Giant Basal Cell Carcinoma Associated with Systemic Amyloidosis

A large basal cell carcinoma, 39 times 26 cm in size, is presented as second in size only to the largest basal cell carcinoma documented (40 times 30 cm), reported by Beck and co-workers (1). A 61-year-old Japanese male visited our clinic with a huge ulcerating tumor on the back. He had hidden the tumor for the previous 30 years. The tumor was histologically confirmed as basal cell carcinoma. The condition was associated with anemia, hypoproteinemia, and dyspnea, and with systemic amyloidosis in the skin, in the lymph nodes, and in the intestinal canal. On admission, the tumor had metastasized to the regional lymph nodes, and, about two years after the first operation, there were metastases to bone and lung, leading to death due to respiratory failure.     

Systemic Amyloidosis with Initial Polyneuropathy

We report a case of systemic amyloidosis with the initial sign of polyneuropathy. The patient eventually developed heart failure, macroglossia, and ecchymoses 6 years later. Biopsies from the sural nerve and normal-looking skin both proved the existence of amyloid.     

皮肤浆细胞增生症1例及相关文献复习

皮肤浆细胞增生症是一种罕见的疾病,其特征主要是皮肤良性多克隆浆细胞浸润,通常与多克隆γ-球蛋白血症相关.其典型的临床表现为红褐色斑、斑块或结节,高γ-球蛋白血症,一半以上的患者伴有不同程度的淋巴结病.据以往文献报道,此病主要发生于日本中老年人群.截止到目前为止,关于中国人皮肤浆细胞增生症的报道尚少.在此报道52岁的中国女性浆细胞增生症1例,并复习以往相关文献,对其流行病学、临床特征、病理特点、病因病机、诊断、治疗及预后等进行总结分析.     

Systemic Plasmacytosis: A Case which Improved with Melphalan

Plasmacytosis, a distinctive proliferative disorder of plasma cells, is characterized by peculiar multiple skin eruptions, lymphadenopathy and polyclonal hypergammaglobulinemia. To date there has been no report of such cases showing remarkable responses to therapeutic agents. We herein report a case of plasmacytosis which developed in a 52-year-old Korean man and showed remarkable improvement with melphalan.     

Amyloidosis of the tongue with kappa light chain disease

A 70-year-old woman presented with a painful, red tongue with papules associated with xerostomia and systemic symptoms including weight loss, difficulty in swallowing and breathing, haemochezia and leg swelling. Biopsy from the tongue demonstrated amyloid deposits and, on further investigation, kappa chain disease was diagnosed. Primary systemic amyloidosis was diagnosed and the patient died within weeks of presentation.     

皮肤淀粉样变病并结节型肺淀粉样变1例

目的探讨原发性皮肤和肺淀粉样变病的诊断、治疗及预后。方法对1例原发性皮肤并肺淀粉样变病人的临床表现、实验室检查及治疗进行总结。结果病人皮肤主要表现为网状褐色斑、苔藓样变和结节,皮损组织病理见均质嗜伊红物质沉积于真皮乳头和网状层,刚果红染色阳性;肺部CT显示结节、纤维状条索、斑片状高密度影、纵隔淋巴结肿大,结节切除后,病理结果显示淀粉样变。结论混合型皮肤淀粉样变临床少见,并发临床罕见的结节型肺淀粉样变,诊断依靠病理活检,目前尚无特异性治疗,但抗炎、抗菌治疗可改善临床症状。     

Cutaneous plasmacytosis associated with lung and anal carcinomas

Cutaneous plasmacytosis is a rare disorder characterized by a benign proliferation of mature plasma cells that appears as multiple dark-brown to purplish skin lesions, often associated with polyclonal hypergammaglobulinaemia. We present the case of a 55-year-old Caucasian man who suffered from a cutaneous plasmacytosis associated with two different carcinomas. Cutaneous plasmacytosis seems to be a reactive process because most cases reported are not associated with any apparent underlying disease. Nevertheless, because few reported cases were associated with malignancies, screening of additional neoplasms would be justified.     

