色素异常性皮肤淀粉样变病一家系GPNMB基因突变检测

目的 对1个色素异常性皮肤淀粉样变病家系的3例有临床表型患者及5例无症状家系成员的GPNMB基因进行变异分析，明确其致病原因与遗传模式。方法 收集先证者血液、口腔拭子样本及部分家系成员口腔拭子样本并提取DNA,对先证者行高通量全外显子测序寻找致病变异，并采用Sanger测序对家系内部分成员进行致病变异的检测。结果 该家系存在GPNMB基因的第5外显子c.565C>T(p.Arg189X)突变，其中先证者GPNMB基因存在c.565C>T(p.Arg189X)纯合突变，其父亲、母亲、姑妈、两位姐姐GPNMB基因的第5外显子均存在c.565C>T(p.Arg189X)杂合无义变异。结论 GPNMB基因第5外显子c.565C>T(p.Arg189X)纯合变异为该色素异常性皮肤淀粉样变病家系患者的致病原因，遗传模式为不完全显性，且存在不同表现度，该突变位点的新遗传模式在国内尚未查到有相同的报道。     

色素异常性皮肤淀粉样变

报告3例色素异常性皮肤淀粉样变.3例患者临床表现为四肢和(或)躯干、面部弥漫色素沉着伴色素减退斑,毛细血管扩张及表皮萎缩不明显,一般手足未累及.自觉症状不明显.本病易被误诊为白癜风、血管萎缩性皮肤异色病等,组织病理诊断及特殊染色有助于鉴别.对其中1例使用共聚焦激光扫描显微镜观察皮损,在真皮乳头处可观察到折光较强的物质沉积,伴有部分真皮乳头毛细血管扩张,皮损基底层有黑素帽增多的现象.     

色素异常性皮肤淀粉样变病一家系报道

患者,男,61岁。全身皮肤出现色素沉着及减退斑10年余。其父、兄与其有相同的皮疹特征。皮损组织病理示：表皮角化过度,部分上皮脚融合,棘层轻度增生,真皮浅层小血管可见淋巴细胞浸润,部分真皮乳头层可见嗜伊红团块状物质,其间可见裂隙。真皮乳头层团块状物质刚果红染色阳性。结合临床及实验室检查,诊断为色素异常性皮肤淀粉样变病。     

色素异常性皮肤淀粉样变病一例

29岁男性患者,全身泛发性灰黑色色素沉着伴色素减退29年.皮肤科情况:面部、躯干及四肢可见泛发性灰黑色色素沉着斑,其间散在分布色素减退斑.背部皮损组织病理:真皮乳头可见团块状均质淡红染物质,部分上方有裂隙,真皮浅层少量炎性细胞浸润,并可见噬色素细胞.结晶紫染色及刚果红染色均阳性.诊断:色素异常性皮肤淀粉样变病.     

色素异常性皮肤淀粉样变性1例

<正>1病历摘要患者男,24岁。因躯干及四肢色素沉着和色素减退20余年,加重7年,于2018年1月24日来我院门诊就诊。患者20年前无明显诱因背部和四肢伸侧出现散在分布,米粒至绿豆大色素减退斑,无瘙痒等自觉症状,随后色素减退斑逐渐增多和扩大,上述皮损间又出现褐色的色素沉着斑,日晒后,色素沉着斑颜色加深。     

色素异常性皮肤淀粉样变1例

报告1例色素异常性皮肤淀粉样变。患者男,22岁,四肢及项部色素减退斑21年。查体:项部、四肢弥漫性黑褐色斑,其上有较多色素减退斑,大小不一,少数融合,对称分布。皮损病理检查:表皮灶性角化过度,表皮下裂隙,真皮乳头见嗜伊红均质物沉积,可见较多色素滴落及噬黑素细胞,血管周围少许淋巴细胞。甲基紫染色阳性。根据临床表现及皮肤组织病理,诊断为色素异常性皮肤淀粉样变。     

