家族性原发局灶性皮肤淀粉样变性
Familial primary localized cutaneous amyloidosis
ORPHA:353220疾病
定义 英文原文（暂无中文）
A rare primary cutaneous amyloidosis characterized by familial occurrence of lichen and/or macular amyloidosis due to fibrillary degeneration and apoptosis of basal keratinocytes, followed by conversion of filamentous masses into amyloid material in the papillary dermis. Patients typically present with a pruritic eruption of grouped hyperkeratotic papules, which may coalesce to form hyperkeratotic plaques, with a predilection for the lower limbs (lichen amyloidosis), or with hyperpigmented macules, sometimes with a reticulate pattern, most commonly arising on the back, chest or interscapular areas (macular amyloidosis).
别名
FPLCA
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 各年龄段
相关基因 2
| 基因 | 名称 | 关联类型 |
|---|---|---|
| OSMR | oncostatin M receptor | Disease-causing germline mutation(s) in |
| IL31RA | interleukin 31 receptor A | Disease-causing germline mutation(s) in |
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）