabeculae with fibrous tissue and lymphovascular proliferations, confirming GSD. The patient was managed conservatively—vitamin D and calcium supplementation. No progression of disease was detected at subsequent follow-ups. This case underscores the need for high clinical suspicion and comprehensive evaluation in unexplained rib osteolysis. While various medical (bisphosphonates, sirolimus, interferon-α2b) and surgical interventions have been employed, no standard therapy is established. In asymptomatic patients without life-threatening complications, conservative management may be appropriate. The treatment should be personalized based on disease course and complications. The unpredictable prognosis mandates long-term monitoring.

Gorham-Stout disease (GSD)/vanishing bone syndrome is an exceedingly rare, non-malignant sporadic bone disease characterized by abnormal, intraosseous proliferation of lymphatic and vascular (angiomatous) structures, leading to progressive massive osteolysis and osseous resorption.^{[1, 2, 3, 4, 5]} Its exact etiology and pathogenesis remain unknown;^[1] however, a few reports have suggested trauma as a trigger.^[2] While GSD can affect any part of the skeleton, our patient presented with extensive involvement of the right 4^th to 8^th ribs, a less common, yet significant, site of disease.^{[1, 2, 5]} The asymptomatic nature of this case contrasts sharply with many reported cases that present with pain, dyspnea, functional impairment, or pathological fractures.^[3] This case underscores that GSD can present with extensive bone destruction without overt symptoms, emphasizing the importance of a high index of suspicion in unexplained osteolysis.

Case Report

A 24-year-old male was referred from a primary care center after noticing a “hollowness” in his right chest wall incidentally following a muscle strain during strenuous labor that he started recently. He reported no other associated symptoms such as pain, dyspnea, or constitutional symptoms, with no history of trauma and unremarkable past medical and family history. Physical examination revealed an 8x9 cm palpable defect in the right anterolateral chest wall, predominantly over the 5^th and 6^th intercostal regions, with circumferential extension involving the 7^th and 8^th intercostal spaces posterolaterally. Ribs were palpable along the margins of the defect, which was non-tender. There was no soft tissue loss. Routine laboratory parameters were unremarkable, except for mild anemia (hemoglobin 9.8 g/dL).

A chest radiograph revealed near-total disappearance of the right anterior ribs. A computed tomography (CT) scan of the thorax was obtained to ascertain the full extent of osseous destruction. It revealed extensive destruction and resorption of the right 4^th-6^th ribs anterolaterally and partial resorption of the right 7^th and 8^th ribs laterally. The appearance was consistent with massive osteolysis. The remaining ribs, sternum, clavicles, vertebral bodies, and scapulae appeared largely intact, without any mass lesion or effusion (Figures 1, 2). Magnetic resonance imaging (MRI) of the thorax was performed for further evaluation, which confirmed the osteolysis visualized by CT thorax. It also revealed the presence of prominent lymphatic and vascular malformations interspersed with fibrous tissue within the affected areas. On T1-weighted MRI, a homogeneous mass of low signal intensity with that of muscle was noted. On T2-weighted MRI, a heterogeneous mass with high signal intensity was observed. On contrast-enhanced fat-saturated T1-weighted MRI, the mass and bone marrow revealed minimal and relatively homogenous enhancement, consistent with the characteristic soft tissue proliferation associated with GSD, and further delineating the extent of these changes that were subsequently confirmed by histopathological analysis. Two percutaneous bone biopsies were taken from the tip of the right 7^th rib, which was approached via a small incision. Histopathology revealed degenerative bony trabeculae with prominent lymphatic and vascular malformations interspersed with fibrous tissue. 

Figure 1.

A-C: Computed tomography (CT) – Thorax volume rendered image shows irregular extensive destruction and resorption of anterior and lateral aspect of right 4^th, 5^th and 6^th ribs with partial resorption of right 7^th and 8^th ribs (red arrows). D: CT – Thorax volume rendered image shows normal posterior ribs.

Figure 2.

A: Computed tomography (CT) – Thorax: Soft tissue window shows no evidence of extraosseous soft density lesions. B: CT – Thorax: Bone window shows no periosteal reactions.

