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The Great Mimicker: Atypical Gout Presentations from an Orthopaedic Oncology Perspective
Abstract
We present 5 cases of atypical gout presentation in which the initial diagnostic workup suggested disease processes ranging from benign osseous lesions, such as giant cell tumor of bone or aneurysmal bone cyst, to neoplastic or metastatic lesions. As gout can mimic more nefarious conditions, it should be considered in the initial diagnostic workup of lytic and expansile lesions in a patient with the appropriate risk factors. A rational and systematic approach to any soft-tissue or osseous lesion typically results in prompt diagnosis and treatment. Providers who do not have extensive experience treating soft-tissue or osseous lesions should consider referring to an orthopaedic oncologist, especially when a diagnosis of a benign lesion cannot be definitively made.
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Gout is a metabolic disease that occurs either because of increased uric acid production or decreased uric acid secretion. It most commonly affects middle-aged to elderly men and postmenopausal women. Chronic tophaceous gout frequently occurs after 10 years or more of recurrent polyarticular gout. Gouty tophi are deposition of monosodium urate (MSU) crystals in and around joints as well as soft tissues. We present a case of chronic tophaceous gout in a 21-year-old male, which occurred after 4 years of onset of gouty arthritis. The patient presented with tophaceous gout in four forms, that is, periarticular subcutaneous tophi, disseminated intradermal tophi, ulcerative form, and miliarial tophi along with multiple sinuses discharging chalky white material. The case was diagnosed as chronic tophaceous gout on the basis of raised serum uric acid, imprint smear showing needle-shaped crystals and negatively birefringent crystals on polarized microscopy. The case is interesting for varied morphological forms of tophaceous gout in a patient at an early age and shorter interval between onset of gouty arthritis and tophaceous gout.
Non-infectious soft tissue lesions of the foot and ankle are relatively rare clinically. These include benign and malignant neoplasms, as well as non-neoplastic or pseudotumoral lesions such as ganglionic, synovial and epidermoid cysts, intermetatarsal and adventitious bursitis, inflammatory lesions like gouty tophi and rheumatoid nodules, Morton’s neuroma, and granuloma annulare.
A 48-year-old male with a history of medically treated tophaceous gout presented with left foot neuropathic pain and paresthesia, in the setting of a well-circumscribed soft tissue lesion of the second intermetatarsal space, suspected to be a Morton’s neuroma. Magnetic resonance imaging (MRI) showed a 4.1 x 2.7 x 2.6 cm heterogeneous soft tissue mass containing multiple cystic areas. Excisional biopsy was performed and histologic examination revealed well-circumscribed nodules of amorphous material containing needle-shaped clefts, rimmed by histiocytes, and multinucleated giant cells consistent with a gouty tophus.
This is the first case reported in the literature of an intermetatarsal gouty tophus causing neuropathic pain and paresthesia. While Morton’s neuroma is the most common cause of this presentation, this case illustrates that other pseudotumoral lesions, such as a gouty tophus, may present similarly, and should be considered in the differential diagnosis. While most cases of tophaceous gout can be adequately treated with urate-lowering therapy, surgery may be indicated for tophi that do not resolve with medical treatment based upon symptom severity, compression of nearby structures, and functional impairment.
Gout is a picturesque presentation of uric acid disturbance. It is the most well understood and described type of arthritis. Its epidemiology is studied. New insights into the pathophysiology of hyperuricemia and gouty arthritis; acute and chronic allowes for a better understanding of the disease. The role of genetic predisposition is becoming more evident. The clinical picture of gout is divided into asymptomatic hyperuricemia, acute gouty arthritis, intercritical period, and chronic tophaceous gout. Diagnosis is based on laboratory and radiological features. The gold standard of diagnosis is identification of characteristic MSU crystals in the synovial fluid using polarized light microscopy. Imaging modalities include conventional radiography, ultrasonography, conventional CT, Dual-Energy CT, Magnetic Resonance Imaging, nuclear scintigraphy, and positron emission tomography. There is remarkable progress in the application of ultrasonography and Dual-Energy CT which is bound to influence the diagnosis, staging, follow-up, and clinical research in the field. Management of gout includes management of flares, chronic gout and prevention of flares, as well as management of comorbidities. Newer drugs in the pharmacological armamentarium are proving successful and supplement older ones. Other important points in its management include patient education, diet and life style changes, as well as cessation of hyperuricemic drugs.
