A 17-year-old female patient reported a primary concern of swelling on the right side of her face/cheek since birth, with a gradual increase in size (Figure 1). Additional complaints included pain and the loosening of teeth in the jaw. No fever, trauma, swelling, sinus opening, or pus discharge were reported. Medical, personal, and family histories did not reveal any relevant information.
Due to a suspicion of vascular malformation, an ultrasound examination revealed soft tissue thickening of the face with increased internal vascularity. A craniofacial computed tomography (CT) scan was conducted, unveiling soft tissue thickening in the subcutaneous tissue of the right half of the face, hypertrophy of the parotid gland, and osteolytic processes affecting the right hemimandible, maxillary alveolus, zygoma, greater wing of the sphenoid, and pterygoid body and plates. No periosteal reaction or reactive new bone formation was evident around the remaining bone tissues (Figures 2a, 2b, 2c, 2d, 2e and 2f). A diagnosis of Gorham–Stout syndrome was established based on the clinical and radiological findings.
Background
Gorham–Stout syndrome, also known by various synonymous names such as Gorham’s disease (GD), vanishing bone disease, phantom bone disease, disappearing bone disease, progressive osteolysis, idiopathic massive osteolysis, haemangiomatosis, and lymphangiomatosis, is a rare condition characterised by the proliferation of thin-walled vascular channels leading to the destruction and resorption of the osseous matrix [1]. Initially described by Jackson in 1838 based on a limb devoid of bone, Gorham and Stout established it as a distinct disease entity in 1955, reviewing 24 cases from the literature [2,3]. The syndrome can affect any bone in the human skeleton, with the mandible being the most frequently impacted in the maxillofacial area [4]. GD manifests as progressive, idiopathic osteolysis centred around a single focus, with no bone regeneration even after the osteolysis ceases. Though typically painless, it causes significant functional issues and can affect both young and elderly individuals, showing a slight male predilection [5].
Clinical Perspective
The diagnosis in a typical case follows diagnostic criteria outlined by Heffeze et al., including minimal osteoblastic response, positive biopsy indicating angiomatous tissue, absence of cellular atypia, evidence of local progressive osseous resorption, non-expansile non-ulcerative lesion, absence of visceral involvement, osteolytic radiographic pattern, and negative findings for hereditary, metabolic, neoplastic, immunologic, or infectious aetiology [6].
GD manifests in two phases: the initial phase involves progressive bone destruction with mild to moderate pain, tissue swelling, and erythema, while the subsequent phase is marked by quiescence without swelling, pain, or osteolysis. The duration of these phases is unpredictable, with the initial phase lasting from months to years. Despite the painless nature of the osteolytic process, patients can engage in normal activities, increasing the risk of pathologic fractures. Radiographic assessment is crucial for initial diagnosis, ongoing management, and long-term follow-up [7].
Imaging Perspective
Radiographically, GD is characterised by varying-sized radiolucencies that gradually expand and merge during bone dissolution. Key signs in mandibular osteolysis include loss of cortical bone, the disappearance of the alveolar lamina dura, trabecular porosis, and atrophy of the bone contour. The aetiology of massive osteolysis remains unclear, with potential associations with trauma, vascular disorders, and neuropathy. Histopathological findings indicate replacement of the site of osteolysis with capillary-enriched fibrous tissue devoid of osteoclasts [8–11].
Outcome
Diagnosing GD requires excluding common causes of osteolysis through biopsy [12,13]. The prognosis of GD varies, making treatment decisions challenging. Medical interventions include radiation therapy, bisphosphonates, and alpha-2b interferon, while surgical approaches involve lesion resection and reconstruction using bone grafts or prostheses. However, the efficacy of treatments remains inconclusive, and patients opting for high-dose radiation therapy should consider potential risks. Ongoing research is essential for effective therapeutic interventions, and awareness among physicians is crucial for accurate diagnosis and appropriate treatment [14–16].
Take Home Message / Teaching Points
Gorham–Stout syndrome
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
1. From the provided clinical facial photographs, a noticeable swelling is observed on the right cheek, showing a chronic and progressively worsening pattern.
2. CT imaging reveals significant bony destruction and resorption in the right mandible (and part of the maxilla or surrounding bone), with an irregular local bone contour and a clear interruption or absence of cortical bone continuity.
3. In soft tissue layers, localized thickening and density changes are seen, but there is no significant abscess or obvious liquefaction.
4. No definite fracture line is visible; however, the marked reduction in bone density warrants close monitoring for potential pathological fractures.
5. Overall, the lesion primarily involves the right mandibular ramus and body. The borders are unclear, exhibiting a gradual “dissolution” characteristic on imaging, suggesting a progressive bone destruction process.
Based on the patient’s age, clinical presentation (progressive facial swelling since childhood without significant infection or trauma history), and imaging findings (extensive bone resorption with localized vascular or soft tissue changes), the most likely diagnosis is Gorham-Stout Syndrome.
If uncertainties remain, a histopathological biopsy is recommended to detect hemangioma-like or lymphangioma-like proliferation, which would help exclude other benign or malignant lesions.
1. Overview of Treatment Strategies:
· Medications and Radiotherapy: Reported treatments in the literature include bisphosphonates to inhibit bone resorption, interferon α-2b, and localized radiotherapy. However, responses vary significantly among patients.
· Surgical Treatment: In cases with rapid progression or severe functional or cosmetic deformities, surgical debridement and reconstruction (e.g., bone grafts or prosthetic reconstruction) may be considered. Thorough assessment of local vascular proliferation is crucial, as surgical risks can be relatively high.
· Follow-Up and Multidisciplinary Management: The course of GD is often unpredictable. A multidisciplinary approach (oral and maxillofacial surgery, radiology, orthopedics, vascular surgery, etc.) with regular imaging and close monitoring is recommended to track disease progression.
2. Rehabilitation/Exercise Prescription (FITT-VP Principle):
· Frequency (F): Begin with low-intensity activities 3–4 times per week.
· Intensity (I): Tailor to the patient’s overall bone condition, avoiding pain and fatigue. Start with low-intensity daily activities (e.g., walking) and avoid excessive weight-bearing or impact exercises.
· Time (T): Start at 15–20 minutes per session, gradually extending to 30 minutes as tolerated.
· Type (T): Focus on aerobic conditioning and maintaining muscle strength (e.g., walking on flat surfaces, light resistance training with bands or small dumbbells, and aquatic exercises). Avoid falls and injuries.
· Volume/Progression (V/P): As long as bone status remains stable, gradually increase exercise duration and intensity. Monitor stress on the mandible and pain closely, adjusting as necessary. Discontinue and seek medical advice if pain or new discomfort occurs.
3. Precautions:
· Due to fragile bone, avoid high-impact or fall-prone activities (e.g., running, jumping, contact sports).
· Continuously observe local pain, swelling, or functional changes. If they worsen significantly, seek medical attention immediately.
· Combine with nutritional guidance and consider appropriate supplementation of calcium and vitamin D to support bone health.
Disclaimer: This report is a reference analysis based on available information and does not replace an in-person clinical diagnosis or professional medical advice. If you have any concerns or if your condition changes, please consult a specialist promptly.
Gorham–Stout syndrome