Following comprehensive clinical, radiological, and histopathological evaluation, a diagnosis of GSD was established. Given the asymptomatic nature of the condition, the patient opted to defer surgical intervention and radiotherapy, instead choosing conservative management. The patient was managed conservatively with vitamin D and calcium supplementation. Follow-up assessments at 6 months and 1 year demonstrated static disease, with no progression of osteolysis or development of disease-related complications.

Discussion

Gorham’s disease has been described in patients as young as one month and as old seventy-five years.^[5] Clinical presentation of GSD is highly variable, ranging from incidental asymptomatic defects to significant dull aching pain, dyspnea, localized swelling, functional impairment of the affected region, or even a pathological fracture.^{[1, 2, 3, 4]} In more severe presentations involving the thoracic skeleton, insidious onset of dyspnea, often complicated by chylothorax, can occur and carries a poorer prognosis.^[6] However, significant involvement of the chest wall, as observed in our patient, is notably rare yet well-documented in the medical literature.^{[1, 2]} The clinical manifestation of GSD is highly variable and directly correlates with the anatomical site of involvement. Laboratory evaluation including alkaline phosphatase are usually within normal limits.^[5] Among 9 patients across 6 published literatures and this case (Table 1), the age range was 14-48 years, with 6 males and 3 females. Multiple ribs were affected in all cases, with 6/9 cases affecting left and 3/9 cases affecting right side, with sternum involvement only in 3/9 cases. Soft tissue mass was identified in 7/9 cases and chylothorax was present in 6/9 cases (left or bilateral). Conversely, as exemplified by the present case, some individuals remain entirely asymptomatic or without or functional impairment despite experiencing substantial bone destruction.

Table 1. Summary of published cases of Gorham-Stout disease involving the chest wall and ribs.

Journal	Age, gender	Presentation	Rib involvement	Sternum involvement	Any soft tissue mass in thorax (vascular/lymphangiomatous proliferation or fibrous tissue)	Chylothorax status	Treatment provided for osteolysis	Treatment provided for chylothorax	Outcome
J Thorac Imaging[1]	29, M	Left back pain for 5 months without preceding trauma, had dyspnea 2 months prior to the diagnosis	Left 1st, 2nd rib	-	+	Left	-	Repeated aspiration	Stable for 1 year
Iran Red Crescent Med J[2]	48, M	Dyspnea and pain in the left hemithorax following a chest blunt trauma three months before	Left 2nd to 6th ribs	-	+	Left	Radiotherapy, bisphosphonate (pamidronate), thalidomide	Thoracic duct ligation	Stable for 7 years
Chest.[3]	Case 1: 30, M Case 2: 18, M	Case 1: Posterior thoracic pain Case 2: Left-sided pleuritic chest pain and dyspnea	Case 1: left 3rd-6th ribs (posteriorly) Case 2: 1st and 2nd ribs	Case 1: - Case 2: +	Case 1: - Case 2: -	Case 1: bilateral Case 2: left	Radiation therapy	Case 1: Bilateral thoracentesis, medium-chain triglyceride diet, tetracycline pleurodesis, TPN, chest drains, left-sided thoracotomy, decortication of the lung, tetracycline pleurodesis, and emergency thoracotomy to create a pericardial window (for pericardial effusion) Case 2: Chest tube placement, TPN, limited high left posterolateral thoracotomy: Removal of clotted material, decortication of the left lung, unsuccessful attempt at high left thoracic duct ligation. low right thoracotomy with successful thoracic duct ligation	Case 1: Died 19 days later after the pericardial window procedure Case 2: Follow-up radiographs at 14 months showed progressive involvement of the distal left arm, ribs, and upper thoracic vertebrae
Medicina[4]	18, F	Weakness, myalgia, significant bone pain, and febrile syndrome	1st left rib (posterior arch)	-	-	Left	Alfacalcidol, vitamin D and calcium supplements.	Lumbar puncture, antibiotics, spine reconstruction surgery, physiotherapy, massage, kinetotherapy, pentoxifylline, gabapentin, baclofen.	Death occurred due to neurological complications in association with the presence of chylothorax
Pediatr Radiol[5]	Case 1: 16, F Case 2: 14, F	Case 1: Increasingly severe shortness of breath of several weeks Case 2: Mass medial to the right scapula	Case 1: Multiple ribs on the right (anterior), Case 2: right 3rd and 4th ribs (posterior)	Case 1: + Case 2: -	Case 1: + Case 2: +	Case 1: - (serous fluid present) Case 2: - (serosanguineous fluid +)	Case 1: NA Case 2: Dexamethasone and radiation therapy	Case 1: NA Case 2: radiation therapy	Case 1: NA Case 2: Extension of mass noted after 3 years
Int J Rheum Dis[6]	19, M	Persistent anterior chest wall pain for 2 months, without prior history of trauma	Right 1st-3rd and 6th-9th ribs	+	Present, cardiac tamponade	Bilateral	Closed reduction, internal fixation and reconstruction of fracture, bisphosphonate (zoledronate), calcium carbonate, ergocalciferol and radiation therapy	Pleurodesis, daily drainage, total parenteral nutrition, thoracic duct ligation, octreotide, IFN alfa-2b, radiation therapy, pericardiocentesis, low molecular weight heparin	Dead after 10 months of diagnosis
This case	24, M	“Hollowness” in his right chest wall incidentally following a muscle strain	Right 4th-6th ribs (anterolaterally) and partial resorption of the right 7th and 8th ribs (laterally)	-	+	-	Vitamin D and calcium supplementation	-	Static disease, with no progression

