简短的阿纳根综合征 短暂的阿纳根综合征
Jonathan Young1, Michaela Mifsud2, Liam Mercieca2
1Department of Dermatology, Mater Dei Hospital, Msida, Malta; jonathan-richard.young@gov.mt.
Skinmed
|October 21, 2024
概括
一种罕见的头发生长障碍从出生起就导致头皮短而薄的头发. 本案例研究详细介绍了患有这种疾病的健康的10岁女孩,突出了诊断发现.
科学领域:
- 儿科皮肤病学 儿科皮肤病学
- 遗传学 遗传学 是一个
- 三学是指三学的学科.
背景情况:
- 先天性头发异常是一种罕见的疾病,从出生起就影响头皮头发.
- 了解临床和显微镜特征对于诊断至关重要.
研究的目的:
- 描述一个健康的孩子与先天的短和薄头皮头发的案例.
- 详细介绍这种罕见的头发疾病的诊断调查和发现.
主要方法:
- 临床检查包括皮肤镜检查.
- 用显微镜检查头发轴.
- 三角图形用于评估头发周期阶段.
主要成果:
- 头皮外围的短,薄,深色毛发 (毫米至2厘米);头皮中部的较长毛发 (5-8厘米).
- 皮肤镜检查显示了缩的末端,而不是切断的末端.
- 三角图显示了68:32的异原与异原比;没有毛轴异常.
结论:
- 患者呈现一种罕见的先天性头发疾病,其特征是短,薄的头发.
- 诊断方法证实了头发轴异常的缺失和正常的异原/异原比,表明了独特的头发生长模式.
更多相关视频
10:09Rapid Genetic Analysis of Epithelial-Mesenchymal Signaling During Hair Regeneration
Published on: February 28, 2013
13.7K
10:05Stimulation of Stem Cell Niches and Tissue Regeneration in Mouse Skin by Switchable Protoporphyrin IX-Dependent Photogeneration of Reactive Oxygen Species In Situ
Published on: May 8, 2020
1.9K
相关概念视频
Multipotency and Niche of Bulge Stem Cell
3.5K
A hair follicle or HF is a small part of the skin that produces the hair shaft. Paul Gerson Unna was the first to observe a bulge in the human hair follicle's outer root sheath (ORS). The bulge is present between the sebaceous gland and the arrector pili muscle and is the niche for hair follicle stem cells (HFSCs). The bulge is also a niche for melanocyte stem cells, and their loss results in graying of hair. The HFSCs express Sox9 and Lhx2, which help them maintain stemness and prevent...
3.5K
Replicative Cell Senescence
3.6K
Replicative cell senescence is a property of cells that allows them to divide a finite number of times throughout the organism's lifespan while preventing excessive proliferation. Replicative senescence is associated with the gradual loss of the telomere — short, repetitive DNA sequences found at the end of the chromosomes. Telomeres are bound by a group of proteins to form a protective cap on the ends of chromosomes. Embryonic stem cells express telomerase — an enzyme that adds...
3.6K
Abnormal Proliferation
4.5K
Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...
4.5K
Adrenal Gland Disorders
1.4K
Adrenal gland disorders manifest when the production of adrenal hormones deviates from the norm, resulting in either excessive or insufficient concentrations.
Adrenal insufficiency, characterized by insufficient cortisol and aldosterone production, leads to conditions like Addison's disease. This disorder, affecting the adrenal cortex, exhibits symptoms such as skin bronzing, dehydration, low blood pressure, fatigue, and weight loss. Congenital adrenal hyperplasia, a genetic ailment causing...
Adrenal insufficiency, characterized by insufficient cortisol and aldosterone production, leads to conditions like Addison's disease. This disorder, affecting the adrenal cortex, exhibits symptoms such as skin bronzing, dehydration, low blood pressure, fatigue, and weight loss. Congenital adrenal hyperplasia, a genetic ailment causing...
1.4K
Anorexia Nervosa
46
Anorexia nervosa is a complex and severe eating disorder characterized by an intense fear of weight gain, an unrelenting pursuit of thinness, and a distorted body image. It often leads to dangerously low body weight relative to an individual's age and height. This disorder is marked by significant physical and psychological consequences, making it one of the most life-threatening psychiatric illnesses.
Symptoms and Physical Effects
Individuals with anorexia nervosa commonly exhibit extreme...
Symptoms and Physical Effects
Individuals with anorexia nervosa commonly exhibit extreme...
46
Alternative RNA Splicing
21.0K
Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
21.0K
