Gorham-Stout disease of the shoulder girdle and cervico-thoracic spine: fatal course in a 65-year-old woman

Type IV osteolysis or Gorham-Stout syndrome is a rare condition characterized by recurrent vascular tumors that disrupt normal anatomical architecture. Gorham-Stout syndrome is most commonly associated with the skeletal system with resulting replacement of bone with scar tissue following tumor regression. The loss of entire bones has given Gorham-Stout syndrome the moniker vanishing bone disease. Natural progression of Gorham-Stout syndrome is characterized by spontaneous disease resolution. However, rare variants of recurrent, progressive, and/or systemic disease have been reported. We present a patient with a history of recurrent Gorham- Stout disease refractory to all treatment options considered. In addition to skeletal disease, our patient had soft tissue and cutaneous involvement, thus reflecting the more aggressive disease variant. Previous surgical attempts to control disease had been ineffective and the patient was referred to us for radiation therapy. Treatment with external beam radiation therapy resulted in good local control and symptom palliation, but full disease resolution was never accomplished. In addition to presentation of this patient, a review of the literature on etiological hypotheses and past/future treatment options was conducted and is included.

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“…Prompt therapeutic intervention is recommended with evidence of lymphatic or vertebral invasion. 1,7,10,16,17 …”

Section: Gorham-stout Syndrome Reviewmentioning

confidence: 99%

Chronic recurrent Gorham-Stout syndrome with cutaneous involvement

et al. 2010

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“…Patients generally present with bony deformity, with corresponding muscular weakness and localized pain. They suggested that the massive osteolysis results from angiomatosis within the involved bones and the surrounding soft tissue [4-6]. Renal involvement is more severe and occurs more frequently in the type 3 of Hardegger classification [1].…”

Section: Introductionmentioning

confidence: 99%

The diagnosis and management of patients with idiopathic osteolysis

et al. 2011

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Idiopathic osteolysis or disappearing bone disease is a condition characterized by the spontaneous onset of rapid destruction and resorption of a single bone or multiple bones. Disappearing bone disorder is a disease of several diagnostic types. We are presenting three patients with osteolysis who have different underlying pathological features. Detailed phenotypic assessment, radiologic and CT scanning, and histological and genetic testing were the baseline diagnostic tools utilized for diagnosis of each osteolysis syndrome. The first patient was found to have Gorham-Stout syndrome (non-heritable). The complete destruction of pelvic bones associated with aggressive upward extension to adjacent bones (vertebral column and skull base) was notable and skeletal angiomatosis was detected. The second patient showed severe and aggressive non-hereditary multicentric osteolysis with bilateral destruction of the hip bones and the tarsal bones as well as a congenital unilateral solitary kidney and nephropathy. The third patient was phenotypically and genotypically compatible with Winchester syndrome resulting in multicentric osteolysis (autosomal recessive). Proven mutation of the (MMP2-Gen) was detected in this third patient that was associated with 3MCC deficiency (3-Methylcrontonyl CoA Carboxylase deficiency). The correct diagnoses in our 3 patients required the exclusion of malignant osteoclastic tumours, inflammatory disorders of bone, vascular disease, and neurogenic arthropathies using history, physical exam, and appropriate testing and imaging. This review demonstrates how to evaluate and treat these complex and difficult patients. Lastly, we described the various management procedures and treatments utilized for these patients.

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“…GSS is characterized as a progressive osteolysis of one or more bones or joints associated with functional deficits and pain [ 2 ]. Onset is age-independent and the patient’s age at time of diagnosis varied between one month and 75 years [ 5 , 6 ]. Osteolysis can involve any bone but is most common in the shoulder girdle, pelvis, and facial skull; each represented by approximately 20% of all distributed cases [ 7 ].…”

Section: Resultsmentioning

confidence: 99%

“…Osteolysis can involve any bone but is most common in the shoulder girdle, pelvis, and facial skull; each represented by approximately 20% of all distributed cases [ 7 ]. Primary manifestation in the spine is seen less often; it rather occurs as secondary manifestation with 28 cases being reported [ 6 ].…”

Section: Resultsmentioning

confidence: 99%

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Gorham-Stout syndrome of the shoulder

Brunner

Rückl

Konrads

et al. 2016

SICOT-J

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Introduction: Gorham-Stout syndrome (GSS) is a rare but severe subtype of idiopathic osteolysis. There are no guidelines for the treatment of GSS. We analysed different diagnostic and therapeutic regimes and we describe the sucessful treatment of GSS considering individual patient factors. Methods: We diagnosed three patients with shoulder-specific GSS using clinical, radiological and histopathological examinations. Two out of three patients with similar clinical appearances were treated non-operatively. One patient was treated by reverse shoulder arthroplasty. All patients were analysed retrospectively using clinical and radiological evaluation with a mean follow-up of 42 (range 30–50) months. Results: Two patients had few symptoms of GSS and were treated conservatively. One patient underwent arthroplasty, with a good clinical result. No additional therapy, such as radiation or anti-resorptive medications, was needed for the stable fixation of the prosthesis and the termination of osteolysis. In all patients we found good clinical outcomes with high patient satisfaction. Discussion: GSS is diagnosed after exclusion of infectious, malignant, and systemic disorders. The diagnosis should be supported by clinical, radiological, and histopathological characteristics of patients. Different humoral and cellular changes have been reported in GSS, but lack sufficient supporting evidence. GSS is associated with angiomatous and lymphatic malformations. The changes in GSS and the theories of its pathophysiology may reveal.

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Gorham-Stout disease of the shoulder girdle and cervico-thoracic spine: fatal course in a 65-year-old woman

Cited by 38 publications

References 19 publications

Chronic recurrent Gorham-Stout syndrome with cutaneous involvement

Chronic recurrent Gorham-Stout syndrome with cutaneous involvement

The diagnosis and management of patients with idiopathic osteolysis

Gorham-Stout syndrome of the shoulder

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