可变性红斑角化病1例

1 病历摘要患者男,20 岁.因面部、四肢红斑伴瘙痒20 年于2011 年3月31 日至我院就诊.患者自出生后半年起,面部、四肢出现片状红斑脱屑,并逐渐扩大,部分红斑可在几天内自行消退,皮损形态、大小随季节发生变化,多在冬季加重,夏季可完全缓解.自觉中学时皮损最为严重,后随年龄的增长有所改善.一直按湿疹治疗,外用各种药物(具体不详)治疗效果不佳.父母非近亲结婚,患者系足月顺产,家族中无类似疾病.     

可变性红斑角化病1例

可变性红斑角化病是一种罕见的遗传病.我科收治1例典型病例,但无阳性家族史,现报告如下.患者男,22岁.因全身起红斑、脱屑伴瘙痒20年余,于2009年4月7日来我科门诊就诊.患者3个月大时于双上肢出现红斑,上覆少许鳞屑,伴明显瘙痒,于当地各医院就诊,给予治疗后(具体药物不详)无明显好转,并蔓延至四肢、面部,逐渐加重.     

可变性红斑角化症1例

患者女,24岁。四肢臀部斑片23年。查体:四肢及臀部可见边界清楚的棕红色角化过度性斑片,双手、足角化过度,轻度脱屑。皮损组织病理示:表皮角化过度,棘层肥厚,真皮非特异性炎症细胞浸润。诊断:可变性红斑角化症。     

可变性红斑角化症1例

患者男,39岁,出生1月后躯干部及四肢出现风团样红斑,后双膝、手足及臀部相继出现角化性斑块,天冷时皮损加重,无明显痒痛感。皮肤组织病理:表皮角化过度,轻度棘层增厚,真皮乳头层血管周围见稀疏单一核细胞浸润。诊断:可变性红斑角化症。     

可变性红斑角化症1例

患者女,38岁,因下肢游走性角化性红斑20年,于2004年2月至我科就诊,患者20年前首先在左大腿仲侧出现红斑,偶痒,后皮疹逐渐增大,增厚,脱屑,由圆形变为不规则形,渐向下发展累及膝关节,夏重冬轻;2个月后,右小腿中段伸侧出现类似皮疹,逐渐增大,斑块由圆形变为不规则形,数年内部分皮疹消退,部分皮疹向下蔓延至踝关节背面,掌跖部皮肤干燥,粗糙,     

可变性红斑角化症1例

患者女,13岁。全身出现红斑、无痛痒10年。皮损组织病理示表皮角化过度,颗粒层增生,棘层肥厚,皮突延长,真皮浅层血管、附属器周围散在淋巴细胞浸润,呈非特异性炎症改变。诊断:可变性红斑角化症。     

可变性红斑角化症1例

患者男,39岁,出生1月后躯下部及四肢出现风团样红斑,后双膝、手足及臀部相继出现角化性斑块,天冷时皮损加重,无明显痒痛感。皮肤组织病理：表皮角化过度,轻度棘层增厚,真皮乳头层血管周围见稀疏单一核细胞浸润。诊断：可变性红斑角化症。     

可变性红斑角化症1例

患者男,15岁。因躯干、四肢皮肤红斑及丘疹10年,于2004年7月28日至我院就诊。10年前患者四肢,躯干出现片状干燥性红斑,并逐渐扩大,呈环状或不规则地图状,外用各种药物（不详）治疗效果不佳。皮损形态、大小随季节发生变化,多在冬季加重,夏季减轻,     

阿维A治疗可变性红斑角化病2例

报告2例可变性红斑角化病.婴儿与成人各1例.皮损均表现为地图状角化性红斑,组织病理显示角化过度,棘层轻度增生肥厚,真皮浅层非特异性炎性细胞浸润.根据临床和组织病理诊断明确.给予小剂量阿维A口服,治疗后皮损较前明显好转,患者均无明显不适反应.因此该文认为,小剂量阿维A治疗可变性红斑角化病安全有效.     

可变性红斑角化症1例

临床资料 患者，男，23岁。全身皮肤发干，脱皮22年余，于2003年3月24日就诊，患者于出生后100天开始，前胸皮肤发干、脱皮，以后逐渐发展扩大，     

可变性红斑角皮病的分子遗传学进展

可变性红斑角皮病是一种罕见的常染色体显性遗传性皮肤病,以可变的片状红斑和固定的角化过度性斑快为特征,主要由GJB3和GJB4基因突变引起,具有遗传异质性。近年来对可变性红斑角皮病的分子遗传学的研究,包括基因定位与结构、编码蛋白的结构与功能、突变分析以及对功能的影响均取得了很大进展,为该病基因诊断与治疗创造良好的条件。     

Progressive symmetrical erythrokeratodermia - Case report

Progressive symmetrical erythrokeratodermia is a rare autosomal dominant genodermatosis with variable penetrance described by Darier in 1911. It is characterized by erythematous and keratotic plaques, sharply defined and symmetrically distributed along the extremities, buttocks and, more rarely, on the face. We report a case of a 55-year-old patient with lesions on the dorsum of the hands, interphalangeal pads, wrists, groin and back feet. This case demonstrates a rare and late diagnosis, clinical profusion and presence of familiar involvement.     

