四种遗传性鱼鳞病临床表型和组织病理的比较研究

目的：比较四种鱼鳞病（寻常型鱼鳞病；X-连锁鱼鳞病；板层状鱼鳞病；大疱性鱼鳞病）临床表型和组织病理的差异。方法：对鱼鳞病患者进行临床表型分析、皮损组织病理和电镜检测。结果：1．寻常型鱼鳞病：浅褐色多角形鳞屑，组织病理角化过度伴局灶性角化不全，颗粒层变薄；电镜示透明角质颗粒数量减少且结构异常。2．X-连锁鱼鳞病：粗大深褐色鳞屑，组织病理中度角化过度，颗粒层正常或稍增厚。3．板层状鱼鳞病：粗大黑色板样鳞屑，组织病理致密板层状角化过度伴灶性角化不全，局灶颗粒层增厚，棘层不规则增生肥厚；电镜示角质包膜异常。4．大疱性鱼鳞病：棕色疣状鳞屑，组织病理致密角化过度，颗粒层显著增厚，颗粒层及棘层中上部细胞核周空泡改变。电镜可见异常角蛋白分布于基底层以上全部表皮，棘细胞松解，颗粒层细胞核周围有异常聚集的角蛋白丝。结论：四种鱼鳞病患者临床表型、组织病理和严重程度有明显差异。     

豪猪状鱼鳞病

报告1例豪猪状鱼鳞病。患儿男,13岁。全身丘疹7年余,无自觉症状。皮肤科检查:面颈部、躯干、四肢可见密集分布针尖至绿豆大的褐色、肤色乳头状丘疹,皮损间偶见正常皮肤。皮损组织病理检查:表皮角化过度,棘层肥厚,表皮突延长,基底层色素增加,真皮浅层少数炎性细胞浸润。外显子基因组测序提示FLG,HRNR等基因突变。诊断:豪猪状鱼鳞病。     

天疱疮皮损的电镜观察

本文报道了1例寻常型天疱疮患者皮损处的电镜观察结果.棘层松解发生于表皮基底层之上方,此处两相邻棘细胞之间连接疏松,桥粒处细胞间隙增宽,张力微丝消失.棘细胞表面平坦,核形不规则,线粒体空泡变性,核周呈淡染之晕轮.天疱疮的免疫复合物干扰了棘细胞外粘合物质的形成和保持,也影响棘细胞本身的生理功能,最终导致棘层松解,大疱形成.     

皮肤Merkel细胞癌3例

目的：报告3例皮肤Merkel细胞癌，进一步了解该肿瘤的临床表现、组织病理学特点和电镜观察的特征。方法：采用光镜、免疫组化和电镜技术，对3例患者的皮损进行组织病理学观察及诊断。结果：光镜检查示肿瘤位于真皮内，呈团片状、巢状、岛状或散在分布，细胞大小较一致。免疫组化示NSE、CgA、Sy、EMA、α—ACT在肿瘤细胞呈阳性表达。电镜观察示肿瘤细胞胞质内可见神经分泌颗粒。结论：皮肤Merkel细胞诊断依赖病理学检查，早期诊断、早期治疗是提高生存率的关键。     

角蛋白10的功能与相关皮肤病

角蛋白10(keratin 10,K10)为Ⅰ型角蛋白,由KRT10基因编码,与Ⅱ型角蛋白K1配对组装成角蛋白丝,是表皮的主要结构蛋白.KRT10基因突变可导致表皮松解角化过度症、豪猪状鱼鳞病、雪花状鱼鳞病等多种遗传性皮肤病,K10也参与银屑病、毛发红糠疹、特应性皮炎等炎症性皮肤病的发病机制中.K10的功能远不只是作为...     

表皮内透明细胞肿瘤

图1的皮损组织病理特征为：①表皮角化过度,伴有角化不全,棘层肥厚。②表皮的大部分由胞质透明的细胞组成,细胞排列紊乱,细胞大小不一,形态各异,部分细胞未见细胞核,或细胞核偏于一侧,可见双核或多核细胞及核丝分裂像。③表皮下1/5（包括基底细胞层）未见异常。④真皮中上部血管扩张,有以淋巴细胞为主的炎性细胞浸润。免疫组化染色结果示,表皮内透明细胞细胞角蛋白（CK）阳性,HMB45,S-100蛋白及CEA阴性。     

棘状秃发性毛发角化病

报告1例棘状秃发性毛发角化病.患者男,22岁.因头皮弥漫性毛囊角化性丘疹伴脱发10余年就诊.皮肤科检查:头皮弥漫性瘢痕性脱发和毛囊角化性丘疹,并可见散在分布细小和稀疏的头发.组织病理检查可见表皮毛囊角化过度和轻度的毛囊周围纤维化,毛囊和血管周围有少量慢性炎性细胞浸润.结合临床和组织病理检查,符合棘状秃发性毛发角化病的诊断.临床上,该病需与棘状秃发性毛囊炎、毛囊性鱼鳞病伴脱发和畏光综合征(IFAP)、角膜炎-鱼鳞病-耳聋综合征(KID综合征)和无萎缩脱毛性毛发角化病等病鉴别.     

