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Related Concept Videos

Desmosomes01:05

Desmosomes

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The term desmosome derives from the Greek words "desmo" and "soma" meaning "adhesion bodies." This structure was first observed during the late 1800s and described as small, dense nodules in the epidermis. Desmosomes are button-like structures that help form an interlinked network of intermediate filaments across the cells. These junctions are  essential to hold cells together under mechanical stress and to maintain tissue integrity. Desmosomes are multi-protein...
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Skin Cancer01:30

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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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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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Cells of the Epidermis01:24

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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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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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Renewal of Skin Epidermal Stem Cells01:12

Renewal of Skin Epidermal Stem Cells

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The skin is divided into epidermis, dermis, and hypodermis, the skin's outermost, middle, and inner layers. The human epidermal layer regularly undergoes renewal, where old, dead cells are replaced by new cells. Epidermal stem cells or EpiSCs divide and differentiate to restore the lost cells. For the renewal process, some EpiSCs continuously self-renew. In contrast, few others differentiate into transit-amplifying cells, which later form prickle or spinous cells, followed by granular...
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Related Experiment Video

Updated: Apr 23, 2026

Combining Reflectance Confocal Microscopy with Optical Coherence Tomography for Noninvasive Diagnosis of Skin Cancers via Image Acquisition
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Dyskeratosis congenita.

Brett Keeling1, Camila Antia, Matthew Steadmon

  • 1University of Florida.

Dermatology Online Journal
|September 23, 2014
PubMed
Summary

Early diagnosis of dyskeratosis congenita (DC) is crucial for managing this rare genetic disorder. Prompt intervention improves outcomes for children with DC, a condition linked to telomere shortening.

Area of Science:

  • Genetics
  • Pediatrics
  • Dermatology

Background:

  • Dyskeratosis congenita (DC) is a rare, life-threatening genetic disorder.
  • Early diagnosis and intervention are critical for patient care.

Observation:

  • A pediatric case of dyskeratosis congenita (DC) is presented.
  • The patient exhibited a 3-year history of transaminitis, biopsy-proven liver fibrosis, dystrophic nails, dental caries, and blepharitis.
  • Leukocyte chromosomal analysis revealed significant telomere shortening, consistent with DC.

Findings:

  • The case highlights the diverse clinical manifestations of dyskeratosis congenita (DC) in a child.
  • Telomere shortening was identified as a key diagnostic marker.

Implications:

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  • Early recognition of DC is vital due to the increased risk of malignancy, hematologic abnormalities, and infections.
  • Understanding DC may offer insights into other telomere maintenance disorders.