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Related Concept Videos

Skin Cancer01:30

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...
Cells of the Epidermis01:24

Cells of the Epidermis

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...
Desmosomes01:05

Desmosomes

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 complexes comprising desmosomal...
Clinical Applications of Epidermal Stem Cells01:19

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...
Renewal of Skin Epidermal Stem Cells01:12

Renewal of Skin Epidermal Stem Cells

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 cells,...
Layers of the Epidermis01:21

Layers of the Epidermis

The epidermis, the outermost layer of the skin, is composed of several distinct layers. From deep to superficial, the layers of the epidermis are as follows:
Stratum Basale
Stratum basale, also known as the stratum germinativum, is the deepest layer of the epidermis. It is composed of a single layer of actively dividing cells called basal cells or basal keratinocytes. These cells constantly undergo cell division to replenish the upper layers of the epidermis. Additionally, melanocytes, which...

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Granulocyte-dependent Autoantibody-induced Skin Blistering
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Granulocyte-dependent Autoantibody-induced Skin Blistering

Published on: October 12, 2012

Epidermolysis bullosa simplex.

Eli Sprecher1

  • 1Department of Dermatology, Tel Aviv Sourasky Medical Center, 6 Weizmann Street, Tel Aviv 64239, Israel. elisp@tasmc.health.gov.il

Dermatologic Clinics
|December 1, 2009
PubMed
Summary
This summary is machine-generated.

Epidermolysis bullosa simplex (EBS) affects 6-30 per million births, often due to KRT5/KRT14 gene mutations. Advances in understanding these keratin disorders now enable DNA-based prenatal testing for affected families.

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Area of Science:

  • Genetics
  • Dermatology
  • Molecular Biology

Background:

  • Epidermolysis bullosa simplex (EBS) is a rare genetic skin disorder.
  • Its prevalence is estimated between 6 to 30 cases per million live births globally.
  • EBS is primarily caused by mutations in keratin genes KRT5 and KRT14.

Purpose of the Study:

  • To summarize the current understanding of the molecular basis of Epidermolysis Bullosa Simplex.
  • To highlight the genetic causes, specifically mutations in KRT5 and KRT14.
  • To discuss the implications of these findings for diagnostic advancements.

Main Methods:

  • Review of existing literature on Epidermolysis Bullosa Simplex genetics.
  • Analysis of mutation data in KRT5 and KRT14 genes.
  • Examination of the role of keratin proteins in epidermal structure and function.

Main Results:

  • Identified missense mutations in KRT5 and KRT14 as the common cause of EBS.
  • Confirmed that KRT5 and KRT14 encode keratins crucial for epidermal basal layer integrity.
  • Demonstrated a link between molecular understanding and diagnostic capabilities.

Conclusions:

  • Significant progress has been made in elucidating the molecular pathogenesis of EBS.
  • The identification of specific gene mutations facilitates genetic counseling and diagnosis.
  • DNA-based prenatal testing is now a viable option for families with a history of EBS.