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Nakajo-Nishimura Syndrome: The First African Case
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, club...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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The Mediterranean Journal of Rheumatology (MJR)
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10466351/ https://www.ncbi.nlm.nih.gov/pubmed/37654638 http://dx.doi.org/10.31138/mjr.34.2.262 |
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author | Ghodbane, Nacif Eddine Mecibah, Ali Merzougui, Zohra Zerguine, Halima Akakba, Zineb Slimani, Samy |
author_facet | Ghodbane, Nacif Eddine Mecibah, Ali Merzougui, Zohra Zerguine, Halima Akakba, Zineb Slimani, Samy |
author_sort | Ghodbane, Nacif Eddine |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-10466351 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | The Mediterranean Journal of Rheumatology (MJR) |
record_format | MEDLINE/PubMed |
spelling | pubmed-104663512023-08-31 Nakajo-Nishimura Syndrome: The First African Case Ghodbane, Nacif Eddine Mecibah, Ali Merzougui, Zohra Zerguine, Halima Akakba, Zineb Slimani, Samy Mediterr J Rheumatol Case Report 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. The Mediterranean Journal of Rheumatology (MJR) 2023-06-30 /pmc/articles/PMC10466351/ /pubmed/37654638 http://dx.doi.org/10.31138/mjr.34.2.262 Text en © 2023 The Mediterranean Journal of Rheumatology (MJR) https://creativecommons.org/licenses/by/4.0/This work is licensed under and Creative Commons Attribution-NonCommercial 4.0 International License. |
spellingShingle | Case Report Ghodbane, Nacif Eddine Mecibah, Ali Merzougui, Zohra Zerguine, Halima Akakba, Zineb Slimani, Samy Nakajo-Nishimura Syndrome: The First African Case |
title | Nakajo-Nishimura Syndrome: The First African Case |
title_full | Nakajo-Nishimura Syndrome: The First African Case |
title_fullStr | Nakajo-Nishimura Syndrome: The First African Case |
title_full_unstemmed | Nakajo-Nishimura Syndrome: The First African Case |
title_short | Nakajo-Nishimura Syndrome: The First African Case |
title_sort | nakajo-nishimura syndrome: the first african case |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10466351/ https://www.ncbi.nlm.nih.gov/pubmed/37654638 http://dx.doi.org/10.31138/mjr.34.2.262 |
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