Gout is an inflammatory arthritis characterized by the deposition of monosodium uratecrystals in the synovial membrane, articular cartilage and periarticular tissues leading toinflammation. Men are more commonly affected, mainly after the 5th decade of life. Itsincidence has been growing with the population aging.In the majority of the cases, the diagnosis is made by clinical criteria and synovial fluidanalysis, in search for monosodium urate crystals. Nonetheless, gout may sometimes haveatypical presentations, complicating the diagnosis. In these situations, imaging methodshave a fundamental role, aiding in the diagnostic confirmation or excluding other possibledifferential diagnosis.Conventional radiographs are still the most commonly used method in gout patients'evaluation; nevertheless, this is not a sensitive method, since it detect only late alterations.In the last years, there have been several advances in imaging methods for gout patients.Ultrasound has shown a great accuracy in the diagnosis of gout, identifying monosodiumurate deposits in the synovial membrane and articular cartilage, in detecting and character-izing tophi and in identifying tophaceous tendinopathy and enthesopathy. Ultrasound hasalso been able to show crystal deposition in patients with articular pain in the absence of aclassical gout crisis.Computed tomography is an excellent method for detecting bone erosions, being use-ful in spine involvement. Dual-energy CT is a new method able to provide informationabout the chemical composition of tissues, with high accuracy in the identification ofmonosodium urate deposits, even in the early stages of the disease and in cases of difficultcharacterization.
Patellar tendon-related pain is common in the athletic patient. When it occurs in skeletally mature patients participating in running, jumping, or kicking sports, the diagnosis of jumper’s knee patellar tendonitis is usually made. If patellar tendon pain is associated with a mass, the differential diagnosis should be broadened to include crystalline arthropathy.
This article presents a case of a highly athletic 45-year-old man with a history of gout, anterior knee pain, and an enlarging mass in the region of the patellar tendon. Conservative management failed, and an excisional biopsy found it to be an intra-tendinous gouty tophus. To our knowledge, only 1 report exists documenting a patellar tendon mass secondary to gout, and no case report exists documenting this problem in an athlete. The interplay between athletics and gout has not been well described. Despite the long-term protective nature of fitness, transient elevations in uric acid associated with athletic endeavors may contribute acutely to manifestations of gout in some athletes. Resultant intra- or extra-articular pathology may present as, and easily be mistaken for, a sports-related injury. Without appropriate medical management, tophaceous deposition may continue to occur and treatment of the resultant mass may require surgical intervention.
Intraosseous gout involving the patella is an unusual presentation of the common inflammatory crystal deposition disease. In most reported cases of gout in the patella, there is prominent involvement of the adjacent patellar or quadriceps tendons of the extensor mechanism. A report from Japan describes another pattern of deposition, with a lesion arising in the synchondrosis of a bipartite patella. We present a case of a patient with no known history of gout experiencing vague anterior knee pain and subtle but rapidly progressive findings of a patellar lucent lesion on radiographs. No other cause for the patient’s pain was identified on imaging. No prominent involvement of surrounding tendinous structures on MRI, unipartite patellar morphology, normal serum uric acid levels, rapid growth, and nonspecific appearance of the lesion led to a working diagnosis of patellar giant cell tumor. Biopsy of the lesion was performed to guide further management, which yielded the unexpected result of crystalline deposits consistent with gout.
Intra-articular (IA) and peri-articular (PA) tumors of the knee are frequently encountered by orthopaedic surgeons. Nonetheless, due to the possibility of great morbidity and potential mortality, it is important to recognize and differentiate between benign and malignant lesions in a timely manner. Therefore, the purpose of this article is to provide a concise, practical, and updated review of commonly encountered IA and PA tumors including intratendinous gout, synovial chondromatosis, schwannoma, pigmented villonodular synovitis, and synovial sarcoma, and a detailed description of differentiating features to include various imaging modalities.
Gout is a common inflammatory crystal deposition disease that occurs in many joints throughout the body. Active gout is most often associated with painful synovitis causing searing joint pains, but gout can also produce large masses of space-occupying deposits called tophi. Tophi are most frequently seen in juxta-articular locations with or without bony erosion and are often misdiagnosed as degenerative joint disease. Soft tissue deposits and tendon involvement are also known manifestations of gout, but can present with indeterminate and alarming findings on imaging. We present three cases of tophaceous gout mimicking aggressive neoplasms in the extensor mechanism of the knee. All cases presented as extensor tendon masses eroding into the patella, with imaging findings initially concerning for primary musculoskeletal malignancy.
Soft-tissue masses of the extremities are common entities encountered by nearly all providers of musculoskeletal patient care. Proper management of these lesions requires a specific process of evaluation. A detailed history and physical examination must be performed. Appropriate imaging studies must be obtained based on clinical indications. MRI is the imaging modality of choice for diagnosis of soft-tissue masses, with CT and ultrasonography used as secondary options. These modalities aid the clinician in developing an appropriate differential diagnosis and treatment plan. When the initial evaluation is inconclusive, biopsy must be performed. A diagnosis must be established before definitive treatment with surgical excision or, in rare cases, radiation therapy is performed. Clinicians without significant experience in treating soft-tissue masses should consider referral to a musculoskeletal oncologist for specialized care when a definitive diagnosis of a benign lesion cannot be made. Several studies have shown that multidisciplinary care in specialized referral centers optimizes outcomes and diminishes comorbid complications.
