表皮松解性角化过度鱼鳞病1例

患儿男,22天。出生时周身皮肤潮红、大疱,伴脱屑。组织病理示角化过度,中度棘层肥厚,颗粒层和棘层上部细胞内透明角质颗粒粗大、深染而不规则,明显的空泡形成,见网状变性、表皮内水疱和棘层松解细胞,棘层下部和基底细胞层无异常。诊断:表皮松解性角化过度鱼鳞病。     

先天性非大疱性鱼鳞病样红皮病伴多指畸形1例

报告1例先天性非大疱性鱼鳞病样红皮病伴多指畸形。患儿男,八个月。自出生第二天即全身皮肤潮红,逐渐出现鳞屑并呈羊皮纸样包裹,伴有睑外翻及多指畸形。组织病理：中度角化过度,局灶性角化不全,颗粒层增厚,中度棘层肥厚,真皮上部有慢性炎症浸润。     

先天性非大疱性鱼鳞病样红皮病伴多指

报告1例先天性非大疱性鱼鳞病样红皮病伴多指畸形.患儿男,八个月.自出生第二天即全身皮肤潮红,逐渐出现鳞屑并呈羊皮纸样包裹,伴有睑外翻及多指畸形.组织病理:中度角化过度,局灶性角化不全,颗粒层增厚,中度棘层肥厚,真皮上部有慢性炎症浸润.     

阿维A治疗前后大疱性鱼鳞病样红皮病皮损组织病理和细胞超微结构比较

目的 探讨阿维A对大疱性鱼鳞病样红皮病组织病理和细胞超微结构的影响以及调控此类疾病趋向于正常角化过程的机制。方法 应用光镜及透射电镜观察4例大疱性鱼鳞病样红皮病患者阿维A治疗前后皮损的组织学及细胞超微结构改变。结果 治疗后4例患者临床皮损改善均超过75%,其中1例治疗后临床皮损改善达90%。4例患者组织学及超微结构均显示为角质层角化过度改善明显,角质化包膜的连续性有所改善,同时棘层及颗粒层角蛋白异常聚集的现象不同程度减轻,棘细胞增生与棘突松解现象则改善不明显。结论 大疱性鱼鳞病样红皮病患者经阿维A治疗后临床皮损改善明显,组织学及超微结构的改善主要在角质层,阿维A调节角质形成细胞的正常角化作用在角质层及颗粒层表现的更为明显。     

板层状鱼鳞病二例

2例具有板层状鱼鳞病的典型皮损,全身皮肤灰褐色或灰棕色鳞屑,呈菱形、多角形或成大片,中央黏着,边缘游离高起,部分厚如铠甲.2例均有不同程度的眼睑、唇外翻及掌跖中度角化过度.例2皮损组织病理检查:角化过度,棘层及颗粒层增厚,表皮突延长,真皮浅层血管周围少量炎性细胞浸润.2例均口服阿维A胶囊,经尿素乳膏及鱼肝油软膏外用后,症状较前缓解.     

消息

表皮松解性角化过度型鱼鳞病(EHK)是一种常染色体显性遗传性皮肤病，临床表现为出生时即有水疱、鳞屑及红皮症．以后发展为广泛的角化过度。病理表现为典型的棘层松解角化过度。连锁分析及转基因动物证实该病为角蛋白K1或K10基因突变所致。由角蛋白K2e突变引起的称为Siemens大疱性鱼鳞病(IBS)，是EHK的一种特殊类型。现将我科近年来对EHK患者基因突变检测情况做一总结，旨在探讨其基因型与表型的关系，为角蛋白结构与功能之间的关系提供间接证据。     

获得性鱼鳞病研究进展

获得性鱼鳞病在临床和组织学上类似于常染色体显性遗传性寻常型鱼鳞病，但生物学表现不同。前者主要表现为皮肤干燥、粗糙和显著的鳞屑；组织病理检查显示：表皮角化过度，颗粒层变薄或缺失。获得性鱼鳞病与多种系统性疾病和某些药物有关，治疗上主要是消除致病因素和对症处理。     

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     

表皮松解角化过度性鱼鳞病1例

患者男,23岁,全身皮肤潮红、粗糙、水疱和脱屑23年。皮损组织病理示:表皮角化过度,颗粒层增厚,颗粒层细胞内含大量透明角质颗粒,细胞核皱缩,核周空泡化,细胞边界不清,形态不规则,呈表皮松解性角化过度改变。诊断:表皮松解角化过度性鱼鳞病。     

表皮松解性角化过度鱼鳞病一例

5岁女性患儿,全身皮肤潮红5年,出现干燥及角化增厚4年。皮损组织病理示:表皮显著角化过度,颗粒层细胞内见不规则的透明角质颗粒呈空泡样变性改变,棘层不规则增厚,真皮浅层血管周围少量炎性细胞浸润。基因突变检测示KRT10位点突变,基因编码区478号碱基由T变为A。诊断:表皮松解性角化过度鱼鳞病。给予局部外用0.1%维A酸乳膏每日2次及皮肤保湿剂治疗,40 d复诊时皮损明显好转,全身皮肤基本正常。     

