| H01799 | |
| H番号 | H01799 |
| 名称 | 振動性蕁麻疹 |
| 概要 | Vibratory urticaria is a rare type of physical skin reactivity characterized by the occurrence of local erythematous, edematous, cutaneous and subcutaneous lesions that result from stimuli of a vibratory nature. A local stimulus of sufficient intensity will also result in generalized or facial erythema accompanied by a transient headache. The histamine release that is associated with urticarias has implicated aberrant degranulation of mast cells in their pathogenesis. A missense variant in ADGRE2 gene has been found in families with vibratory urticaria, implicating the encoded adhesion G-protein-coupled receptor (GPCR) as a mechanosensor in mast cells. |
| カテゴリ | 免疫系疾患; 皮膚疾患 |
| ネットワーク | - |
| 病因遺伝子 | ADGRE2 [HSA:30817] [KO:K08443] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: EB01.Y ICD-10: L50.4 MeSH: C536347 OMIM: 125630 |
| 文献 | PMID:5050327 著者 Patterson R, Mellies CJ, Blankenship ML, Pruzansky JJ タイトル Vibratory angioedema: a hereditary type of physical hypersensitivity. 雑誌 J Allergy Clin Immunol 50:174-82 (1972) DOI:10.1016/0091-6749(72)90048-6 PMID:26841242 著者 Boyden SE, Desai A, Cruse G, Young ML, Bolan HC, Scott LM, Eisch AR, Long RD, Lee CC, Satorius CL, Pakstis AJ, Olivera A, Mullikin JC, Chouery E, Megarbane A, Medlej-Hashim M, Kidd KK, Kastner DL, Metcalfe DD, Komarow HD タイトル Vibratory Urticaria Associated with a Missense Variant in ADGRE2. 雑誌 N Engl J Med 374:656-63 (2016) DOI:10.1056/NEJMoa1500611 |