淀粉样变性，原发性局部皮肤，1
基因病名称(英)
Amyloidosis, primary localized cutaneous, 1
别名(英)
Amyloidosis IX,Amyloidosis type 9,Familial lichen amyloidosis,PCA,PLCA,Primary cutaneous amyloidosis,Primary localized cutaneous amyloidosis
别名
淀粉样变性 IX、9 型淀粉样变性、家族性地衣淀粉样变性、PCA、PLCA、原发性皮肤淀粉样变性、原发性局部皮肤淀粉样变性
统计
reviewed:1; annotated:0
交叉引用
105250,C0268397,C0268398,D028226
描述(英)
A primary amyloidosis characterized by localized cutaneous amyloid deposition. This condition usually presents with itching (especially on the lower legs) and visible changes of skin hyperpigmentation and thickening that may be exacerbated by chronic scratching and rubbing. Primary localized cutaneous amyloidosis is often divided into macular and lichen subtypes although many affected individuals often show both variants coexisting. Lichen amyloidosis characteristically presents as a pruritic eruption of grouped hyperkeratotic papules with a predilection for the shins, calves, ankles and dorsa of feet and thighs. Papules may coalesce to form hyperkeratotic plaques that can resemble lichen planus, lichen simplex or nodular prurigo. Macular amyloidosis is characterized by small pigmented macules that may merge to produce macular hyperpigmentation, sometimes with a reticulate or rippled pattern. In macular and lichen amyloidosis, amyloid is deposited in the papillary dermis in association with grouped colloid bodies, thought to represent degenerate basal keratinocytes. The amyloid deposits probably reflect a combination of degenerate keratin filaments, serum amyloid P component, and deposition of immunoglobulins.
描述
以局部皮肤淀粉样蛋白沉积为特征的原发性淀粉样变性。这种情况通常表现为瘙痒（尤其是小腿）和皮肤色素沉着过度和增厚的明显变化，慢性抓挠和摩擦可能会加剧这种变化。原发性局部皮肤淀粉样变性通常分为黄斑亚型和地衣亚型，尽管许多受影响的个体通常显示两种变体共存。地衣淀粉样变性的特征性表现为成群的角化过度丘疹的瘙痒性喷发，好发于小腿和大腿的胫骨、小腿、脚踝和背侧。丘疹可能合并形成角化过度斑块，类似于扁平苔藓、单纯苔藓或结节性痒疹。黄斑淀粉样变性的特征是小的色素斑，可能合并产生黄斑色素沉着过度，有时呈网状或波纹状。在黄斑和地衣淀粉样变性中，淀粉样蛋白沉积在真皮乳头中，与成组的胶体体相关，被认为代表退化的基底角质形成细胞。淀粉样蛋白沉积可能反映了退化的角蛋白丝、血清淀粉样蛋白 P 成分和免疫球蛋白沉积的组合。