A syndrome with nodular erythema, elongated and thickened fingers, and emaciation

Kitano, Y.

doi:10.1001/archderm.121.8.1053

Cited by 13 publications

(14 citation statements)

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“…This disease was soon recognized as a new entity uniquely reported in Japan, and was called ''a syndrome with nodular erythema, elongated and thickened fingers, and emaciation'' or ''hereditary lipomuscular atrophy with joint contracture, skin eruptions and hyper-g-globulinemia'' based on the common characteristic features [46,47]. NNS usually begins in early infancy with a pernio-like rash, and develops periodic high fevers, nodular erythema-like eruptions and myositis.…”

Section: Proteasome Disability Syndromesmentioning

confidence: 99%

Rare hereditary autoinflammatory disorders: Towards an understanding of critical in vivo inflammatory pathways

Kanazawa

2012

Journal of Dermatological Science

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Section: Proteasome Disability Syndromesmentioning

confidence: 99%

Rare hereditary autoinflammatory disorders: Towards an understanding of critical in vivo inflammatory pathways

Kanazawa

2012

Journal of Dermatological Science

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“…This was followed by a number of case reports from Japan: Nishimura et al reported 3 patients with similar features from 2 families 184 ; Kitano et al reported 12 cases from 8 kindreds and added lipodystrophy to the phenotype 185 ; and Yamada et al described 2 siblings, born of consanguineous parents, with steroid-responsive nodular skin rash, fever, and progressive lipodystrophy, 186 one of whom developed cardiomegaly and died of cardiac failure. 187 In 1993, Tanaka et al reported 13 additional Japanese patients and proposed that all patients, including those previously published, suffered from the same syndrome.…”

Section: Definitionmentioning

confidence: 97%

Autoinflammatory Diseases Predominantly Affecting Bone and Joints

Ferguson

Goldbach‐Mansky

2014

Stiehm's Immune Deficiencies

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“…NNS is a rare, distinct inflammatory, and wasting disease which usually begins in early infancy and has only been reported in Japanese patients [105]. Clinical features of this disease include elongated and thickened fingers, hereditary lipomuscular atrophy with joint contractures, periodic high fever, hyper- γ -globulinemia nodular erythema, and myositis [106, 107]. Extracts separated by glycerol gradient centrifugation from immortalized lymphoblastoid cell lines obtained from an NNS patient, his heterozygous parent, and a healthy control showed that all three proteolytic activities of the proteasome were decreased in the NNS patient relative to the healthy control.…”

Section: Immunoproteasome Mutations and Polymorphismsmentioning

confidence: 99%

Genetics of Proteasome Diseases

Gomes

2013

Scientifica

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The proteasome is a large, multiple subunit complex that is capable of degrading most intracellular proteins. Polymorphisms in proteasome subunits are associated with cardiovascular diseases, diabetes, neurological diseases, and cancer. One polymorphism in the proteasome gene PSMA6 (−8C/G) is associated with three different diseases: type 2 diabetes, myocardial infarction, and coronary artery disease. One type of proteasome, the immunoproteasome, which contains inducible catalytic subunits, is adapted to generate peptides for antigen presentation. It has recently been shown that mutations and polymorphisms in the immunoproteasome catalytic subunit PSMB8 are associated with several inflammatory and autoinflammatory diseases including Nakajo-Nishimura syndrome, CANDLE syndrome, and intestinal M. tuberculosis infection. This comprehensive review describes the disease-related polymorphisms in proteasome genes associated with human diseases and the physiological modulation of proteasome function by these polymorphisms. Given the large number of subunits and the central importance of the proteasome in human physiology as well as the fast pace of detection of proteasome polymorphisms associated with human diseases, it is likely that other polymorphisms in proteasome genes associated with diseases will be detected in the near future. While disease-associated polymorphisms are now readily discovered, the challenge will be to use this genetic information for clinical benefit.

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A syndrome with nodular erythema, elongated and thickened fingers, and emaciation

Cited by 13 publications

References 0 publications

Rare hereditary autoinflammatory disorders: Towards an understanding of critical in vivo inflammatory pathways

Rare hereditary autoinflammatory disorders: Towards an understanding of critical in vivo inflammatory pathways

Autoinflammatory Diseases Predominantly Affecting Bone and Joints

Genetics of Proteasome Diseases

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