NA: Not available; TPN: Total parenteral nutrition; VATS: Video-assisted thoracoscopic surgery; NSAIDs: Non-steroidal anti-inflammatory drugs; IFN: Interferon; F: Female; M: Male; “+”: Present; “-”: Absent.

Diagnosis is typically one of exclusion, based on comprehensive clinical, radiological, and histopathological evaluation. Our patient’s diagnosis followed this established paradigm, with typical radiological findings of massive osteolysis and a confirmatory biopsy showing lympho-vascular malformations interspersed with fibrous tissue. While diagnostic thoracentesis is crucial for cases with pleural effusion, it was not necessary for our asymptomatic patient. In few cases as perfectly echoed by our patient’s presentation, the clinical presentations would be milder than the finding as per imaging.^[3]

A critical aspect of GSD is the absence of a universally accepted definitive treatment, necessitating individualized management tailored to the disease’s unpredictable course and site-specific complications, particularly life-threatening effusions like chylothorax.^{[3, 6, 7]} Based on the available literature, the treatment modalities for GSD with rib involvement are diverse: with medical management involving bisphosphonates (pamidronate, alendronate, zoledronate), sirolimus, interferon-α2b, was a common therapy. Other medications included calcitonin, steroid therapy (e.g., dexamethasone, prednisone), propranolol, thalidomide, octreotide and various vitamin/calcium supplements. Radiotherapy was a frequently employed treatment, it is often considered in cases of failed conservative measures or when patients are not surgical candidates, with reports of arresting endothelial cell proliferation or recalcification.^{[3, 4, 6]} Surgical options were local resection with or without graft replacement, or extensive thoracic surgery (e.g., pleurectomy, decortication, rib excision). Treatment for chylothorax, when present, included chest drains, pleurodesis, thoracic duct ligation, pleurectomy, and specialized diets.^{[3, 6, 7, 8]}

The unpredictable outcomes, from spontaneous arrest to severe disability or mortality, underscore the importance of vigilant long-term follow-up and personalized care strategies for this challenging disorder.^{[2, 3, 4]}

In this review comprising 9 cases, 3 had stable disease, 1 had progression of the disease, with death reported in 3 cases and data not available for 2 cases. For patients like ours, particularly a daily laborer, the potential future need for supportive surgical interventions, such as implantable rib prostheses or 3D printed ribs, becomes a crucial point of discussion to address potential long-term functional deficits and provide structural support as he ages. However, due to the extreme rarity of the disease, and the financial constraints in developing countries achieving a consensus on such advanced surgical approaches remains challenging, emphasizing the importance of long-term follow-up and personalized management plans.

Our case demonstrates that GSD can present with extensive, asymptomatic osteolysis, highlighting the need for vigilance in unexplained bone loss. This case, with its favorable static course on conservative management in the absence of chylothorax, suggests a viable approach for select asymptomatic patients. Ultimately, understanding GSD’s diverse spectrum and prioritizing long-term, personalized care are crucial for managing this rare and challenging condition.

Ethics

Informed Consent: The authors declare that written informed consent was obtained for participation in this study.