Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Ghodbane, Nacif Eddine, Mecibah, Ali, Merzougui, Zohra, Zerguine, Halima, Akakba, Zineb, Slimani, Samy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Mediterranean Journal of Rheumatology (MJR) 2023
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
_version_ 1785098863567175680
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
work_keys_str_mv AT ghodbanenacifeddine nakajonishimurasyndromethefirstafricancase
AT mecibahali nakajonishimurasyndromethefirstafricancase
AT merzouguizohra nakajonishimurasyndromethefirstafricancase
AT zerguinehalima nakajonishimurasyndromethefirstafricancase
AT akakbazineb nakajonishimurasyndromethefirstafricancase
AT slimanisamy nakajonishimurasyndromethefirstafricancase