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

Allergology International

Volumn 61, Issue 2, 2012, Pages 197-206

  Kanazawa, Nobuo ^a  

^a WAKAYAMA MEDICAL UNIVERSITY   (Japan)

Author keywords

Immunoproteasome; Nakajo Nishimura syndrome; Partial lipodystrophy; Pernio; PSMB8

Indexed keywords

ADALIMUMAB; AZATHIOPRINE; CYCLOSPORIN; ETANERCEPT; GAMMA INTERFERON INDUCIBLE PROTEIN 10; HYDROXYCHLOROQUINE; INFLIXIMAB; INTERLEUKIN 1BETA; INTERLEUKIN 6; METHOTREXATE; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; RITUXIMAB; TACROLIMUS; TOCILIZUMAB; TUMOR NECROSIS FACTOR ALPHA;

ANEMIA; ARTICLE; AUTOINFLAMMATORY DISEASE; CELL INFILTRATION; CELL PROLIFERATION; CLINICAL FEATURE; CYTOMEGALOVIRUS INFECTION; DIFFERENTIAL DIAGNOSIS; ERYTHROCYTE SEDIMENTATION RATE; EXON; GENE MUTATION; GENETIC IDENTIFICATION; HISTOPATHOLOGY; HUMAN; IMMUNOSUPPRESSIVE TREATMENT; LABORATORY DIAGNOSIS; LIPODYSTROPHY; NAKAJO NISHIMURA SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; POSITRON EMISSION TOMOGRAPHY; PRIORITY JOURNAL; PROGNOSIS; RASH; SCINTIGRAPHY; SEX RATIO; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84862677492     PISSN: 13238930     EISSN: 14401592     Source Type: Journal    
DOI: 10.2332/allergolint.11-RAI-0416     Document Type: Review

References (32)

