Nakajo syndrome

Common Name(s)

Nakajo syndrome

This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by {1:Agarwal et al., 2010}; {4:Kitamura et al., 2011}; {2:Arima et al., 2011}). This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both {7:Nakajo (1939)} and {8:Nishimura et al. (1950)} contributed to the original phenotypic descriptions.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Nakajo syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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Scientific Literature

Articles from the PubMed Database

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The terms "Nakajo syndrome" returned 1 free, full-text research articles on human participants. First 3 results:

Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome.
 

Author(s): Kazuhiko Arima, Akira Kinoshita, Hiroyuki Mishima, Nobuo Kanazawa, Takeumi Kaneko, Tsunehiro Mizushima, Kunihiro Ichinose, Hideki Nakamura, Akira Tsujino, Atsushi Kawakami, Masahiro Matsunaka, Shimpei Kasagi, Seiji Kawano, Shunichi Kumagai, Koichiro Ohmura, Tsuneyo Mimori, Makito Hirano, Satoshi Ueno, Keiko Tanaka, Masami Tanaka, Itaru Toyoshima, Hirotoshi Sugino, Akio Yamakawa, Keiji Tanaka, Norio Niikawa, Fukumi Furukawa, Shigeo Murata, Katsumi Eguchi, Hiroaki Ida, Koh-Ichiro Yoshiura

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2011 Sep;108(36):14914-9.

 

Nakajo-Nishimura syndrome (NNS) is a disorder that segregates in an autosomal recessive fashion. Symptoms include periodic fever, skin rash, partial lipomuscular atrophy, and joint contracture. Here, we report a mutation in the human proteasome subunit beta type 8 gene (PSMB8) that ...

Last Updated: 7 Sep 2011

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Reviews from the PubMed Database

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The terms "Nakajo syndrome" returned 2 free, full-text review articles on human participants. First 3 results:

Nakajo-Nishimura syndrome: an autoinflammatory disorder showing pernio-like rashes and progressive partial lipodystrophy.
 

Author(s): Nobuo Kanazawa

Journal: Allergol Int. 2012 Jun;61(2):197-206.

 

Nakajo-Nishimura syndrome (ORPHA2615; also registered as Nakajo syndrome in OMIM#256040) is a distinct inherited inflammatory and wasting disease, originally reported from Japan. This disease usually begins in early infancy with a pernio-like rash, especially in winter. The patients ...

Last Updated: 28 May 2012

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[Nakajo-Nishimura syndrome].
 

Author(s): Nobuo Kanazawa, Kazuhiko Arima, Hiroaki Ida, Koh-ichiro Yoshiura, Fukumi Furukawa

Journal: Nihon Rinsho Meneki Gakkai Kaishi. 2011 ;34(5):388-400.

 

Nakajo-Nishimura syndrome (NNS) (MIM256040, ORPHA2615) is a distinct inherited inflammatory and wasting disease, which usually begins in early infancy with a pernio-like rash. The patients develop periodic high fever and nodular erythema-like eruptions, and gradually progress lipomuscular ...

Last Updated: 1 Nov 2011

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