Atypical presentation of gout can cause diagnostic dilemmas. We report a case of gout that presented with an expansile lytic lesion involving the interphalangeal joint of the hallux, lack of a history of gout, and an associated solitary lung nodule. Magnetic resonance imaging showed an expansile destructive bony lesion with soft-tissue involvement suggestive of a possible bony metastasis. A needle biopsy was performed, and histopathologic features were diagnostic of chronic tophaceous gout. (J Am Podiatr Med Assoc 102(3): 256-258, 2012)
Gout is a disease where an abnormal collection of uric crystals (gouty tophi) can often be found in the foot and ankle. Occasionally such tophies are found at unusual sites and this can pose a challenge to the clinician where diagnosis and treatment is concerned. We describe a patient who presented to our oncology department with a swelling on his right thigh which was clinically diagnosed to be a soft tissue sarcoma, but after further investigations it turned out to be a gouty tophi. The purpose of this case report is to emphasise the variable presentation of gout and the challenges that can be faced by clinicians in diagnosing a soft tissue swelling.
Gouty tenosynovitis in the hand may be misdiagnosed as infectious or rheumatoid synovitis. Our case initially was treated as infectious tenosynovitis, but at reoperation gouty deposits were found penetrating the flexor tendon sheath. Tenosynovectomy and excision of intratendinous tophi were performed with a good result. Gouty synovitis is diagnosed in specimens fixed with ethanol because formalin destroys the typical crystals of urate. © 1987 Informa UK Ltd All rights reserved: reproduction in whole or part not permitted.
We carried out a prospective study of the effectiveness of a diagnostic strategy in forty consecutively seen patients who had skeletal metastases of unknown origin. The diagnostic strategy consisted of the recording of a medical history; physical examination; routine laboratory analysis; plain radiography of the involved bone and the chest; whole-body technetium-99m-phosphonate bone scintigraphy; and computed tomography of the chest, abdomen, and pelvis. After this evaluation, a biopsy of the most accessible osseous lesion was done. The laboratory values were non-specific in all patients. The history and physical examination revealed the occult primary site of the malignant tumor in three patients (8 per cent): one patient who had carcinoma of the breast; one, of the kidney; and one, of the bladder. Plain radiographs of the chest established the diagnosis of carcinoma of the lung in seventeen patients (43 per cent). Computed tomography of the chest identified an additional six primary carcinomas of the lung (15 per cent). Computed tomography of the abdomen and pelvis established the diagnosis in five patients (13 per cent): three patients who had carcinoma of the kidney; one, carcinoma of the liver; and one, carcinoma of the colon. Examination of the biopsy tissue established the diagnosis in only three additional patients (8 per cent) and confirmed it in eleven others. On the basis of the biopsy alone, we were unable to identify the primary site of the malignant tumor in twenty-six (65 per cent) of the patients. In thirty-four (85 per cent) of the forty patients, the primary site was identified with the use of the diagnostic strategy described here, and only two additional occult malignant tumors were found on follow-up studies. Our diagnostic strategy was simple and highly successful for the identification of the site of an occult malignant tumor before biopsy in patients who had skeletal metastases of unknown origin.
A variety of local or systemic conditions may mimic an infectious process in the hand and upper extremities. Familiarity with these conditions is important so that appropriate diagnosis and management may ensue. Most of the conditions presented in this article may be successfully managed nonsurgically; however, certain conditions such as the extravasation of a chemotherapy agent or retained foreign body require surgical intervention.
Digital lesions can have a broad differential diagnosis. Squamous cell carcinoma (SCC), the most common digital malignant neoplasm, must be excluded as the cause of persistent digital lesions causing nail dystrophy.
To describe a patient with a periungual hyperkeratotic lesion on the left fifth digit which, upon initial dermatopathologic examination, appeared to be a malignancy. However, on further biopsy, the lesion proved to be a gouty tophus.
Case report and literature review.
An 84-year-old white man presented with a hyperkeratotic papule on the lateral proximal nail fold of the left fifth digit, which resulted in nail dystrophy for 1 year. Similar lesions were present on several other digits which did not affect the nail plate. Initial biopsy was consistent with actinic keratosis and was treated with cryotherapy. When the lesion persisted, repeat biopsy was performed, demonstrating fragments of squamous epithelium with focal atypia and an infiltrative growth pattern. SCC could not be excluded and the patient was referred for Mohs micrographic surgery (MMS) consultation. An excisional biopsy was performed and a white chalky material was observed at the base of the defect. Histopathology confirmed a gouty tophus. The patient was referred to his primary care physician and was treated with allopurinol.
This is the first report of gouty tophus of the periungual region presenting as a hyperkeratotic lesion. Initial clinical diagnosis favored SCC and histologic evidence suggested a possible early SCC. This lesion can be confused with digital squamous cell carcinoma. The presence of pseu- docarcinomatous hyperplasia may complicate accurate diagnosis.
Gout presenting as an osteolytic lesion is exceedingly rare in children with asymptomatic hyperuricemia. We report the clinical and radiological presentation of intraosseous gout in a 13-year-old boy.