基底细胞癌的电镜观察

本文报道了5例基底细胞癌的电镜观察.电镜下细胞数量多,排列密集.细胞之间的连接方式以紧密连接和中间连接为主,和正常上皮相比,基底细胞癌的桥粒虽然存在,但其数量明显减少,发育不成熟,结构不正常,电子密度也低.可见少数核丝分裂相.在色素性基底细胞癌中可见色素细胞或噬色素细胞.电镜结果提示基底细胞癌来源于上皮细胞,但保留了上皮胚芽时期的某些形态特征.     

母女同患Olmste综合征

例1女,2月龄,全身起角化性斑块近2个月。体检：眶周、口周、外阴、肛周可见片状境界较清楚角化性暗红色斑块,厚层鳞屑,局部见轻度浸渍,双足及双手掌可见黄色厚痂、皲裂。例2女,例1的母亲,24岁,口周、肛周角化性斑块,先天性普秃,双手足指(趾)残毁至指(趾)末端,残毁端见大量黄色肥厚性、角化性痂屑。例1臀部皮损组织病理检查：表皮呈银屑病样增生,真皮乳头及浅层血管周围可见不等量炎性细胞浸润。免疫组化：AE1在表皮棘层颗粒层染色阳性,CK10在棘层上部和颗粒层阳性。电镜检查：细胞间距增大,张力丝减少。诊断：母女同患Olmsted综合征。     

常染色体显性板层状鱼鳞病:一种新型先天性鱼鳞病的超微结构特征

板层状鱼鳞病或称无大疱性先天性鱼鳞病至今被认为是一种常染色体隐性遗传的单基因性疾病。通过脂质化学分析,WiIliams等近来提出鉴别红皮病型与非炎症型常染色体隐性遗传的板层状鱼鳞病(ARLI)是可能的。作者最近见到一个家族连续三代遗传的4例板层状鱼鳞病患者,从而为第三型无大疱性先天性鱼鳞病一常染色体显性板层状鱼鳞病(ADLI)提供了遗传性证据。作者研究了2例ADLI患者(一例9岁的女孩和其27岁的母亲)的皮肤组织学。光镜:表皮棘层增厚及轻度乳头瘤状,覆以明显的过度角化,伴灶状角化不全,颗粒层增厚,甚至在角化不全部位亦然,在基底细胞层见到少数规     

Ultrastructural features of ichthyosis hystrix strongly resembling Lambert type

Ichthyosis hystrix (IH) is characterized by spiny hyperkeratotic scale, and includes Brocq type, Lambert type, Curth–Macklin type, Rheydt type and Bäfverstedt type. The first documented cases of familial IH were of Lambert type. However, the ultrastructural features of IH Lambert type have not been reported. Three patients in two generations of a family from north China were observed. The patients showed widespread verrucose lesions without blister formation. The face, palms and soles were unaffected. This presentation strongly resembled IH Lambert type. The lesions faded dramatically in summer, without treatment. Light microscopic examinations showed binuclear cells and shell formation in the granular and upper spinous layers in all specimens, with similar findings in winter, when lesions were prominent, and in summer, when lesions had subsided. Electron microscopic examination revealed binuclear keratinocytes and concentric, thin to thick, unbroken shells of tonofilaments surrounding the nuclei, and segregation of cytoplasmic components. This family is the first with familial IH strongly resembling Lambert type to be reported in China. Binuclear cells and tonofilaments shells surrounding the nucleus in upper keratinocytes were characteristic features, which were similar to those reported in IH Curth–Macklin type. The basic histopathological defects were not changed despite significant clinical improvement of the lesion.     

Extensive congenital bilateral epidermal naevus syndrome—a case report from Nigeria with ultrastructural observations

A case of an extensive congenital bilateral verrucous epidermal naevus syndrome is reported from Nigeria. No naevus cells were detected by both tight and electron microscopes. There was an exuberant epidermis with ultrastructural abnormalities of Leratinocuc degeneration in upper stratum spinosum, accumulation of highly electron–dense amorphous keratohyaline granules, and absolute deficiency of fibrous substance of intermediate-cell type in the stratum granulosum and the cornified layer.     

Ultrahistopathology of balanitis circinata.

Penile lesions from six patients with balanitis circinata were examined with the light and electron microscopes. The epithelium showed slight parakeratosis, acanthosis, and elongation of rete ridges. Neutrophil pustules occupied the upper epidermis. Prickle cells formed a spongiform net around the pustules. The most prominent features detected by the electron microscope were the small-to-medium-sized pustules in the upper epidermis. The thin flattened keratinocytes formed a sponge-like trabecular network. Neutrophils were not found inside the keratinocytes. Chlamydia were not present in the lesions, which indicates that balanitis circinata is due to some reactive mechanism. The fine structure of balanitis circinata resembles that of pustular psoriasis.     

