皮肤僵硬综合征
Stiff skin syndrome
定义 英文原文（暂无中文）
Stiff skin syndrome is a rare, slowly progressive cutaneous disease characterized by rock-hard skin bound firmly to the underlying tissues (mainly on the shoulders, lower back, buttocks and thighs), mild hypertrichosis and hyperpigmentation overlying the affected areas of skin, as well as limited joint mobility (mainly of large joints) with flexion contractures. Cutaneous nodules, affecting mostly distal interphalangeal joints, as well as extracutaneous manifestations, including diffuse entrapment neuropathy, scoliosis, a tiptoe gait and a narrow thorax, may be associated. Restrictive pulmonary changes, muscle weakness, short stature and growth delay have also been reported. No vascular hyperreactivity, immunologic abnormalities nor visceral, muscular or bone involvement has been described.
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 儿童期、婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| FBN1 | fibrillin 1 | Disease-causing germline mutation(s) in |
临床表型 24
极常见 99–80%3
- 皮肤弹性缺乏 HP:0100679
- 关节活动受限 HP:0001376
- 皮肤增厚 HP:0001072
常见 79–30%2
- 皮肤色素沉着 HP:0000953
- 多毛症 HP:0000998
偶见 29–5%18
- 脂代谢异常 HP:0003119
- 肌肉组织异常 HP:0003011
- 皮肤发育缺陷/不全 HP:0008065
- 体重下降 HP:0004325
- 青光眼 HP:0000501
- 高血压 HP:0000822
- 痛觉障碍 HP:0007328
- 脂肪萎缩 HP:0100578
- 面中部后缩 HP:0011800
- 肌无力 HP:0001324
- 肾结石 HP:0000787
- 周围神经病 HP:0009830
- 视网膜脱离 HP:0000541
- 感音神经性听力受损 HP:0000407
- 身材矮小 HP:0004322
- 斜视 HP:0000486
- 皮下结节 HP:0001482
- 2型糖尿病 HP:0005978
罕见 <4–1%1
- 自身免疫性抗体阳性 HP:0030057
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）