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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 24, 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.

Sharon A Savage1, Blanche P Alter

  • 1Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, 6120 Executive Boulevard, Rockville, MD 20852, USA. savagesh@mail.nih.gov

Hematology/Oncology Clinics of North America
|March 31, 2009
PubMed
Summary

Dyskeratosis congenita (DC) is a rare inherited bone marrow failure disorder. Early diagnosis is crucial for effective management and improved outcomes in patients with short telomeres.

Area of Science:

  • Genetics
  • Hematology
  • Oncology

Background:

  • Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome.
  • Clinical features include nail dystrophy, skin pigmentation, and oral leukoplakia.
  • Associated with high risk of hematologic malignancies and solid tumors.

Purpose of the Study:

  • To highlight the critical importance of accurate diagnosis of Dyskeratosis congenita.
  • To emphasize the link between DC, short telomeres, and genetic mutations.
  • To inform clinical management strategies for DC patients.

Main Methods:

  • Review of clinical and genetic findings in Dyskeratosis congenita.
  • Analysis of patient outcomes based on diagnostic accuracy.
  • Correlation of telomere length with disease severity and genetic mutations.

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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

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Last Updated: Jun 24, 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 patients exhibit short germline telomeres, with mutations in telomere maintenance genes found in about half.
  • Accurate diagnosis is vital as DC bone marrow failure does not respond to immunosuppressive therapy.
  • Delayed or inaccurate diagnosis can lead to increased morbidity and mortality, particularly with hematopoietic stem cell transplantation.

Conclusions:

  • Dyskeratosis congenita diagnosis requires careful clinical evaluation and genetic testing.
  • Understanding the genetic basis and telomere biology is key to managing DC.
  • Timely and accurate diagnosis significantly impacts patient prognosis and treatment efficacy.