Lambert型豪猪状鱼鳞病的光镜及电镜分析

目的：观察Lambert型豪猪状鱼鳞病的组织病理和电镜表现。方法：观察一Lambert型豪猪状鱼鳞病家系，并对皮损组织做光镜和电镜观察。结果：光镜下可见颗粒层和棘细胞上层多数双核细胞及核周厚薄不均连续的包壳结构；电镜下可见包壳结构由张力微丝组成。结论：Lambert型豪猪状鱼鳞病的显微结构，即棘细胞上层的双核细胞和核周张力微丝壳，与Curth-Macklin型豪猪状鱼鳞病相似。     

Congenital ichthyosis with hypogonadism and growth retardation — a new syndrome with peculiar ultrastructural features

Summary A male patient presented with a congenital ichthyosis clinically characterized by generalized erythroderma, fine scaling on the trunk and palmoplantar hyperkeratoses with severely affected nails. The acanthotic epidermis was characterized by hyperproliferation with a large quantity of mitoses and extremely suppressed keratinization without a normal granular layer. The horny layer was parakeratotic and contained remnants of cell debris and lipid droplets. Ultrastructurally the prickle cell layer was characterized by binuclear cells, oedematization of the keratinocytes and isolated dyskeratotic cells. Some suprabasal cells showed unusual morphological features, containing nuclei with cytoplasmic pseudoinclusions, sometimes leading to a complete disintegration of the nuclear structure, and bowl- and lens-shaped accumulations of a filamentous material. Instead of normal tonofibrils, the aggregated material consisted of fine interlacing filaments. The latter are compared with the filamentous shells in ichthyosis hystrix Curth-Macklin and congenital reticular ichthyosiform erythroderma. The clinical symptomatology — congenital ichthyosis, growth retardation, secondary hypogonadism, hepatomegaly — and the ultrastructural characteristics of the keratinization disorder indicate that the present case cannot be considered as a subtype of the recessively inherited ichthyosis congenita group, but suggest a new syndrome as a separate nosologic entity.     

典型幼年型毛发红糠疹1例

患儿男,9岁,全身泛发红斑、细碎鳞屑18个月,家族中无类似患者。左下肢组织病理示:角化过度,角质层内水平及垂直方向交替存在着角化过度和角化不全,颗粒层增厚,棘层不规则肥厚,基底层细胞液化变性,真皮内有轻度淋巴细胞浸润。诊断:毛发红糠疹。     

回旋形线状鱼鳞病一家系调查

报告1例回旋形线状鱼鳞病患者的家系调查,该家系3代14人中仅有母女2人患病。2例患者均表现为出生后不久全身出现泛发性环形红斑和鳞屑,掌跖角化过度,无毛发异常。组织病理学检查显示:表皮轻度疣状增生,颗粒层变薄,棘层肥厚,角化过度等非特异性改变。     

Histologic and ultrastructural features of the ichthyotic skin in X-linked dominant chondrodysplasia punctata

The ichthyotic skin in X-linked dominant chondrodysplasia punctata was investigated in a four-week-old baby and a fourteen-year-old girl. Histologically, the ichthyosiform erythroderma of the newborn and the ichthyosis of the older child presented as a retention hyperkeratosis with several distinctive features such as calcification of the keratotic follicular plugs, atrophy of the hair follicles and focal hyperpigmentation of the basal keratinocytes. On ultrastructural examination, small to medium sized vacuoles were regularly seen in the thinned granular layer. Some of these vacuoles contained needle-like calcium inclusions. The histologic and ultrastructural findings are therefore characteristic for this rare type of ichthyosis.     

Ichthyosis with laminated membrane structures

Clinical, light-microscopic, and electron-microscopic features of a new type of ichthyosis are presented. The ichthyotic disease of a 75-year-old woman appeared in early childhood as dry and scaly skin. It slowly progressed to thickened and folded hyperkeratosis on her neck and axillae. The skin on the other parts of her body was shiny, red and hard. Her physical development was normal. Light microscopy showed acanthosis and papillomatosis with hyperkeratosis. The granular cells were vacuolated. Electron microscopy revealed diagnostic changes, i.e., concentric or parallel lamellar membrane structures and amorphous material in upper epidermal cells. Corresponding lamellar material was also seen in the cornified cells. The keratinosomes were abnormal and a hypothesis is presented indicating that a defect in keratinosome formation results in vacuolization and abnormal desquamation in this disease. According to the current classification, the present type of ichthyosis is one subgroup of lamellar ichthyosis. We have called it ichthyosis with laminated membrane structures, because they are electron-microscopically diagnostic. The mode of inheritance is unknown.     

