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Related Concept Videos

Skin Diseases and Disorders01:23

Skin Diseases and Disorders

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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...
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Pigmentation01:19

Pigmentation

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The color of the skin is influenced by a number of pigments, including melanin, carotene, and hemoglobin. Recall that melanin is produced by cells called melanocytes, which are found scattered throughout the stratum basale of the epidermis. The melanin is transferred to the keratinocytes via melanosomes.
Melanin occurs in two primary forms: eumelanin that provides black and brown pigment and pheomelanin that provides red color. Dark-skinned individuals produce more melanin than those with pale...
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Skin Cancer01:30

Skin Cancer

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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...
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Cells of the Epidermis01:24

Cells of the Epidermis

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The epidermis is made of four or five layers of epithelial cells, depending on its location in the body. From deep to superficial, these layers are the stratum basale, stratum spinosum, stratum granulosum, stratum lucidum, and stratum corneum.
The cells in all these layers except the stratum basale are called keratinocytes, a type of cell that manufactures and stores the protein keratin. The keratinocytes in the stratum corneum are dead and regularly slough away, being replaced by cells from...
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Staphylococcal Skin Infections01:29

Staphylococcal Skin Infections

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Staphylococcus aureus is a Gram-positive coccus that resides harmlessly on the skin and mucous membranes of healthy individuals. When the skin barrier is breached, it can shift from a commensal to an opportunistic pathogen. This transition is facilitated by surface adhesins, such as clumping factor B and S. aureus surface protein G (SasG), which bind to structural proteins, including loricrin and cytokeratin, in the damaged epidermis. Protein A, another key factor, binds the Fc region of...
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Changes in Skin Color: Clinical Perspectives01:14

Changes in Skin Color: Clinical Perspectives

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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...
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Exfoliation syndrome: assembling the puzzle pieces.

Louis R Pasquale1,2, Terete Borrás3, John H Fingert4

  • 1Department of Ophthalmology, Mass Eye & Ear Infirmary, Harvard Medical School, Boston, Massachusetts, USA.

Acta Ophthalmologica
|December 10, 2015
PubMed
Summary

Exfoliation syndrome (XFS) is a systemic disorder impacting eye health. Current research on exfoliation material (XFM) formation and its genetic links, like LOXL1 variants, is ongoing, with new findings needing context for a full understanding of XFS pathogenesis.

Keywords:
CACNA1ALOXL1animal modelsexfoliation syndromehomocysteine

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Area of Science:

  • Ophthalmology and genetics research focused on ocular disorders.

Background:

  • Exfoliation syndrome (XFS) is a systemic condition with significant ocular complications, including cataract, glaucoma, and retinal vein occlusion.
  • The exact mechanisms of exfoliation material (XFM) formation in XFS remain incompletely understood, despite new research findings.

Framework:

  • The 21st annual Glaucoma Foundation Think Tank meeting convened experts to discuss cutting-edge approaches to understanding XFS pathogenesis.
  • Key discussion areas included the role of genetic factors, such as Lysyl oxidase-like 1 (LOXL1) variants, and potential biochemical pathways in XFM formation.

Implementation:

  • Research highlights covered the genetic underpinnings of XFS, including established LOXL1 variants and newly identified CACNA1A associations.
  • The potential impact of mild homocysteinemia and altered cell surface calcium concentrations on extracellular aggregate formation was explored.

Implications:

  • Further research using animal and ex vivo models is needed to elucidate the complex pathogenesis of XFS.
  • A comprehensive understanding of XFS pathogenesis could pave the way for novel therapeutic strategies to mitigate ocular morbidity.