遗传性皮肤病与妊娠

遗传性皮肤病包括单基因遗传性皮肤病和多基因遗传性皮肤病。经典遗传性皮肤病即单基因遗传性皮肤病,其遗传方式包括常染色体显性遗传、常染色体隐性遗传、X连锁隐性遗传、X连锁显性遗传。经典遗传性皮肤病目前尚无有效治疗手段,预防遗传性皮肤病的主要措施是减少患病胎儿出生。文中在介绍遗传性皮肤病的分类基础上,探讨不同种类和不同遗传方式的遗传性皮肤病在妊娠时应采取的对策。     

光动力治疗遗传性皮肤病相关非黑素皮肤癌的研究进展

遗传性皮肤病相关非黑素皮肤癌(non melanoma skin cancer, NMSC)是一类继发于遗传性皮肤病的皮肤恶性肿瘤,主要包括皮肤鳞状细胞癌和基底细胞癌,一般具有家族史,且呈早发、多发和易复发的特点。目前多采用手术治疗,但存在创伤大、易复发、耐受性差等缺点。光动力治疗可以靶向杀伤肿瘤和病理性增生组织,基于其破坏小、可靶向、可重复的优势,近年来已被广泛用于NMSC的治疗。本文就光动力在遗传性皮肤病相关NMSC的治疗进展进行综述。     

遗传性皮肤病的产前诊断

现在已经知道人类有2300多种遗传性疾病,大约有2%的婴儿出生时有严重缺陷.由于产前诊断技术的发展使许多遗传性疾病在产前作出诊断成为可能.将产前诊断技术应用于遗传性皮肤病是非常有意义的,它有助于防止某些遗传性皮肤病患儿的出生,展望不久的将来在宫内治疗遗传性皮肤病将成为可能.     

CO2激光治疗家族性慢性良性天疱疮4例

家族性慢性良性天疱疮(FBCP)是一种显性遗传性皮肤病，目前国内治疗以联合药物治疗为主，但不能使病情长期缓解。为寻找一种有效的治疗方法，我们使用CO2激光治疗了4例患者，总结报告如下。     

单纯型大疱性表皮松解症治疗研究进展

单纯型大疱性表皮松解症(EB)是一类罕见的遗传性皮肤病,目前治疗以改善患者生活质量的对症治疗为主,包括抗炎、止痒、止汗等药物治疗方向,另应用间充质干细胞、诱导性多能干细胞移植以及转录激活因子样效应物核酸酶、CRISPER/Cas9等技术的相关治疗手段取得了很大进展。     

遗传性皮肤病诊断思路

已报道的单基因遗传性皮肤病有300余种。一些遗传性皮肤病由于发病率相对较高,可达约1／10000,如结节性硬化症、神经纤维瘤病等,临床上诊断较容易;许多遗传性皮肤病由于发病率相对较低,属于少见病或罕见病,常存临床上带来诊断困难。如在临床上遇到尚不熟悉的遗传性皮肤病,笔者提出一些粗浅的诊断思路。     

对遗传性皮肤病的一些思考

【摘要】 遗传性皮肤病是皮肤科的一个重要分支。我国皮肤科学界在遗传性皮肤病领域取得了很多成绩，一批专业研究机构和团队已为人所知。新时代的社会和技术背景下，遗传性皮肤病的诊疗模式有待根据国家法规和社会需求等实现新的发展。本文分享作者对该领域的一些思考，以期对皮肤科医生研究和诊疗遗传性皮肤病有所裨益。     

罕见性遗传性皮肤病的研究现状及展望

罕见性皮肤病虽然发病率较低,但是由于种类繁多、危害性大而日益被国内外学者所重视。其中严重的罕见性遗传性皮肤病不仅影响美观、危及生命,而且影响下一代,因此国内外学者不断深入地研究此类疾病,发现了多个罕见性遗传性皮肤病的致病基因及突变位点,某些疾病的基因治疗也取得了一定进展,遗传性罕见性皮肤病的遗传咨询正在不断开展和深入。但目前仍然有部分疾病的发病机制未被阐明,遗传咨询和基因治疗面临较多挑战,国内外学者仍需要加强合作和交流,加大加深在此类疾病上的研究力度和深入,为早日阐明罕见性皮肤病发病机制、早期诊断和治疗干预提供重要的借鉴依据。     

网络资源在遗传性皮肤病教学中的应用

遗传性皮肤病是一类由于基因变异而引起的疾病,临床上并不少见。该文主要介绍一些国内外常见的遗传性皮肤病相关网站,并阐述其在教学中的意义,以便能够充分认识到网络资源对遗传性皮肤病教学的重要性。     

