A Rare Case of Sarcoidosis Presenting as an Isolated Breast Mass and Pain: A Case Report and Literature Review

Background

Sarcoidosis is a rare condition first described by Besnier et al in the year 1889 [1]. It is a non-caseating granulomatous disease of unknown origin and affects multiple systems in the body, mainly affecting the lungs, and occurs more frequently in young women age 25–40 years. The condition has a broad range of prevalence of 5–40 cases per 10 000 population, depending on the specific region [2]. Patients diagnosed with sarcoidosis usually present with constitutional symptoms such as fatigue, fever, and weight loss, and respiratory symptoms, with dyspnea being the commonest [3]. Nevertheless, it is important to note that although sarcoidosis usually presents with various symptoms, many cases are asymptomatic, and most patients undergo spontaneous remission with no interventions [4]. This condition is histologically characterized by the accumulation of non-caseating granulomas in various organs, most commonly the lungs and lymph nodes, which lead to inflammation and organ damage [5].

Cases in which the disease manifestations do not involve the common organs can be difficult to identify and delay the patient’s diagnosis, posing a potential challenge [6]. In less than 1% of patients, sarcoidosis only presents as an isolated peculiar mass on the breast, with very few cases worldwide being reported in the literature [7,8]. Therefore, although rare, a breast mass identified in patients should include sarcoidosis as one of its differentials, including common etiologies such as breast cancer, to ensure early detection and provide a better prognosis. Here, we report a very rare case of primary sarcoidosis diagnosed only by an isolated presentation of breast symptomatology and a single mass in the breast tissue.

Case Report

Informed and written consent was obtained from the patient. A 27-year-old woman presented to the breast surgery clinic due to pain and swelling in the left breast for a duration of more than 6 months. A month after the initial symptoms, she noticed similar swelling in the right breast, as well as a rash on her right thigh. Initially, an ultrasound was performed, which revealed a suspected abscess and she was treated with antibiotics at a different institution, but she subsequently had increased swelling and pain. She denied any trauma of the breast, nipple discharge, recent fever, or loss of weight. She had a family history of breast cancer in her paternal aunt at 36 years of age.

On examination, the left breast revealed multiple firm-hard masses that were tender on palpation. The masses were felt at 5, 11, and 8 o’clock. They were immobile, with no overlying inflammation or pea d’orange. No masses were noted on the right breast on the physical examination.

As part of the investigation, a breast ultrasound (Figure 1) was done in our institution and showed large loculated focally dilated ducts with lobulated collections predominantly noted in the upper outer quadrants of the left breast, with significant periductal vascularity and inflammation. The masses measured 2.18 cm by 0.93 cm. A CT scan (Figures 2, 3) illustrated multiple well-defined enhancing outlines, consistent with breast granulomatous disease. Smaller collections were noted in the right breast parenchyma and larger collections on the left side. Subsequently, a fine-needle aspiration (FNA) of the left breast was performed, which showed an inflammatory process with granulomatous formation, non-caseating.

An ultrasound-guided core biopsy was done of the left breast, and histological examination of the obtained material revealed multiple epithelioid cell non-caseating granulomas, including few multinucleated giant cells (Figures 4, 5). Subsequently, blood testing revealed elevated ACE levels of 76.37 U/L (20–70 U/L). Following discussion among the breast and rheumatologist clinical team, sarcoidosis was a possible explanation after other granulomatous conditions were clinically excluded. Thus, the patient was referred to the rheumatology clinic. A chest X-ray revealed no obvious signs of pulmonary sarcoidosis or any other focal lesions, and a CT scan was done of the abdominal and pelvic structures, which were unremarkable. The patient was considered a rare case of sarcoidosis initially presenting in the breast. She was started on IV steroids followed by oral prednisolone at 0.5 mg/kg/kbw and azathioprine as a steroid-sparring drug. The mass lesion significantly decreased in size by 75% on clinical examination following the use of steroids, and her pain substantially improved. The patient remains stable, with regular follow-ups with the rheumatologist.

Discussion

This is a case of breast sarcoidosis that presented solely as a painful and swollen mass in the left breast of a woman with a positive family history of early-onset breast cancer. This was confirmed through FNA findings (granulomatous mastitis) and elevated ACE levels.

