Volume 34, Issue 3, September 2023

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Mediterr J Rheumatol 2023;34(2):262-5
Nakajo-Nishimura Syndrome: The First African Case
Authors Information

1Department of Otorhinolaryngology Head and Neck Surgery EPH Houas Salah ORL Clinic, Benboulaid Batna, Algeria

2Department of Pediatrics CHU Benflis Touhami, allées Mohamed boudiaf, Batna, Algeria

3Department of Cardiology CHU Mustapha Pacha, Algiers, Algeria

4Rheumatology Clinic, Batna, Algeria

NE Ghodbane


Nakajo-Nishimura syndrome is a hereditary autoinflammatory disorder caused by an autosomal recessive homozygous mutation of the PSMB8 gene, which encodes the immunoproteasome subunit beta 5i. The clinical manifestations of NNS are mainly pernio-like skin rashes, nodular erythema, lipodystrophy, clubbed fingers, remittent fever, hepatosplenomegaly, and basal ganglia calcifications. Here we are reporting a case of NNS in an 11-year-old girl, who lives in eastern Algeria, born from a first-degree consanguineous marriage, she presented with erythematous patches on her face and her back, nodular erythema on her neck, swollen and painful fingers with acrocyanosis and recurrent fever that mainly occurred in cold weather. The patient received long-term treatment with low-dose glucocorticoids, along with immunomodulatory drugs (hydroxychloroquine with methotrexate), partial improvement clinically and biologically was observed. Colchicine was added to her treatment, with increased prednisone doses when she recently developed an AA amyloidosis. Our patient was diagnosed clinically with a probable NNS because she exhibited six of the eight characteristics. To the best of our knowledge, this is the first case of NNS in Africa.

Cite this article as: Ghodbane NE, Mecibah A, Merzougui Z, Zerguine H, Akakba Z, Slimani S. Nakajo-Nishimura Syndrome: The First African Case. Mediterr J Rheumatol 2023;34(2):262-5.

Article Submitted: 31 May 2022; Revised Form: 29 Aug 2022; Article Accepted: 03 Sep 2022; Available Online: 30 Jun 2023


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