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Related Concept Videos

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...
Skin Diseases and Disorders01:23

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...
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...
Pigmentation01:19

Pigmentation

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...
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

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Related Experiment Video

Updated: Jun 10, 2026

Combining Reflectance Confocal Microscopy with Optical Coherence Tomography for Noninvasive Diagnosis of Skin Cancers via Image Acquisition
09:37

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

Published on: August 18, 2022

Dyskeratosis congenita.

Vineeta Gupta1, Akash Kumar

  • 1Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi-221005, India. vineetaguptabhu@gmail.com

Advances in Experimental Medicine and Biology
|August 7, 2010
PubMed
Summary

Dyskeratosis congenita (DC) is a rare inherited bone marrow failure disorder. Current treatments include androgens and stem cell transplantation, with the latter being the preferred choice.

Area of Science:

  • Genetics
  • Hematology
  • Oncology

Background:

  • Dyskeratosis congenita (DC), also known as Zinsser-Cole-Engman syndrome, is an inherited bone marrow failure syndrome.
  • Characteristic features include reticulated hyperpigmentation, dystrophic nails, and oral leukoplakia.
  • Hematologic manifestations typically emerge in early adulthood, and patients have an increased risk of head and neck carcinomas.

Purpose of the Study:

  • To summarize the key aspects of Dyskeratosis congenita.
  • To highlight the genetic basis, clinical manifestations, and current treatment strategies for DC.

Main Methods:

  • Review of existing literature on Dyskeratosis congenita.
  • Analysis of genetic factors, clinical presentation, and therapeutic interventions.

More Related Videos

Generation and Culturing of Primary Human Keratinocytes from Adult Skin
10:42

Generation and Culturing of Primary Human Keratinocytes from Adult Skin

Published on: December 22, 2017

Related Experiment Videos

Last Updated: Jun 10, 2026

Combining Reflectance Confocal Microscopy with Optical Coherence Tomography for Noninvasive Diagnosis of Skin Cancers via Image Acquisition
09:37

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

Published on: August 18, 2022

Generation and Culturing of Primary Human Keratinocytes from Adult Skin
10:42

Generation and Culturing of Primary Human Keratinocytes from Adult Skin

Published on: December 22, 2017

Main Results:

  • DC is linked to mutations in genes such as DKC1, TERC, TERT, and NOP10, leading to short telomeres.
  • Early childhood variants (Hoyeraal-Hreidarsson syndrome) present with immunological abnormalities.
  • Androgen therapy and stem cell transplantation are utilized for treatment.

Conclusions:

  • Stem cell transplantation from a matched sibling donor is the current treatment of choice for DC.
  • Modified nonmyeloablative conditioning protocols are necessary due to complications.
  • Understanding the genetic and clinical spectrum is crucial for patient management.