皮肤淀粉样变中淀粉样蛋白4种染色法的比较

目的对4种特殊染色法显示淀粉样蛋白的优劣进行对比分析,为原发性皮肤淀粉样变探寻更好的组织病理学诊断方法。方法将本院皮肤科近10年确诊为原发性皮肤淀粉样变的33例皮损组织石蜡标本重新切片后分别进行刚果红、甲基紫、结晶紫和过碘酸雪夫氏反应(PAS)4种特殊染色,显微镜下观察组织切片中淀粉样蛋白的染色情况。结果33例标本中的淀粉样蛋白经4种特殊染色后均呈阳性着色;刚果红、甲基紫、结晶紫和PAS分别将淀粉样蛋白染成砖红色、蓝紫色、紫色和紫红色;前3种方法的染色效果不稳定,部分切片中可见淀粉样蛋白与周围组织分辨不清;而在所有PAS染色切片中,淀粉样蛋白与周围组织的颜色对比明显,但其特异性不强。结论在选择确诊原发性皮肤淀粉样变的特染方法时,PAS染色结合其他3种染色中的任何一种能够弥补单一方法的不足。     

结节性皮肤淀粉样变病1例

患者女,48岁。右腋下大小不等的结节样斑块十余年,皮损表现为淡黄色、质硬的斑块和结节。组织病理学检查示:表皮下有不规则的胶样物质沉积。刚果红染色阳性。诊断:结节性皮肤淀粉样变病。     

Poikiloderma-like Cutaneous Amyloidosis in an Ethnic Chinese Girl

Primary cutaneous amyloidosis is the deposition of amyloid in the skin without involvement of internal organs. It is easily diagnosed when presented in its typical manifestation. Atypical or rare clinical presentations can pose diagnostic difficulties. Poikiloderma-like cutaneous amyloidosis (PCA), a rare variant of primary cutaneous amyloidosis, was first reported in the literature in 1936 (1). It is characterised by: 1) poikilodermatous skin lesions; 2) lichenoid papules; 3) cutaneous amyloid deposit in the pigmented and lichenoid lesions; 4) light sensitivity; 5) short stature; and 6) other features such as blister formation or palmoplantar keratosis. Ogino coined the term PCA syndrome when these unusual features present early in life (2). We report a 26-year-old Chinese woman who presented with poikilodermatous skin lesions and was misdiagnosed as poikiloderma atrophica vasculare (PAV) on the basis of clinical appearance without any histological proof. The diagnosis of PCA was made after skin biopsy which showed amyloid deposits in the skin. This condition can easily be confused with other true poikiloderma skin diseases. Histology is important in confirming the diagnosis.     

Localized Cutaneous Amyloidosis Simulating Lichen Simplex Chronicus

We report a case of localized cutaneous amyloidosis in a 42-year-old Japanese woman. Skin lesions were confined to the nuchal area, and the clinical appearance resembled that of lichen simplex chronicus. Our experience with this case indicates that, in cases presenting with persistent skin lesions simulating lichen simplex chronicus, amyloid should be specifically looked for in biopsy material.     

Primary Localized Cutaneous Nodular Amyloidosis Following Local Trauma

Primary localized cutaneous nodular amyloidosis (nodular amyloidosis) is a rare and distinct type of amyloidosis, in which amyloid L deposition is limited to the skin and typically manifested as a tumefactive nodule on the acral sites. However, the definite cause of nodular amyloidosis is still unknown. Although it is relatively well known that the amyloid deposits in nodular amyloidosis originate from immunoglobulin light chains secreted by local plasma cells, traumatic injury to the skin has rarely been recognized as a triggering factor of nodular amyloidosis. Herein, we present a case of a 50-year-old male patient with primary localized cutaneous nodular amyloidosis, which occurred after local trauma, and discuss the relationship between traumatic damage and dermal amyloid L deposition.     