Sarcoidosis is a systemic condition that can present in many ways. Commonly, the detection of sarcoidosis is incidental, and the condition is diagnosed through a work-up for other causes, namely through chest X-rays and the visualization of enlarged bilateral hilar lymphadenopathy [4]. On the other hand, sarcoidosis can be a life-threatening illness that greatly affects a patient’s quality of life. Typically, if symptomatic, sarcoidosis presents with pulmonary symptoms such as cough, dyspnea, and chest pain, in addition to constitutional symptoms such as fatigue, fever, and weight loss. However, studies have shown that around 30% of cases manifest extrapulmonary sites [9]. The most common locations for extrapulmonary disease manifestation include the skin, lymph nodes, eyes, and liver. Less commonly, in around 1% of cases, sarcoidosis presents with a breast mass as the only finding [10]; even then, the manifestation of sarcoidosis in such extrapulmonary sites usually follows involvement of the lungs, and thus it is quite rare for a primary manifestation of a sarcoid lesion to be isolated in the breast.

The patient described in this report presented with breast sarcoidosis, which is a rare entity, and the literature available is only of sporadic cases. History-taking and examination followed by diagnostic testing (radiography and tissue sampling) are vital components when diagnosing a breast mass [11]. On imaging, breast sarcoidosis commonly manifests as an irregular and/or spiculated mass on mammography, and as an irregular hypoechoic mass on ultrasound [12]. Moreover, axillary lymph nodes could also be involved, but in our case, diagnostic testing showed no involvement. In the literature, only 35 cases were identified between the years 1921 and 1997 that histo-logically proved the existence of sarcoidosis in the breast [13]. Sarcoidosis in these patients presented mostly as a self-detected breast mass mimicking breast cancer. Seven patients were evaluated by mammography, and only 1 patient demonstrated changes suspicious of malignancy. FNA was only used in 4 cases, with the results of 2 being compatible with sarcoidosis and 2 requiring excisional biopsies due to inconclusive results [13]. Sarcoidosis should always be considered in the differential diagnosis of breast masses, even in patients without clinical evidence of systemic sarcoidosis. These patients should also undergo a tissue biopsy to rule out malignancy because clinical findings, mammography, and ultrasound results can be inaccurate.

Clinically, breast sarcoidosis can present with a painful breast mass. Less common symptoms include nipple inversion and axillary lymphadenopathy. Mammographically, breast sarcoidosis can present as a spiculated, ill-defined, or well-defined mass. On ultrasound, it usually presents as a hypoechoic mass [12]. The clinical picture and radiological variability make it difficult to differentiate between granulomatous mastitis and breast cancer, highlighting the importance of histopathological examination in accurate diagnosis. Furthermore, cases identified in the literature involve patients with breast cancer that were found to have pulmonary lesions on imaging and were thought to be metastatic diseases to the lungs, but after extensive investigations, sarcoidosis was confirmed to be the cause of the pulmonary lesions. Therefore, breast sarcoidosis should always be considered in the differentials for a woman presenting with a breast lump. Regarding the association between sarcoidosis and the risk of malignancy, studies are inconclusive, but it is typically thought that patients with breast sarcoidosis are not at increased risk of developing breast cancer [14]. Management of patients with breast sarcoidosis typically does not differ between pulmonary and extrapulmonary sarcoidosis, and glucocorticoids remain the treatment of choice in both presentations [15]. However, given the rarity of breast sarcoidosis, especially as an initial or sole presentation, more studies need to be done to define the best mode of therapy. Although there are differences in the prognosis due to many factors such as the extent of the disease and the presence of complications, patients with breast sarcoidosis tend to have a favorable prognosis following appropriate treatment. Most such patients have major improvement or complete resolution of symptoms [16]. In our case, the patient was started on IV steroids followed by oral prednisolone and azathioprine. The mass decreased in size as the treatment ensued and the pain improved substantially. She then remained stable and had regular follow-ups with the breast surgeon and the rheumatologist. The progression of disease from breast sarcoidosis to systemic sarcoidosis involving the lungs is still unknown, and the use of strong drugs early on risks development of severe adverse effects and remains controversial.

Conclusions

The presentation of primary sarcoidosis of the breast is quite rare, especially as the initial clinical manifestation in the disease course. However, it is very important to consider breast sarcoidosis in the differentials of patients presenting with an unexplained breast mass and signs.