皮肤表现在自身免疫多发性肌病 - - 淋病 - - 皮肤外 (APECED):一个全面的审查
Florica Sandru1,2, Razvan-Cosmin Petca3,4, Mihai Cristian Dumitrascu5,6
1Department of Dermatovenerology, "Carol Davila" University of Medicine and Pharmacy, 020021 Bucharest, Romania.
Biomedicines
|January 23, 2024
概括
自身免疫性多发性肌肤病变 - 候选症 - 皮肤外 (APECED) 是一种罕见的遗传性疾病. 皮肤症状,如角膜炎,脱毛和白风,是这种疾病的关键诊断指标.
科学领域:
- 皮肤病学 皮肤病学
- 内分泌学 在内分泌学.
- 遗传学 是一个遗传学.
背景情况:
- 自体免疫多基因分泌症 - 候选症 - 皮肤外皮变 (APECED),也称为多腺体自身免疫综合征1型 (PAS-1/APS-1),是一种罕见的自体递归性疾病.
- 它是由自身免疫调节基因 (AIRE) 的突变引起的.
- 由于其多样化的临床谱,特别是皮肤表现,这种情况带来了诊断挑战.
研究的目的:
- 为APECED提供皮肤表现的详细分析.
- 突出慢性粘膜皮肤候群病 (CMC),大发 (AA) 和白风作为诊断指标的作用.
- 综合当前关于APECED的知识,强调通过皮肤症状进行早期检测.
主要方法:
- 对14项重要的人类研究进行叙事分析.
- 在2023年10月之前发表的英语研究的文献综述.
主要成果:
- APECED诊断的经典三位一体包括缺甲状腺症,上腺功能不足和CMC.
- 在全球不同的人口中,CMC,AA和白风的患病率有很大差异.
- 皮肤表现是APECED的关键早期诊断指标.
结论:
- 早期发现和监测APECED至关重要.
- 皮肤症状是APECED的重要诊断线索.
- 持续的研究和临床警是改善APECED患者护理的必要条件.
相关概念视频
Clinical Applications of Epidermal Stem Cells
Epidermal stem cells (EpiSCs) are mainly located at the basal layer of the epidermis. These cells repair minor injuries of the skin and replace dead skin cells. However, EpiSCs’ cannot heal severe wounds such as major burns or those from diabetes or hereditary disorders. In such cases, culturing the epidermal stem cells from the patient is possible and has yielded successful treatment options, such as laboratory-grown skin grafts. These grafts are synthesized using a patient’s own EpiSCs...
Changes in Skin Color: Clinical Perspectives
The first thing a clinician sees is the skin, so the examination of the skin should be part of any thorough physical examination. Most skin disorders are relatively benign, but a few, including melanomas, can be fatal if untreated. A couple of the more noticeable disorders, albinism and vitiligo, affect the appearance of the skin and its accessory organs.
Albinism
Albinism is a genetic disorder that affects (completely or partially) the coloring of skin, hair, and eyes. The defect is primarily...
Albinism
Albinism is a genetic disorder that affects (completely or partially) the coloring of skin, hair, and eyes. The defect is primarily...
Skin Diseases and Disorders
Skin is the first line of defense and encounters a variety of microbes. Some pathogenic strains are often the cause of a broad range of infections of the skin and other body systems. These conditions can affect people of all ages and may have different causes, including genetic factors, infections, autoimmune reactions, environmental factors, and lifestyle choices.
Gram-positive Staphylococcus spp. and Streptococcus spp. are responsible for many of the most common skin infections. However, many...
Gram-positive Staphylococcus spp. and Streptococcus spp. are responsible for many of the most common skin infections. However, many...
Skin Cancer
Skin cancer is a type of cancer that occurs when there is an abnormal growth of skin cells, usually triggered by damage to the DNA within the skin cells. It is primarily caused by exposure to ultraviolet (UV) radiation from the sun or artificial sources like tanning beds. Skin cancer is the most common type of cancer worldwide, and its incidence continues to rise.
Basal Cell Carcinoma (BCC): BCC is the most common type of skin cancer, accounting for about 80% of cases. It typically develops in...
Basal Cell Carcinoma (BCC): BCC is the most common type of skin cancer, accounting for about 80% of cases. It typically develops in...
Endocarditis II: Clinical Features of Infective Endocarditis
Endocarditis can present various clinical features depending on the causative organism and the patient's underlying health conditions. Initially, the clinical features of infective endocarditis develop gradually, presenting with nonspecific symptoms that can be easily mistaken for other illnesses.General SymptomsEarly symptoms of infective endocarditis are fever, chills, weakness, malaise, fatigue, and weight loss. These symptoms reflect the systemic nature of the infection and the body's...
Candidiasis
Candidiasis is a fungal infection caused by opportunistic species of Candida. It can affect various anatomical sites, including the skin, oral cavity, nails, and genitourinary tract. Among its forms, vaginal candidiasis is the most common type of mucosal infection. It typically results from the overgrowth of Candida albicans in the vaginal mucosa. Under normal conditions, C. albicans exists as a commensal organism within the vaginal microbiota, regulated by the dominance of lactobacilli, which...


