Acta Dermato-Venereologica 99-9CompleteContent

822 SHORT COMMUNICATION Systemic Lupus Erythematosus with Familial Mediterranean Fever: Case Report and Review of Literature Hiraku KOKUBU 1 , Hiroaki IDA 2 , Toshihiro TANAKA 1 and Noriki FUJIMOTO 1 * Department of Dermatology, Shiga University of Medical Science, Setatsukinowa, Otsu, Shiga 520-2192, and 2 Division of Respirology, Neurology, and Rheumatology, Department of Medicine, Kurume University School of Medicine, Kurume, Fukuoka, Japan. *E-mail: noriki@ belle.shiga-med.ac.jp 1 Accepted Apr 16, 2019; E-published Apr 16, 2019 Systemic lupus erythematosus (SLE) is a systemic autoim mune inflammatory disease characterized by antibody production against cellular nuclear elements (1). On the other hand, familial Mediterranean fever (FMF) is an auto- inflammatory disorder, triggered by FMF-associated point mutations. Recurrent high fever, generally above 38°C for several days, is the most important symptom of FMF accompanied by peritonitis, pleuritis, and arthritis without deformity. Although colchicine is effective, corticoste roids are not useful for symptom control (2). Fever, joint pain, plaques, and pleurisy are common manifestations of both of these diseases. Here, we present a rare case of SLE with FMF and a literature review. CASE REPORT A 64-year-old Japanese man noticed joint pain in his shoulders, elbows, and knees. He has frequently presented with fever over 38°C and indurated erythema for several days about once a month since 2012. He has never experienced the same symptoms before, and his family demonstrated no similar symptoms. His local der matologist diagnosed him with Sweet’s syndrome from clinical and histopathological features, and treated him with 5 to 20 mg a day of oral corticosteroids. However, due to the recurrence of symptoms he was referred to our hospital in 2013. Physical examination re vealed persistent malar erythema and transient indurated erythema on the upper extremities and trunk (Fig. 1A). He had non-erosive arthritis on shoulders, elbows, and knees. He did not present with swollen fingers, alopecia, lymphadenopathy, or oral ulcers. On the first visit, the results of blood tests showed elevated levels of white blood cell counts (9,000/µl), serum C-reactive protein (2.46 mg/ dl), IgG (1,910 mg/dl), and erythrocyte sedimentation rate (45.4 mm/h), but a decreased level of lymphocytes (927/µl). Serum le vels of creatinine, creatine kinase and aldolase were within normal limits. Urine examination showed no abnormalities. Anti-nuclear antibody had a speckled pattern and the level was more than 2,560 times. Anti-U1 RNP antibody level was more than 300 U/ml. Au toantibodies against double stranded DNA, smith, SS-A, SS-B, and cyclic citrullinated peptide were not detected. A cutaneous biopsy specimen from the erythema on his buttock showed perivascular and lobular infiltration of lymphocytes and neutrophils in the dermis and subcutaneous tissue (Fig. 1B). Vacuolar changes in the basal layer and perifollicular inflammation were not observed (Fig. 1C). Direct immunofluorescence showed no deposits of complement and immunoglobulin. Computed tomography revealed mild interstitial pneumonia, which we treated with low dose oral corticosteroids. We initially diagnosed this case as SLE because of malar erythema, non- erosive arthritis, lymphopenia and positive antinuclear antibody, based on the criteria (1), and denied mixed connective tissue disease due to the absence of swollen fingers and myositis. We added tacro limus, since antimalarial drugs were not available in Japan. After a short while, he complained of precordial pains, due to pleurisy. We performed a mutational analysis of the familial Mediterranean fever gene (MEFV), which showed heterozygous mutations in exon 3; p.Arg408Gln and p.Pro369Ser. We suspected an atypical FMF and additionally administered 0.5 mg dose of colchicine. His precordial pains and fever improved even after the discontinuation of tacrolimus, and we were able to reduce the dosage of cortico steroids. We finally diagnosed the case as SLE with atypical FMF. When the dosage of colchicine increased, he got moderate liver damage. We continued with 0.5 mg dose of colchicine. We could not increase the dosage of colchicine above 10 mg a day due to liver dysfunction. Corticosteroids could not be decreased to less than 7 mg a day because of interstitial pneumonia. Thereafter, he has not complained of repeated fever and precordial pains. DISCUSSION We considered this case as a combination of SLE and FMF for several reasons. Firstly, there are no reports of SLE pa tients having the MEFV gene mutations on exon 3 contrary to exon 10 or exon 2 (3). Secondly, his symptoms improved with colchicine. Third reason is that the positivity of anti- U1 RNP antibody does not occur in FMF patients. Lastly, interstitial pneumonia does not likely occur in FMF patients. Differential diagnoses of the indurated erythema include cutaneous lupus erythematosus, Sweet’s syndrome, and neutrophil dermatosis. The typical skin lesion of FMF is a well-defined erythematous plaque like erysipelas. Sweet’s syndrome-like eruption has also been reported. Common histological features include slight edema of the superfi cial dermis and sparse perivascular infiltrate composed of lymphocytes, neutrophils, and histiocytes (4). In our Fig. 1. (A). Clinical presentation on the first visit. Indurated erythemas were observed on upper extremities and trunk. (B). Histopathological examination showed superficial and perivascular infiltration of lympho cytes throughout the dermis and subcutaneous tissue (hema toxylin- eosin (H-E) staining, x40). (C) Vacuolar changes in the basal layer and perifollicular inflammation were not observed (H-E x200). doi: 10.2340/00015555-3197 Acta Derm Venereol 2019; 99: 822–823 This is an open access article under the CC BY-NC license. www.medicaljournals.se/acta Journal Compilation © 2019 Acta Dermato-Venereologica.

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