原发性系统性淀粉样变病1例

患者男,69岁。躯干部散在瘀斑1年余。皮肤科情况:面部、颈部、躯干部、双上肢伸侧散在大小不等紫红色斑,压之不退色,颈部、双上肢伸侧可见紫红色结节,有蜡样光泽,触之质韧。骨髓检查示骨髓增生低下,浆细胞比值增高,占7%。皮肤组织病理检查示:真皮浅层血管周围大量均一红染物质,刚果红染色阳性。诊断:原发性系统性淀粉样变病。     

Primary Cutaneous Plasmacytosis: Masquerading as Hidradenitis Suppurativa

Isolated cutaneous plasmacytosis (CP) is a rare entity with few cases reported in world literature. CP masquerading as hidradenitis suppurativa like presentation is a unique case with some features differentiating it clinically from it which were further confirmed by histopathology and immunostaining. Our case showed hyperplasia of mature plasma cells and polyclonal hypergammaglobulinemia, immunostaining for CD138 positivity and kappa: lambda ratio more than 3:1. Extensive clinical and laboratory investigations failed to reveal any underlying pathology, presence of any underlying disease accompanying the hypergammaglobulinemia and/or plasma cell proliferation.     

OSMR基因突变与原发性皮肤淀粉样变174例的临床表型分析

目的探讨OSMR基因突变与原发性皮肤淀粉样变(PCA)临床表型的相关性。方法收集174例PCA患者和52例正常对照组的外周血进行OSMR基因11~15号外显子的一代测序,并对其临床资料进行统计、分析。结果 174例PCA患者中,35.63%的患者有家族史,64.37%的患者无家族史,平均发病年龄为(31±12.69)岁,20~29岁为其发病的高峰年龄段(31.03%);苔藓样皮肤淀粉样变(LA)(75/56)与斑状皮肤淀粉样变(MA)(16/27)中的男女比例差异有统计学意义(P=3.51×10^-2);LA患者较MA患者更易伴发瘙痒(P=1.60×10^-2);174例PCA患者中,36.78%有OSMR基因突变,其中OSMR基因p.Gly513Asp突变位点占总突变的84.38%,为高频突变位点;相对于无OSMR基因突变的PCA患者的发病年龄(32.63±13.50)岁来说,有OSMR基因突变的PCA患者的发病年龄(28.58±10.90)岁更低(P=4.30×10^-2);对有OSMR基因突变(包括p.Gly513Asp、p.Gly513Asp纯合位点、p.Gly513Asp杂合位点等)与无OSMR基因突变的PCA患者的临床资料进行比较分析发现,家族史(P<1.00×10^-3)、性别(P=4.20×10^-2)、皮损范围(P=1.50×10^-2)差异具有统计学意义;对有OSMR基因p.Gly513Asp位点突变(纯合突变及杂合突变)与无OSMR基因突变的PCA患者的临床资料进行比较分析,发现家族史(P=1.00×10^-3)、性别(P=0.02)、皮损范围(P=6.00×10^-3)差异具有统计学意义;有OSMR基因突变与无OSMR基因突变相比,患者的临床分型(LA与MA)、瘙痒比例差异无统计学意义(P>0.05)。结论 OSMR基因突变(p.Gly513Asp纯合位点)与PCA患者的家族史、性别、皮损范围、发病年龄具有相关性。     

Systemic Scleroderma Associated with Graves' Disease

We describe a case of systemic scleroderma associated with Graves' disease and review six previously described cases associating the two diseases. Our case seems to be unique in that Graves' disease preceded the occurrence of systemic scleroderma.     

原发性皮肤淀粉样变在共聚焦激光扫描显微镜下的表现

目的研究原发性皮肤淀粉样变的共聚焦激光扫描显微镜(CLSM)的表现,形成原发性皮肤淀粉样变成像的基本概念。方法选取在本院就诊的37例临床诊断为原发性皮肤淀粉样变的患者,选定患者的皮损进行共聚焦激光扫描显微镜扫描,再取该处皮损做组织病理检查,对这两者进行比较分析。结果皮损处CLSM图像显示真皮乳头呈现折光较高的云雾状团块,其内可见折光较高点状、棒状、丝状等物质,还可见环状真皮乳头增大,出现多形性,真皮浅层可见炎症细胞浸润。结论获得了原发性皮肤淀粉样变的影像学特征,能够辅助原发性皮肤淀粉样变的临床诊断及鉴别诊断。