The innermost cell layer of the outer root sheath in anagen hair follicle: Light and electron microscopic study

Summary To investigate cell differentiation in the outer root sheath (ORS) of the human anagen hair follicle, scalp skin specimens from individuals with normal hair were examined using light and electron microscopes. In the bulbar portion, the ORS was composed of two cell layers. The cells in the outer layer gradually increased in number upwards and finally underwent so-called trichilemmal keratinization, which proceeded toward the hair canal. On the other hand, the inner cells in the bulb formed a single cell layer along the outside of Henle's layer during cell differentiation; this unique layer was referred to as the innermost cell (IMC) layer of the ORS. With the use of hematoxylin and eosin stain, at the suprabulbar portion, where Henle's cells were keratinizing, an eosinophilic substance was deposited in the inner (Henle's) side of the IMC cytoplasm. The IMCs gradually became entirely eosinophilic and often produced keratohyaline granules. Ultrastructurally, the IMCs of the ORS showed an oblong shape forming a regularly arranged single-cell layer along the keratinizing Henle's layer and accumulated tonofilaments in the cytoplasm. They produced a few small electron-dense keratohyaline granules and were keratinized at the level at which Henle's layer still preserved its cell structure. From these findings, it is suggested that there are two types of keratinization of the ORS: trichilemmal keratinization and IMC keratinization.     

Histopathological study of transient acrodermatitis enteropathica due to decreased zinc in breast milk

Two children, one born prematurely and the other born at full term developed acrodermatitis enteropathica due to marginal or low levels of zinc in their mothers' breast milk. Skin from both patients was studied with light and electron microscopy. The most characteristic light microscopic features were parakeratosis, absence of the granular layer, and pallor of the upper epidermal cells. Normal flattening of the upper Malphighian cells did not occur. Electron microscopic examination revealed that keratohyalin was decreased to absent, and the upper malpighian cells were edematous with vacuoles and large numbers of ribosomes, but small numbers of tonofilaments. Large amounts of keratinosome-derived-lamellae were found in the intercellular spaces in the keratinization area. The keratinosome-derived-lamellae were focally intermingled with opaque lipid plaques or myelin figures, probably derived from keratinosomes. The electron microscopic findings show abnormal keratinization and suggest that it is related to a disturbance of keratinosome metabolism due to zinc deficiency.     

Electron Microscopic Studies of Harlequin Fetuses

Abstract: Four cases of harlequin fetus of various estimated gastational ages (16, 20, 21, 24 weeks) were examined by light and electron microscopy. When the epidermis was keratinized the following features were commonly found: hyperkeratosis with or without granular cells; dilated hair follicles with plugged keratin; a large number of dense or particle-cored granules In the upper malpighlan layer; absence of cementsomes (lamellar bodies); large vacuotes with peripherally located laminations; large mitochondria with vesicular or membranous cristae; and early formation of the marginal band in keratinocytea and abnormal formotion of the same in luminal cells of the acrosyringlum. A 16-week specimen had no sign of karatinization, which made It difficult to detect these abnormalities; however, it did have large mitochondria in the keratlnocytes. The mucous membrane of the lip was thickened but not keratinized.     

Introduction of a Fluorescence-microscopic Technique for the Detection of Eggs,Egg Shells,and Mites in Scabies

A technique using the fluorescence microscope can prove helpful in the laboratory diagnosis of scabies. Specimens from fifteen patients with scabies were used in this study. All of the specimens were embedded with glycerine instead of potassium hydroxide (KOH) solution. The specimens were examined at 0 min, 30 min, 1 hr, 6 hrs, 24 hrs, and one week after mounting under light and fluorescence microscopes. Specimens embedded with non-fluorescent glycerine were not clear immediately after mounting but became so after about 1 hr. Eggs and egg shells were easily counted in the specimens under the fluorescence microscope but were very hard to identify under the light microscope. Mites were absent in half of the specimens; only eggs and egg shells were present in those specimens found by the fluorescence microscope. The above findings suggest that the detection of egg shells by the use of fluorescence microscope may be helpful for the diagnosis of scabies, in particular with mite negative specimens. Slides prepared with non-fluorescent glycerine were more stable and could be preserved for a long time. However, this method is time-consuming and requires expensive equipment.     

A semiquantitative light and electron microscopic analysis of histopathologic changes in photochemotherapy-induced freckles

Summary Photochemotherapy (PUVA)-induced freckles were found in 25 patients (41%) who had received more than 1,000 J/cm² of PUVA. The patients had been treated with PUVA for more than 2 years, with more than 150 exposures before PUVA lentigines appeared on the thighs, the upper arm, the mid-lower arm, the waist, and the buttocks. The histopathology of these freckles was analyzed by light and electron microscopy. Light microscopy showed an increased amount of pigment and melanophages and increased numbers and size of melanocytes. The keratinocytes often displayed atypical features such as enlarged nuclei, giant size, or fibrillar degeneration. Homogenization of the papillary dermis was observed in 11 patients. The activation of melanocytes was confirmed electron microscopically, and pathological features such as large amounts of lipid droplets and lysosome-melanosome complexes within the melanocytes were seen. The Langerhans cells were mostly normal, whereas the keratinocytes showed cytolytic changes, fibrillar degeneration, and vacuolization. A close follow-up of patients with prolonged PUVA treatment is recommended.