Tumid lupus erythematosus and systemic lupus erythematosus: a rare coexistence

Abstract

A patient diagnosed with tumid lupus erythematosus (TLE) was subsequently found to have systemic lupus erythematosus (SLE) after presenting to a tertiary care medical centre with shortness of breath and oedema. In this commentary, we discuss this patient’s presentation and the association between TLE and SLE.

Background

Tumid lupus erythematosus (TLE) is a rare variant of chronic cutaneous lupus erythematosus. Although TLE was first described by Erich Hoffman in 1909, there has been a paucity of cases cited in medical literature, with epidemiology and pathophysiology remaining unclear.^{1 2} This obscurity can be attributed to the lack of uniform diagnostic criteria involving clinical, histological and immunohistochemical findings until 2003.³ Furthermore, continued controversy regarding the diagnosis and classification of TLE, difficulty in distinguishing TLE from other cutaneous disorders (eg, pseudolymphoma), and lack of specific International Classification of Diseases code all hinder better understanding of TLE.¹

TLE is noted to very rarely be associated with systemic lupus erythematosus (SLE).¹ Given the morbidity and mortality associated with SLE, it is important for clinicians to recognise the association when managing patients with TLE. We present the case of a patient initially diagnosed with TLE who was later found to have SLE.

Case presentation

A young woman of Burmese descent with history of hypothyroidism due to Hashimoto’s thyroiditis as well as biopsy-proven TLE presented to the emergency department at a large tertiary care medical centre with persistent cough, shortness of breath and lower extremity oedema. Shortly before presentation, the patient had seen her primary care provider for cough, for which she received azithromycin and amoxicillin for presumed pneumonia. The patient reported no improvement with this treatment and instead developed increasing dyspnoea, orthopnoea and difficulty with ambulation. On physical examination, the patient had jugular venous distention, cervical lymphadenopathy, diminished bibasilar breath sounds and trace bilateral ankle oedema. Smooth, non-scarring pink-brown plaques along the postauricular scalp line consistent with previously diagnosed tumid lupus (figure 1) were also noted.

Figure 1.

Physical examination findings of smooth, non-scarring pink-brown plaques along the postauricular scalp line consistent with previously diagnosed tumid lupus.

Investigations

Workup revealed pancytopenia with positive direct antiglobulin test and elevated brain natriuretic peptide. Rheumatological workup revealed elevated antinuclear antibody (ANA) titres (1:2560 in a homogeneous pattern), positive antibodies to double-stranded DNA and ribonucleoprotein, elevated erythrocyte sedimentation rate and low complement levels. C reactive protein and HIV testing were negative. Prior punch skin biopsy of parietal scalp from an outside facility showed increased dermal mucin with a perivascular infiltrate typical of tumid lupus.

CT imaging of the neck and chest showed pericardial effusion, bilateral pleural effusions, pulmonary oedema and cervical, axillary and mediastinal lymphadenopathy (figure 2). Cervical lymph node biopsy demonstrated reactive follicular and paracortical hyperplasia, as seen in SLE. A transthoracic echocardiogram revealed a pericardial effusion with normal left and right ventricular systolic function with ejection fraction of 60%–65%; however, there was significant right ventricular dilatation with elevated estimated pulmonary artery systolic pressures. A right heart cardiac catheterisation confirmed precapillary pulmonary hypertension suggestive of pulmonary artery hypertension (PAH).

Figure 2.

CT imaging demonstrating cervical lymphadenopathy.

Differential diagnosis

Based on the patient’s initial presentation, the treatment team had concern for a respiratory infection. However, CT chest imaging was not consistent with a pneumonia and the patient had not had improvement in symptoms after a course of outpatient antibiotic therapy. Given the lower extremity oedema on presentation and pulmonary oedema noted on imaging, a new diagnosis of heart failure was considered. Subsequent transthoracic echocardiogram demonstrated no evidence of left or right-sided heart failure. Given extensive lymphadenopathy found on imaging and constellation of symptoms, a diagnosis of lymphoma was considered but was ruled out with lymph node biopsy. Given patient’s history of Hashimoto’s thyroiditis and recent diagnosis of TLE, autoimmune workup was pursued with SLE, mixed connective tissue disease and undifferentiated connective-tissue disease at the top of the differential.

Treatment

The patient was diagnosed with SLE complicated by pancytopenia, pleural and pericardial effusions, WHO group 1 PAH and lymphadenopathy. The patient was discharged on hydroxychloroquine and a prednisone taper.

Outcome and follow-up

The patient followed with rheumatology, dermatology and pulmonary medicine in the outpatient setting. She was started on ambrisentan and tadalafil for PAH. After prednisone taper was completed, the patient was transitioned to hydroxychloroquine and azathioprine for maintenance. She remains clinically quiesced on these therapies.

Discussion

TLE is a highly photosensitive condition that typically manifests on sun-exposed areas as smooth, indurated, pink to violaceous papules, plaques or nodules without surface changes such as plugging, atrophy or scaling.² On histology, TLE is characterised by superficial and deep perivascular and periadnexal lymphocytic infiltrate. There is mucin deposition throughout the dermis, and absent or focal dermal-epidermal junction involvement.^{1 2} The course is often chronic and intermittent, with mean lesion duration of 2 years.^{1 2} Unlike other forms of cutaneous lupus, TLE does not cause residual surface changes, such as scarring or hypopigmentation/hyperpigmentation.^{1 2} In addition, TLE has been infrequently associated with positive ANA titres, extractable nuclear antigen antibodies (eg, anti-smith, anti-Ro), as well as a diagnosis of SLE, as demonstrated in this case.^4–6 This case builds on other recent reports showcasing TLE comorbid with SLE.^{7 8}

The association between TLE and SLE has important implications on the management of patients with TLE. TLE has a relatively benign clinical course and prognosis; however, SLE, which can involve numerous organ systems, confers a threefold increase in mortality rate compared with the age-matched general population.^{1 9} Furthermore, SLE can inflict significant morbidity, diminishing quality of life and imposing substantial physical, mental, emotional and financial burdens.^{9 10} Patients with TLE and other additional risk factors for SLE development—African Americans, women between 15 and 55, another autoimmune disease, SLE in a first-degree family member—may greatly benefit from advanced SLE screening, such as complete blood count, urinalysis and ANA and other nuclear antigen antibodies testing.¹¹ Therefore, knowledge about the TLE–SLE association can facilitate earlier detection and treatment of SLE with coordination of care within a multidisciplinary team of primary care providers, rheumatologists, dermatologists and pharmacists leading to better health outcomes.¹²

Learning points.

• Tumid lupus erythematosus (TLE) is a rare variant of chronic cutaneous lupus erythematosus rarely associated with systemic lupus erythematosus (SLE).

• Patients with TLE and risk factors for SLE development (African-American, women age 15–55, other coexisting autoimmune disease, SLE in a first-degree family member) can benefit from SLE screening given the high morbidity associated with SLE.

• The association of TLE with SLE may help earlier detect, better manage and potentially prevent morbidity and mortality related to concomitant to SLE, thereby leading to better health outcomes.

• Consideration of SLE screening in high-risk patients with TLE may be warranted.

Ethics statements

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