色素异常性皮肤淀粉样变的OSMR及IL31RA基因突变研究

目的：研究色素异常性皮肤淀粉样变（Amyloidosis cutis dyschromica,ACD）的OSMR基因、IL31RA基因的突变情况。方法：用PCR扩增色素异常性皮肤淀粉样变的两姐妹患者及其家系成员的OSMR基因第14、15外显子和IL31RA基因第12外显子并进行测序,以30个正常人的样本作对照。结果：患者及其家系成员OSMR基因第14、15外显子和IL31RA基因第12外显子均未发现明显突变。结论：色素异常性皮肤淀粉样变的发生可能存在遗传学上的多变性。     

青春期后发病的色素异常性皮肤淀粉样变家系相关基因突变研究

目的:青春期后发病的色素异常性皮肤淀粉样变少见,本文报道一家系,并检测该家系中OSMR及IL31RA基因的突变情况。方法:经知情同意后采集该先证者及家系4例患者外周血后用PCR扩增OSMR基因第12～15号外显子和IL31RA基因12号外显子并进行测序。结果:该家系所有成员OSMR基因第12～15号外显子和IL31RA基因第12号外显子均未发现明显突变。结论:该家系未在OSMR基因第12～15号外显子和IL31RA基因第12号外显子发现突变,可能存在其他基因突变位点有关,需要进一步验证。     

皱褶部位色素异常性皮肤淀粉样变一例

56岁女性患者,颈部色素沉着及色素减退斑3年.皮损组织病理示:表皮角化过度,真皮乳头可见团块状均质淡红染物质,真皮浅层少量炎性细胞浸润,并可见噬色素细胞;甲紫染色和刚果红染色均阳性.诊断:色素异常性皮肤淀粉样变.     

色素异常性皮肤淀粉样变性1例

患者女,21岁.因颈部、躯干、四肢密集丘疹伴色素减退斑13年就诊.患者13年前患者无明显诱因颈部出现密集红色丘疹,消退后遗留点状白斑,随后躯干、四肢等处陆续出现点状色素减退斑,同时全身皮肤变黑、变厚,偶有轻度瘙痒.2000年于某医院行皮肤病理学检查诊断为"色素减退性白斑",未系统治疗.9年前日晒部位如前臂、小腿、颈部出现红斑、丘疹、水疱,轻度瘙痒,以"日光性皮炎"、"湿疹"治疗可治愈,皮疹逐年复发、加重.否认其他疾病病史,无药物过敏史及家族遗传病史.     

Familial amyloidosis cutis dyschromica: six cases from three families

Amyloidosis cutis dyschromica, a rare form of primary cutaneous amyloidosis requiring histopathological confirmation, is characterized by generalized, asymptomatic hyperpigmentation intermingled with several hypopigmented spots without papulation, atrophy, and telangiectasia. Its onset usually begins before puberty. We describe six patients from three families, four male and two female. The mean age at onset was 10.2 years. Although the skin eruptions had developed extensively since childhood, systemic involvement was not evident even after long-term follow-up. Due to its unique and characteristic features, this condition should be considered as a separate entity and differentiated from other variants of primary cutaneous amyloidosis. The familial occurrence in our report suggests a genetic causal factor in this disease.     

Amyloidosis cutis dyschromica: a case treated with acitretin

We report a case of amyloidosis cutis dyschromica with diffuse postinflammatory-type hypo- and hyperpigmentation all over the body. The diagnosis was confirmed with routine light microscopic and immunohistochemical staining methods. The patient was treated with acitretin with a good response.     