毛囊角化病研究进展

毛囊角化病是一种常染色体显性遗传性皮肤病,临床表现为对称分布的褐色角化性丘疹、斑块,上覆油腻性鳞屑,好发于皮脂溢出部位。组织病理学特征为棘层松解性角化不良,本病与ATP2A2基因突变有关。目前治疗新进展包括新型药物、放射治疗、同种异体皮肤移植术和基因治疗等。     

microRNA在皮肤疾病中的研究进展

microRNA是一组非编码的单链小RNA,与转录后的基因抑制有关.它们和靶mRNA的3'UTR结合后可以影响翻译或转录物的稳定性.研究表明,miRNA可以调节很多生理发育过程.有关其与皮肤疾病的报道表明,miRNA和皮肤肿瘤、炎症性疾病、自身免疫性疾病、皮肤创伤愈合均存在着一定联系.随着对miRNA和皮肤疾病关系的进一步研究,可找到这些疾病新的诊断和治疗方法.     

Permanent disability pension due to skin diseases in Denmark 2003-2008

Skin diseases are common in the society. The majority of papers published on the impact of skin diseases are focused on clinical consequences of the quality of life, depression and anxiety. The overall societal perspective on skin disease is only poorly described but is important in the understanding of how skin diseases affect patients and in arguments for continued specialist services. An approach to explore the societal impact of skin diseases is to investigate the incidence of permanent disability pensions granted due to skin diseases. The present study evaluated the number of permanent disability pensions granted due to skin diseases in Denmark during the 2003-2008 period and related them to previous findings. In view of the high prevalence of skin diseases in the society, and particularly their role in occupational medicine, only a low number of disability pensions are granted. This may reflect that skin diseases either have less impact on the individual or are not considered by the authorities as debilitating as other high prevalence diseases such as musculoskeletal, psychiatric or circulatory diseases.     

Flood‐related skin diseases: a literature review

Flood is one of the most common natural disasters, which commonly occurs in all parts of the world. The effects of the disasters considerably become enormous problems to overall public health systems. Flood‐related skin diseases are a portion of these consequences presenting with cutaneous manifestations and/or signs of systemic illnesses. We conducted a systematic literature review of research publications relating to flooding and skin diseases. The purpose of this review was to provide dermatologists as well as general practitioners with comprehensive conditions of flood‐related skin diseases and suggested treatments. Moreover, we categorized these flood‐related diseases into four groups comprising inflammatory skin diseases, skin infections, traumatic skin diseases, and other miscellaneous skin diseases in a bid to implement early interventions and educate, prevent, and efficaciously handle those skin diseases under such a catastrophic situation so that better treatment outcomes and prevention of further complications could be ultimately achieved and accomplished.     

Prevalence of physical symptoms of itch, pain and fatigue in patients with skin diseases in general practice

BACKGROUND: Physical symptoms of skin diseases have been shown to negatively affect patients' wellbeing. Although insight into physical symptoms accompanying skin diseases is relevant for the management and treatment of skin diseases, the prevalence of physical symptoms among patients with skin diseases is a rather unexplored territory. OBJECTIVES: The goal of the present study was to examine the prevalence of physical symptoms of itch, pain and fatigue in patients with skin diseases. METHODS: On the basis of a systematic morbidity registration system in primary care, questionnaires were sent to 826 patients with skin diseases. Eventually, questionnaires from 492 patients were suitable for our analyses. RESULTS: Results indicated that patients with skin diseases particularly experience symptoms of itch and fatigue. Approximately 50% of all patients report experiencing these symptoms and about 25% experience these symptoms as relatively severe. Pain was relatively less frequently reported by 23% of all patients, and was on average somewhat less intense. The physical symptoms showed relatively strong correlations with disease-related quality of life and self-reported disease severity. In contrast, only moderate correlations were found with comorbidity and demographic variables, which suggests that the physical symptoms of itch, pain and fatigue are consequences of the skin diseases. CONCLUSIONS: Itch and fatigue and, to a somewhat lesser extent, pain have a high prevalence among patients with skin diseases. Clinicians should be encouraged to carefully assess itch, pain and fatigue in patients with skin diseases, and where appropriate focus treatment to these symptoms.     

