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Mediterranean fever gene mutations in patients with possible neuro-Sweet disease: a case series
  1. Hidehiro Ishikawa1,
  2. Akihiro Shindo1,
  3. Yuichiro Ii1,
  4. Atsushi Niwa1,
  5. Keita Matsuura1,
  6. Dai Kishida2,
  7. Hidekazu Tomimoto1
  1. 1 Department of Neurology, Mie University Graduate School of Medicine, Tsu, Japan
  2. 2 Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Nagano, Japan
  1. Correspondence to Dr Hidehiro Ishikawa, Department of Neurology, Mie University Graduate School of Medicine, Tsu, Mie514-8507, Japan; hidehiro-i{at}

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Neuro-Sweet disease (NSD) is defined as Sweet disease with central nervous system (CNS) involvement. Also known as acute febrile neutrophilic dermatosis, NSD is characterised by painful erythematous plaques and multisystem neutrophilic infiltration.1

Familial Mediterranean fever (FMF), characterised by recurrent fever and serositis, is caused by mutations of the Mediterranean fever (MEFV) gene. FMF is rarely reported in patients with Sweet’s syndrome.2 In this report, we discuss three cases of possible NSD. Our findings indicate that some mutations in the MEFV gene may act as additional susceptibility factors in autoimmune inflammatory neurological diseases, including NSD.

Patients and methods

We conducted MEFV mutation analyses on genomic DNA samples from three patients diagnosed with possible NSD between 1 April 2014 and 31 October 2016. Patients were diagnosed with NSD in accordance with previously described criteria.1 In all patients, infection, malignancy and other autoimmune diseases were clinically excluded. All patients provided written informed consent to participate in this study. MEFV gene analyses were performed via PCR (see online supplementary file 1).

Supplementary file 1


Patient 1

A 62-year-old man presented with headache and difficulty understanding spoken language in June 2014, following which he experienced a generalised seizure and was transferred to our hospital. Dark-red, mottled erythema was observed on the surface of his skin. High levels of protein and interleukin (IL)-6 were observed in the cerebrospinal fluid (CSF). MRI revealed a tumefactive lesion in the left temporo-occipital region on T1, gadolinium-enhanced, fluid-attenuated inversion recovery (FLAIR) sequences (figure 1A,B). Brain biopsy of the lesion demonstrated perivascular inflammation (figure 1C), while skin biopsy revealed mild …

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  • Contributors HI contributed to the interpretation of findings, wrote the initial draft of the report, and revised and edited the manuscript. YI, AN and KM were involved in treatment planning, and revised and edited the manuscript. DK was involved in MEFV gene analysis and edited the manuscript. AS and HT were involved in treatment planning, and contributed to interpretation of the findings and critical revision of the manuscript.

  • Competing interests None declared.

  • Ethics approval The study was approved by the Ethics Committee of Mie University Hospital (approval number 1756).

  • Provenance and peer review Not commissioned; externally peer reviewed.