KEGG   DISEASE: 中條-西村症候群
エントリ  
H01741                                                             

名称    
中條-西村症候群
概要    
Autoinflammation lipodystrophy and dermatosis syndrome (ALDD) is a systemic inflammatory condition characterized by recurrent episodes of fever, cutaneous lesions, lipodystrophy, and visceral inflammatory manifestations. In 2011, several studies showed that a number of disorders referred to as joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP) syndrome, Nakajo-Nishimura syndrome, Japanese autoinflammatory syndrome with lipodystrophy (JASL), and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome are caused by mutations in proteasome subunit beta type 8 (PSMB8) gene, indicating that these disorders are disease phenotypes along the same disease spectrum. Key symptoms include a persistent fever (higher than 38.5 degrees Celsius), steroid-sensitive erythema nodosum-like (edematous and purpuric) plaques, long clubbed fingers, hyperhidrosis, myositis, hepatosplenomegaly, macroglossia, facial and limbs lipoatrophy, and developmental (height, weight, and IQ) retardation. Skin biopsies show immature myeloid-lineage cells with mitoses. Some patients may have joint contracture, auricular and nasal chondritis, and calcification of the basal ganglia. Acute cardiovascular event is the leading cause of death in these patients for whom life expectancy is notably reduced. Management of these patients is by palliative care. The need for steroids is very high even in combination with anti IL-1, anti IL-6 or anti-TNF treatments.
カテゴリ  
免疫系疾患
階層分類  
ヒト疾患 [BR:jp08402]
 免疫系疾患
  その他の免疫系疾患
   H01741  中條-西村症候群
ICD-11 による疾患分類 [BR:jp08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H01741  中條-西村症候群
特定疾患 (難病) [jp08407.html]
 H01741
病因遺伝子 
PSMB8 [HSA:5696] [KO:K02740]
リンク   
ICD-11: LD27.6
ICD-10: D89.8
OMIM: 256040
文献    
  著者
Almeida de Jesus A, Goldbach-Mansky R
  タイトル
Monogenic autoinflammatory diseases: concept and clinical manifestations.
  雑誌
Clin Immunol 147:155-74 (2013)
DOI:10.1016/j.clim.2013.03.016
文献    
  著者
Touitou I, Galeotti C, Rossi-Semerano L, Hentgen V, Piram M, Kone-Paut I
  タイトル
The expanding spectrum of rare monogenic autoinflammatory diseases.
  雑誌
Orphanet J Rare Dis 8:162 (2013)
DOI:10.1186/1750-1172-8-162
文献    
  著者
Davila-Seijo P, Hernandez-Martin A, Torrelo A
  タイトル
Autoinflammatory syndromes for the dermatologist.
  雑誌
Clin Dermatol 32:488-501 (2014)
DOI:10.1016/j.clindermatol.2014.02.004
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