KEGG   DISEASE: 限局性強皮症
エントリ  
H01493                                                             
名称    
限局性強皮症;
モルフィア
  下位グループ
小児の強障害性汎発型限局性強皮症 (DPMC)
概要    
Localized scleroderma, also known as morphea, is a rare fibrosing disorder of the skin and underlying tissues. Sclerosis is mainly limited to the skin, but subcutaneous tissue, fascia, and underlying muscles and bone may also be involved. It is generally differentiated from systemic scleroderma by the lack of Raynaud's phenomenon and visceral involvements. Localized scleroderma is classified into plaque morphea, generalized morphea, and linear scleroderma subtypes according to the clinical presentation and depth of tissue involvement. Localized scleroderma generally appears at any age, and onset at 20-50 years old is common, with the exception of the linear type, which often develops in childhood. Extracutaneous manifestations in morphea are not rare. The most common extracutaneous manifestations are arthralgia and myalgia. Neurologic manifestations and ocular complications are the most common in those children with head and neck involvement.
カテゴリ  
免疫系疾患; 皮膚疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 14 皮膚の疾患
  炎症性皮膚症
   瘢痕または硬化性炎症性皮膚症
    EB61  モルフェア
     H01493  限局性強皮症
病因遺伝子 
(DPMC) STAT4 [HSA:6775] [KO:K11222]
病原体   
Borrelia burgdorferi [GN:bbu]
治療薬   
トリアムシノロンアセトニド [DR:D00983]
メチルプレドニゾロン酢酸エステル [DR:D00979]
リンク   
ICD-11: EB61
MeSH: D012594
OMIM: 620443
文献    
  著者
Gorkiewicz-Petkow A, Kalinska-Bienias A
  タイトル
Systemic involvement in localized scleroderma/morphea.
  雑誌
Clin Dermatol 33:556-62 (2015)
DOI:10.1016/j.clindermatol.2015.05.009
文献    
  著者
Toki S, Motegi S, Yamada K, Uchiyama A, Kanai S, Yamanaka M, Ishikawa O
  タイトル
Clinical and laboratory features of systemic sclerosis complicated with localized scleroderma.
  雑誌
J Dermatol 42:283-7 (2015)
DOI:10.1111/1346-8138.12775
文献    
PMID:37256972 (STAT4)
  著者
Baghdassarian H, Blackstone SA, Clay OS, Philips R, Matthiasardottir B, Nehrebecky M, Hua VK, McVicar R, Liu Y, Tucker SM, Randazzo D, Deuitch N, Rosenzweig S, Mark A, Sasik R, Fisch KM, Pimpale Chavan P, Eren E, Watts NR, Ma CA, Gadina M, Schwartz DM, Sanyal A, Werner G, Murdock DR, Horita N, Chowdhury S, Dimmock D, Jepsen K, Remmers EF, Goldbach-Mansky R, Gahl WA, O'Shea JJ, Milner JD, Lewis NE, Chang J, Kastner DL, Torok K, Oda H, Putnam CD, Broderick L
  タイトル
Variant STAT4 and Response to Ruxolitinib in an Autoinflammatory Syndrome.
  雑誌
N Engl J Med 388:2241-2252 (2023)
DOI:10.1056/NEJMoa2202318
LinkDB    

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