Amyloidosis cutis dyschromica in two siblings and review of the epidemiology,clinical features and management in 48 cases

Amyloidosis cutis dyschromica (ACD) is a rare form of primary cutaneous amyloidosis (PCA). There is a paucity of information in the dermatology literature to guide its diagnosis, investigation and treatment. We present two siblings with ACD and summarise the epidemiology, clinical features, natural history and treatments in 48 cases of ACD from the literature. Familial cases were more common (37) than sporadic cases. ACD is predominantly reported in those of East and South‐East Asian ethnicity (63%). The mean age of onset was 6 years in familial cases, and 23 years in sporadic cases. The clinical features of familial and sporadic ACD do not differ substantially. Pruritus was the only symptom, and was reported in 19% of all cases. There were no reported ACD cases with systemic amyloidosis. Acitretin was reported to result in improvement in seven of 10 patients treated. Routine investigation for systemic involvement is not necessary. Acitretin may be helpful.     

52例原发性皮肤淀粉样变病因分析

目的：明确原发性皮肤淀粉样变患者发病相关因素。方法：对2018年3月至2019年1月我院52例原发性皮肤淀粉样（PCA）变患者及104名正常对照的资料进行分析。结果：多因素 Logistic回归分析显示原发性皮肤淀粉样变的发病因素中日光暴晒、搔抓、过敏为危险因素,OR值分别为3.044,9.254,4.653,P均<0.05。合并疾病中,湿疹、荨麻疹、过敏性鼻炎发病率在PCA患者与104名健康正常对照间比较,差异有统计学意义（P<0.05）。结论：日光暴晒、搔抓、过敏与原发性皮肤淀粉样变的发病有关,患者易合并湿疹、荨麻疹、过敏性鼻炎。     

Anosacral cutaneous amyloidosis: a study of 10 Chinese cases

BACKGROUND: Primary cutaneous amyloidoses are rare in Western countries, but are relatively common in Taiwan. Anosacral cutaneous amyloidosis is a rare type of primary cutaneous amyloidoses, first reported in Japanese patients. PATIENTS/METHODS: In the present study, we investigated the age of onset, sites of involvement, associated systemic diseases, and histopathological findings in 10 cases of anosacral cutaneous amyloidosis seen during the past 27 years. RESULTS: In previous reports the aetiology of anosacral cutaneous amyloidosis was thought to be a senile change, but half of our patients developed the disease before the age of 60 years. Based on our histopathological findings, apoptosis may be the initial event causing amyloid deposition, although the precise mechanism causing apoptosis needs further investigation. Three patients were found to have diabetes mellitus, but any relationship to anosacral cutaneous amyloidosis is unclear. CONCLUSIONS: No cases of this cutaneous disorder have been reported in the Western literature; there seems to be a racial difference accounting for the disease, although the precise factor is not clarified yet. The disease could easily be misdiagnosed as lichen simplex chronicus, postinflammatory hyperpigmentation or tinea cruris; therefore, a thorough history, a careful physical examination and a skin biopsy is needed to establish a firm diagnosis.     

原发于头皮的皮肤淀粉样变一例

原发性皮肤淀粉样变皮损常见于双侧胫前、背部及大腿,也可见于阴茎及面颈部,原发于头皮者少见,诊治具有一定的难度。现报道1例我科诊治原发于头皮的皮肤淀粉样变患者。给予0.1%维A酸外用头皮,治疗2个月,皮损变化不明显,瘙痒缓解,目前进一步随访中。     

Protein AL origin in amyloidosis cutis nodularis atrophicans

A case of amyloidosis cutis nodularis atrophicans (ACNA) was reported. The characteristics of the amyloid deposit were examined using the unlabeled immunoperxoidase method (peroxidase-antiperoxidase method, so called PAP). The study revealed that the amyloid deposit contained A type protein AL, and the surrounding plasma cells contained λ and κ types of both immunoglobulin light chains and Bence Jones protein, with strong preference toward the λ type of each protein. These results suggest that, in ACNA, the plasma cells produce and secrete immunoglobulin light chains and/or Bence Jones protein, and that the protein degenerates into protein AL and then accumulates in the tissue to form nodules. ACNA seems to be a localized form of AL type amyloidosis, since patients with ACNA have no signs of systemic involvement.