1. Nakajo A. [Secondary hypertrophic osteoperiostosis with pernio]. [Jap J Dermatol Urol] 1939;45:77-86(in Japanese).
2. Nishimura N, Deki T, Kato S. [Hypertrophic pulmonary osteo-arthropathy with pernio-like eruptions in the two families (Report of the three cases)]. [Jap J Dermatol Venereol] 1950;60:136-41(in Japanese).
3. Kitano Y, Matsunaga E, Morimoto T, Okada N, Sano S. A syndrome with nodular erythema, elongated and thickened fingers, and emaciation. Arch Dermatol 1985;121: 1053-6.
4. Horiuchi A, Yamaguchi M, Sawada S, Amaki I. [A case of a 31-year-old female with skin eruption, muscular atrophy, splenomegaly, hyper s-globulinemia and decreased IgA]. [Clin Immunol] 1971;3:362-9(in Japanese).
5. Horikoshi A, Iwabuchi S, Iizuka Y, Hagiwara T, Amaki I. [A case of partial lipodystrophy with erythema, dactylic deformities, calcification of the basal ganglia, immunological disorders and low IQ level]. [Clin Neurol] 1980; 20:173-80(in Japanese).
6. Endo Y, Miura A. [A case of progressive (partial) lipodystrophy]. [J Jap Soc Int Med] 1980;69:20-6(in Japanese).
7. Yamada S, Toyoshima I, Mori S, Tsubaki T. [Sibling cases with lipodystrophic skin change, muscular atrophy, recurrent skin eruptions, and deformities and contractures of the joints-A possible new clinical entity-]. [Clin Neurol] 1984;24:703-10(in Japanese).
8. Tanaka M, Tanaka H, Miyatake T. [A new entity of lipodystrophy-Hereditary lipo-muscular atrophy with joint contracture, skin eruptions and hyper-j-globulinemia-]. [Jap Med J] 1991;3495:32-4(in Japanese).
9. Tanaka M, Miyatani N, Yamada S et al. Hereditary lipomuscular atrophy with joint contracture, skin eruptions and hyper-gamma-globulinemia: a new syndrome. Intern Med 1993;32:42-5.
10. Wakiguchi H, Wakiguchi A, Morita H et al. [A case of lupus erythematosus profundus with various immunological abnormalities]. [Jap J Pediatr] 1984;37:1831-6(in Japanese).
11. Hayashi Y, Shiraishi T, Tani J, Nomura I, Wakiguchi H, Kurashige T. [A case of hereditary inflammation disorder with calcification of basal ganglia similar to lipodystrophy-A clinical immunological study-]. [J Pediatric Practice] 1989;52:561-5(in Japanese).
12. Sugino H, Koike M, Tsukino R, Kibira S, Mitani I, Kodama T. [4 child cases of a hereditary disease showing partial lipodystrophy-like appearance, pernio-like eruptions, long clubbed fingers, basal ganglia calcification and positive inflammatory reactions, possibly a new clinical entity] [abstract]. [J Jap Pediatr Soc] 1986;90:727(in Japanese).
13. Sugino H, Nitta Y, Higuchi R, Iizuka T, Koike M. [Familial Japanese fever: a hereditary fever syndrome showing partial lipodystrophy-like appearance, pernio-like eruptions, long clubbed fingers, joint contractures and basal ganglia calcification] [abstract]. [J Jap Pediatr Assoc] 2006;32:106(in Japanese).
14. Arima K, Kinoshita A, Mishima H et al. Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome. Proc Natl Acad Sci U S A 2011;108:14914-9.
15. Kitamura A, Maekawa Y, Uehara H et al. A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans. J Clin Invest 2011;121:4150-60.
16. Garg A, Hernandez MD, Sousa AB et al. An autosomal recessive syndrome of joint contracture, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy. J Clin EndcrinolMetab 2010;95:E58-63.
17. Torrelo A, Patel S, Colmenero I et al. Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome. J Am Acad Dermatol 2010;62:489-95.
18. Agarwal AK, Xing C, DeMartino GN et al. PSMB8 encoding the t5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome. Am J Hum Genet 2010;87:866-72.
19. Liu Y, Ramot Y, Torrelo A et al. Mutations in PSMB8 cause CANDLE syndrome with evidence of genetic and phenotypic heterogeneity. Arthritis Rheum. Epub 2011 Sep 27.
20. Kanazawa N, Arima K, Ida H, Yoshiura KI, Furukawa F. [Nakajo-Nishimura syndrome]. [Jpn J Clin Immunol] 2011;34:388-400(in Japanese).
21. Kasagi S, Kawano S, Nakazawa T et al. A case of periodicfever-syndrome-like disorder with lipodystrophy, myositis, and autoimmune abnormalities. Mod Rheumatol 2008; 18:203-7.
22. Oyanagi K, Sasaki K, Ohama E et al. An autopsy case of a syndrome with muscular atrophy, decreased subcutaneous fat, skin eruption and hyper g-gulobulinemia: peculiar vascular changes and musclenfiber degeneration. Acta Neuropathol (Berl) 1987;73:313-9.
23. Fiorenza CG, Chou SH, Mantzoros CS. Lipodystrophy: pathophysiology and advances in treatment. Nat Rev Endocrinol 2011;7:137-50.
24. Misra A, Peethambaram A, Garg A. Clinical features and metabolic and autoimmune derangements in acquired partial lipodystrophy: report of 35 cases and review of the literature. Medicine (Baltimore) 2004;83:18-34.
25. Crow YJ, Rehwinkel J. Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity. Hum Mol Genet 2009;18:R130-6.
26. Neven B, Prieur AM, Quartier dit Maire P. Cryopyrinopathies: update on pathogenesis and treatment. Nat Clin Pract Rheumatol 2008;4:481-9.
27. Lamprecht P, Moosig F, Adam-Klages S et al. Small vessel vasculitis and relapsing panniculitis in tumour necrosis factor receptor associated periodic syndrome (TRAPS). Ann Rheum Dis 2004;63:1518-20.
28. Ramot Y, Czarnowicki T, Maly A, Navon-Elkan P, Zlotogorski A. Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: a case report. Pediatr Dermatol 2011;28:538-41.
29. Tanaka K. The proteasome: Overview of structure and functions. Proc Jpn Acad Ser B Phys Biol Sci 2009;85:12-36.
30. Fehling HJ, Swat W, Laplace C et al. MHC class I expression in mice lacking the proteasome subunit LMP-7. Science 1994;265:1234-7.
31. Bulua AC, Simon A, Maddipati R et al. Mitochondrial reactive oxygen species promote production of proinflammatory cytokines and are elevated in TNFR1-associated periodic syndrome (TRAPS). J ExpMed 2011;208:519-33.
32. Muchamuel T, Basler M, Aujay MA et al. A selective inhibitor of the immunoproteasome subunit LMP7 blocks cytokine production and attenuates progression of experimental arthritis. Nat Med 2009;15:781-7.