Trends of skin diseases in organ‐transplant recipients transplanted between 1966 and 2006: a cohort study with follow‐up between 1994 and 2006

Background Skin diseases are frequently observed in organ‐transplant recipients (OTRs). Objectives To count the registered skin diseases in all 2136 OTRs who had been transplanted in a single centre between 1966 and 2006 and to calculate their relative contribution in relation to the number of years after transplantation. Methods All registered skin diseases which were entered into a computerized system between 1994 and 2006 at the Leiden University Medical Centre were counted and their relative contributions were calculated. Results Between 1994 and 2006, 2408 skin diseases were registered in 801 of 1768 OTRs who were at risk during this specific time period. The most commonly recorded diagnoses were skin infections (24·0%) followed by benign skin tumours (23·3%) and malignant skin lesions (18·2%). The relative contributions of infectious and inflammatory disorders decreased with time after transplantation, whereas the contribution of squamous cell carcinomas strongly increased with time. Conclusions This study gives a systematic overview of the high burden of skin diseases in OTRs. The relative distributions of skin diseases importantly changed with time after transplantation, with squamous cell carcinoma contributing most to the increasing burden of skin diseases with increasing time after transplantation.     

Phototherapy and photochemotherapy of sclerosing skin diseases

The treatment of sclerosing skin diseases [systemic sclerosis, localized scleroderma, lichen sclerosus et atrophicus, sclerodermoid graft-vs.-host disease, scleredema adultorum (Buschke), scleromyxedema and necrobiosis lipoidica] is difficult and remains a great challenge. Numerous treatments, some with potentially hazardous side effects, are currently used with only limited success. The introduction of phototherapy and photochemotherapy for sclerosing skin diseases has considerably enriched the therapeutic panel and proven useful in a number of sclerosing skin diseases especially in localized scleroderma. Two phototherapeutic modalitites are used for the treatment of sclerosing skin diseases, long-wave ultraviolet A and psoralen plus ultraviolet A (PUVA). This article reviews current knowledge about the application of phototherapy and photochemotherapy to various sclerosing skin disorders.     

Lymphocytic infiltrations of face

The immune system protects our organism and, of course, our skin from harmful factors. One of the key elements of the immune system is lymphocytes. Lymphocytes play a role in the pathogenesis of various skin diseases. Lymphocytic infiltrates are seen in many skin diseases. Some of the skin diseases characterized by lymphocytic infiltration show up in specific anatomic locations, whereas other entities can be placed in all areas of the body. The course of lymphocytic infiltrations of the face is variable and unpredictable, most often lasting from months to years. The most important diseases with lymphocytic infiltration of the face are pseudolymphomas. This review discusses various types of cutaneous pseudolymphomas and other diseases with lymphocytic infiltration mainly involving the face.     

Gender aspects in skin diseases

Gender differences in medicine have been recognized in anatomy, physiology, as well as in epidemiology and manifestations of various diseases. With respect to skin disorders, males are generally more commonly afflicted with infectious diseases while women are more susceptible to psychosomatic problems, pigmentary disorders, certain hair diseases, and particularly autoimmune as well as allergic diseases. Significantly, more female sex‐associated dermatoses can be identified than the male sex‐associated dermatoses. Dermatoses in the genital area differ between men and women. Gender differences also exist in the occurrence and prognosis of certain skin malignancies. The mechanisms underlying gender differences in skin diseases remain largely unknown. Differences in the skin structure and physiology, effect of sex hormones, ethnic background, sociocultural behaviour and environmental factors may interact to exert the influences. A better understanding of gender differences in human health and diseases will allow the development of novel concepts for prevention, diagnosis and therapy of skin diseases.     

桥粒蛋白与皮肤病

桥粒位于所有上皮细胞及某些特定组织中。它主要由两类蛋白质构成：跨膜蛋白和胞质内蛋白。某些桥粒蛋白的结构破坏会在不同程度上引起皮肤疾病。这些皮肤疾病主要为自身免疫性皮肤病，如天疱疮、遗传性皮肤病及金黄色葡萄球菌性烫伤样皮肤综合征。主要概述桥粒蛋白的分子结构及其异常所致主要皮肤疾病的发病机制。     

皮肤病住院死亡患者58例回顾性分析

目的　了解皮肤病住院死亡患者的原发疾病与死亡原因。方法　收集 1972年～ 2 0 0 2年在本院皮肤科住院治疗的 5 8例死亡患者的临床资料 ,分析其原发疾病、死亡原因及其相关因素。结果　原发疾病主要为结缔组织病、大疱性皮肤病、重症药疹 ;死亡原因主要为严重感染和多器官功能衰竭。结论　结缔组织病是皮肤病住院死亡患者最常见的原发疾病 ,而严重感染是主要的死亡原因。