硬化性黏液水肿
Scleromyxedema
定义 英文原文（暂无中文）
A rare lichen myxedematosus characterized by a progressive, generalized, papular, sclerodermoid cutaneous eruption usually occurring in association with monoclonal gammopathy, but in the absence of thyroid disease. Histological hallmark is the triad of dermal mucin deposition, fibroblast proliferation, and fibrosis. Patients present with relatively sudden onset of numerous closely spaced, waxy, firm papules and plaques predominantly involving the head, neck, trunk, and dorsal aspects of the extremities, on the background of thickened, edematous, erythematous skin with sclerodermoid appearance. Systemic involvement with cardiovascular, gastrointestinal, pulmonary, musculoskeletal, renal, or nervous system complications is common.
别名
全身性丘疹样和硬皮病样黏液水肿性苔藓
基本事实
- 发病年龄
- 成年期
- 患病率
- <1 / 1 000 000
临床表型 41
极常见 99–80%3
- 泛发性皮肤异常 HP:0011354
- 丘疹 HP:0200034
- 副蛋白血症 HP:0031047
常见 79–30%14
- 脸部异常 HP:0000271
- 前臂形态异常 HP:0002973
- 眉间异常 HP:0002056
- 手异常 HP:0001155
- 颈部异常 HP:0000464
- 关节疼痛 HP:0002829
- 吞咽困难 HP:0002015
- 血清肌酸磷酸激酶升高 HP:0003236
- 肌病 HP:0003198
- 近端肌肉无力 HP:0003701
- 指硬皮病 HP:0011838
- 肤色丘疹 HP:0025512
- 硬皮 HP:0030053
- 皮肤增厚 HP:0001072
偶见 29–5%17
- 肺部形态异常 HP:0002088
- 骨骼肌形态异常 HP:0011805
- 中枢神经系统电生理异常 HP:0030178
- 心血管系统的任何异常。 HP:0001626
- 胃肠道异常 HP:0011024
- 肾脏异常 HP:0000077
- 衰老的狮面面容 HP:0008509
- 远端肌无力 HP:0002460
- 脑病 HP:0001298
- 劳力性呼吸困难 HP:0002875
- 胃食管反流 HP:0002020
- 蠕动迟缓 HP:0100771
- 肌痛 HP:0003326
- 小口畸形 HP:0000160
- 瘙痒 HP:0000989
- 雷诺现象 HP:0030880
- 癫痫发作 HP:0001250
罕见 <4–1%6
- 冠状动脉形态异常 HP:0006704
- 肺动脉形态异常 HP:0030966
- 昏迷 HP:0001259
- 多发性骨髓瘤 HP:0006775
- 卒中 HP:0001297
- 短暂性脑缺血发作 HP:0002326
排除 0%1
- 甲状腺生理功能异常 HP:0002926
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）