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|Year : 2013 | Volume
| Issue : 3 | Page : 238-239
Great toe gouty tophus-like lesion revealing extensive tendon xanthomatosis in a asymptomatic hyperuricemic patient
S Agarwal, MN Akhtar
Department of Orthopedics and Trauma, North Eastern Indira Gandhi Regional Institute of Health and Medical Sciences, Shillong, Meghalaya, India
|Date of Web Publication||12-Sep-2013|
Department of Orthopedics and Trauma, North Eastern Indira Gandhi Regional Institute of Health and Medical Sciences, Shillong, Meghalaya
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Agarwal S, Akhtar M N. Great toe gouty tophus-like lesion revealing extensive tendon xanthomatosis in a asymptomatic hyperuricemic patient. J Postgrad Med 2013;59:238-9
|How to cite this URL:|
Agarwal S, Akhtar M N. Great toe gouty tophus-like lesion revealing extensive tendon xanthomatosis in a asymptomatic hyperuricemic patient. J Postgrad Med [serial online] 2013 [cited 2019 Nov 20];59:238-9. Available from: http://www.jpgmonline.com/text.asp?2013/59/3/238/118054
Xanthomas are characterized by the accumulation of lipid-laden macrophages and other inflammatory cells in response to cholesterol deposition in tissues. However, we do not find any xanthomatous lesion in relation to the great toe on search of literature.
A case is presented here who came to us with a tophus-like soft tissue lesion at the base of great toe. He had hyperuricemia but on detailed evaluation, he was found to be suffering with multitendon xanthomatosis and tophus-like lesion in relation to the big toe was actually a xanthoma and coexisting hyperuricemia was only an incidental finding.
A 37-year-old male officer in Indian armed forces, non-smoker, non-vegetarian, and occasionally alcoholic, attended the outpatient department of North Eastern Indira Gandhi Regional Institute of Health and Medical sciences (NEIGRIHMS), Shillong, with a tophus-like soft tissue lesion at the base of the left great toe [Figure 1]. The lesion was pea-sized to begin with 2 years back and gradually increased to the size of around 2 × 2 cm at the presentation. It was globular in shape, tense and firm in consistency, non-tender with well-defined margin. Overlying skin was smooth and mobile with no venous prominences or pulsations. The lesion was not associated with preceding symptoms of localized redness, pain, swelling, or discharge or any kind of dysfunction of the joints of the great toe, fever, and malaise. Patient was well oriented to time, place, and person and there was no neurological deficit in the limbs.
Preliminary investigations were done (Hb-14.3 g%, ESR-22 mm/1 st hour by Westergreen method, TLC/DLC-normal, C-Reactive protein-negative, Serum Uric acid-8.2 mg%, Renal and Liver function tests-normal). Although hyperuricemia was found, it was an incidental finding. In the absence of any preceding inflammation history and normal radiographs of the foot, the diagnosis of the gouty tophus was revisited. On further evaluation, patient mentioned about similar lesions at the elbows in the region of olecranon, at the knee near tibial tuberosity and at the knuckles of both the hands in relation to the extensor musculo-tendinous units of the extremities [Figure 2].
This made us to suspect the diagnosis of extensive xanthomatosis. Subsequently, serum lipid panel was advised. It revealed elevated serum cholesterol levels-343 mg%. However, serum triglycerides, VLDL, LDL were high normal and HDL was 50 mg%. This patient had no family history of hypercholesterolemia and xanthomatosis. Radiographs of the affected regions did not reveal any bony lesion but for increased soft tissue shadow [Figure 3]. Diagnosis was subsequently confirmed with MRI, which showed lobulated soft tissue lesion with speckled heterogeneous intensity on T1 and T2 surrounding the tendons. The intratendinous increased signal showed interdigitation within the normally low-signal tendon fibers. The signal intensity of intratendinous xanthomas not reduced on fat-suppressed images [Figure 4].
|Figure 3: Radiographs of (a) left foot; (b) hand shows increased soft tissue shadow in the regions of great toe MTP joint and MCP joints (2nd, 3rd and 4th) with no bony lesion|
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|Figure 4: Coronal T1‑weighted MRI of the left hand; a) in the plane of maximum diameter of the lesions (arrowheads). The lesions are lobulated, speckled, and low to intermediate signal intensity. Some amount (at this plane) of interdigitation (arrow) with the underlying extensor tendons is also seen. Coronal T2‑weighted fat‑suppressed image; (b) of the lesions over knuckles of 2nd (arrow) and 3rd MCP joints. The lesions are of low‑signal intensity|
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In view of the diagnostic findings on MRI scanning, it was decided to not puncture the swelling for further diagnostic evaluation.
This case report highlights that a seemingly tophus like soft tissue lesion in the region of 1 st metatarsophalangeal joint with hyperuricemia should prompt the search of multitendon xanthomatosis and with this possibility always kept in mind especially so when no similar case of great toe xanthoma has been found on search of literature.
When present, xanthomas have a predilection for the extensor tendons of the hand, particularly the metacarpophalangeal joints of the finger, Triceps, Achilles, and patellar tendons.  Nearly all cases of xanthomatosis are associated with either familial hypercholesterolemia , or cerebrotendinous xanthomatosis.  Their number and size correlate to some degree with the cholesterol level and the patent's age.  They usually cause no pain and do not increase the likelihood of tendon tears.
MRI  and sonography  are well suited to the evaluation of tendons and soft-tissue masses. MRI characteristically shows reticulated or speckled signal pattern on T1 and T2-weighted images. The normal tendon fibers are seen as low signal intensity strands. MR can detect changes before the clinical enlargement of tendons. Clinico-radiologocal correlation can further settle the MR diagnostic overlap with trauma, tendinosis/tendinopathy, and partial tendon tears. The tendons on sonography can appear as normal or, more commonly enlarged. They demonstrate the loss of normal fibrillar architecture and either focal or diffuse hypoechogenicities within the tendon compatible with Xanthomas.
Medical treatment is often delayed due to underdiagnosis. It is primarily with the use of pharmacological agents like bile resins, niacin, and statins , used alone or in combination along with the dietary measures.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4]