多变根毛霉致原发性皮肤毛霉病1例及分子生物学鉴定

目的：报告多变根毛霉致原发性皮肤毛霉病1例及其诊断过程。方法：对1例面部进行性溃烂伴疼痛2年,加重3月的37岁男性患者进行了皮损真菌镜检、培养、组织病理检查,并提取真菌DNA,以真菌通用引物ITS4和ITS5进行PCR扩增。结果：直接镜检及组织病理均发现透明宽大无隔菌丝;真菌培养25℃7天于沙氏培养基（SDA）上生长黄色绒毛状菌落,镜下见透明无隔宽大菌丝,呈直角分叉,见孢子囊及假根。PCR扩增真菌DNA,获得614bp片段,经比对与多变根毛霉具有99%同源性。结论：该病例诊断为＂多变根毛霉所致原发性皮肤毛霉病＂。多变根毛霉可致原发性皮肤毛霉病,分子生物学方法在鉴定真菌致病菌种方面具有准确、快速的作用。     

Erythrokeratodermia Variabilis Present at Birth: Case Report and Review of the Literature

Abstract: A healthy boy had the distinctive lesions of erythrokeratodermia variabilis (EKV) at birth. Twenty-eight patients described in the literature had EKV that presented in childhood. Nine of the 28 were said to have had a rash since birth, but none were distinctive of EKV. To our knowledge this is the first well-documented case describing a child born with the skin manifestations of EKV. We conclude that patients with EKV are infrequently born with a rash, and that only very rarely when the rash is present is it suggestive of the disorder.     

Erythrokeratodermia variabilis (EKV) – eine Störung der epidermalen Expression von Gap‐Junction‐Proteinen

Erythrokeratodermia variabilis (EKV) is a rare autosomal dominant genodermatosis with disturbed epidermal differentiation. Its clinical picture varies from transient, fast moving erythema to persistent brown hyperkeratoses. The gene defect in EKV was recently located on the short arm of chromosome 1 encoding the gap junction protein connexin 31. We report on a 48‐year‐old patient with sharply circumscribed, scaling erythema on the extremities, buttocks and trunk starting since 30 years of age. Histological investigation showed orthokeratotic hyperkeratosis with focal parakeratosis overlying an acanthotic epidermis. Immunohistochemistry revealed a decreased expression of the gap junction protein connexin 31 as well as increased expression of connexin 43. At the ultrastructural level, widened intercellular spaces in the upper epidermis were present with regular desmosomes, adherens junctions and gap junctions. Epidermal cell proliferation and differentiation are regulated by gap junctions. The mutation in connexin 31 is regarded therefore as causal for the clinical picture of the EKV. The unique up‐regulation of connexin 43 may occur as a consequence of the Cx31 mutation and temporarily compensate for this defect.     

Epidermal Langerhans cells in erythrokeratodermia variabilis

Summary The distribution of epidermal Langerhans cells (LC) in erythrokeratodermia keratodermia variabilis (EKV) was investigated using enzyme-histochemical (ATPase) and immunohistochemical (anti-T6 and anti-HLA-Dr) techniques. Biopsy specimens from lesional skin of five patients were examined before and 8 weeks after treatment with etretinate (RO 10-9359). In addition, electron microscopy studies were carried out in two of these cases.The number of ATPase-positive dendritic cells in lesional epidermis appeared to be remarkably reduced in comparison with normal skin from healthy subjects. After treatment, the number of ATPase-positive dentritic cells had increased but still remained below normal values. Similar but less striking results were found for anti-T6-stained specimens. The HLA-Dr antigen appeared to be unsuitable as a marker for comparative quantitative studies because of the highly variable expression of this antigen in the control specimens. Electron microscopy studies revealed LC in the basal and suprabasal layers of the lesional epidermis. Both before and after treatment, the LC exhibited a normal ultrastructure.In view of the clinical and histologic normalization of the skin lesions during treatment, these findings suggest that the decreased number of epidermal LC may be related to the abnormal keratinization that occurs in EKV.     

进行性对称性红斑角化症1家系报道

患者女,26岁。出生后6个月发病,双手、足对称性红斑角化25年。体检:一般情况良好。双侧掌跖及腕关节屈侧对称性分布边界清楚的角化性红斑,边缘覆以少许脱屑,压之不褪色,指/趾甲均未受累。实验室检查未见异常。手背侧缘皮损组织病理示:表皮明显角化过度,伴轻度角化不全,颗粒层及棘层肥厚,表皮增生至同一水平线,真皮小血管轻度扩张充血,管周少量淋巴细胞浸润。诊断:进行性对称性红斑角化症。     

多变根毛霉对小白鼠的致病性研究

用１０只健康小白鼠对多变根毛霉规则变种进行致病性研究。结果表明１０只小白鼠的脑组织病理切片在接种后７、１４、２１、２８和３５天均显示有多数宽大、无分隔的菌丝，但培养仅在第７天时阳性。其它内脏器官组织病理切片未发现真菌菌丝。