Ichthyosis bullosa of Siemens: A unique type of epidermolytic hyperkeratosis

We report the second family of ichthyosis bullosa, an entity that was first described by Siemens in 1937 and since then has fallen into oblivion. Clinically, ichthyosis bullosa is characterized by blistering resembling epidermolysis bullosa simplex and by generalized, yet circumscribed dark gray hyperkeratoses covering mainly the arms and the legs. Lichenification and superficially denuded areas (mauserung) are further prominent features. Histology disclosed intracorneal blister formation corresponding to the mauserung phenomenon and epidermolytic hyperkeratosis that was confined to the granular layer and to the uppermost layers of the prickle cells. On electron microscopic examination the keratinocytes of these layers displayed structural alterations of tonofilaments as usually observed in epidermolytic hyperkeratosis. Thus ichthyosis bullosa shares with bullous ichthyosiform erythroderma blistering and epidermolytic hyperkeratosis, but can be distinguished from this wellknown disease by the lack of erythroderma, by the mauserung phenomenon, by the confinement of acanthokeratolysis to the superficial layers of the epidermis, and by intracorneal blistering.     

Histopathological and immunohistochemical assessment of acquired ichthyosis in patients with human T-cell lymphotropic virus type I-associated myelopathy

BACKGROUND: Patients with human T-cell lymphotropic virus type I (HTLV-I)-associated myelopathy frequently display cutaneous alterations such as acquired ichthyosis. OBJECTIVES: Elucidation of the pattern of acquired ichthyosis in HTLV-I-associated myelopathy. METHODS: Skin fragments from 10 patients with HTLV-I-associated myelopathy presenting with acquired ichthyosis were assessed by histopathological and immunohistochemical tests. We used anticytokeratin antibodies related to normal keratinization (K1/K10), and others related to cutaneous conditions such as activation, migration and hyperproliferation of keratinocytes (K6/K16), and involucrin, a precursor protein in the formation of the protein envelope in keratinocytes. For quantification of the proliferating basal and parabasal cells the anti-Ki-67 antibody was employed. RESULTS: On light microscopy, all skin specimens displayed orthokeratotic hyperkeratosis and hypogranulosis. Three of them presented focal parakeratosis. A slight to moderate perivascular infiltrate of mononuclear lymphocytes was observed in seven cases, three of which showed discrete spongiosis with epidermotropism of lymphocytes. All fragments displayed coexpression of K1, K10 and K16 in the suprabasal layers. Expression of involucrin was also observed in all cases, in the upper spinous and granular layers. Focal expression of K6 was observed in three cases, under a parakeratotic area. The mean number of Ki-67+ basal and parabasal cells was 3.5 cells per mm, similar to that in control skin. CONCLUSIONS: In acquired ichthyosis related to HTLV-I-associated myelopathy, histopathology revealed orthokeratotic hyperkeratosis and a perivascular inflammatory infiltrate of mononuclear lymphocytes, with areas of parakeratosis and foci of epidermotropism in rare cases. The expression profiles of K1, K10 and involucrin were similar to those in normal skin. The diffuse coexpression of K16 with K1 and K10 throughout the analysed epidermis, as well as the occurrence of restricted areas of parakeratosis expressing K6, indicate the presence of keratinocyte activation with induction of the alternative keratinization pathway, probably dependent on the cytokines liberated by the mononuclear cells of the dermal inflammatory infiltrate infected with HTLV-I. The absence of acanthosis and of increased cellular kinetics, as shown by the low rate of Ki-67 antigen expression, allow the inference that the pattern of acquired ichthyosis related to HTLV-I-associated myelopathy may be retentional. The observation of foci of parakeratosis expressing K6 in three specimens suggests that, at least in certain areas and in some cases, interference with epidermal differentiation and maturation occurs.     

Ultrastructural features resembling those of harlequin ichthyosis in patients with severe congenital ichthyosiform erythroderma

Congenital ichthyoses are a group of heterogeneous disorders of cornification. Autosomal recessive congenital ichthyosis (ARCI) can be clinically subdivided into congenital ichthyosiform erythroderma and lamellar ichthyosis. Ultrastructurally, ARCI is classified into four groups: ichthyosis congenita (IC) types I-IV. The genetic background of the ARCI disorders is heterogeneous, but only one disease gene, transglutaminase 1, has been detected so far. We describe six patients with severe congenital ichthyosis from six different Scandinavian families. They could not be classified ultrastructurally into the four IC groups because of atypical findings of electron microscopy. These included abnormal lamellar bodies, alterations in keratohyalin, remnant organelles and lipid inclusions in the upper epidermal cells, which resembled the ultrastructural findings of harlequin ichthyosis (HI), although the HI phenotype was not present at birth. Some clinical features, such as thick scales, erythroderma, alopecia and ectropion were common to all patients. Ichthyosis was usually accentuated in the scalp and four patients had clumped fingers and toes. None of the patients carried the transglutaminase 1 mutation. We conclude that ultrastructural findings resembling those detected in previous HI cases (type 1 and 2) can also be found in patients who do not have classic clinical features of that rare ichthyosis. This may be due to lack of specificity of ultrastructural markers for HI or to its clinical heterogeneity.