Related Experiment Video
Updated: Jul 9, 2026

10:42
Generation and Culturing of Primary Human Keratinocytes from Adult Skin
Published on: December 22, 2017
Dyskeratosis Congenita: a historical perspective
Amanda J Walne1, Inderjeet Dokal
1Academic Unit of Paediatrics, Institute of Cell and Molecular Science, Barts and The London, Queen Mary's School of Medicine and Dentistry, The Blizard Building, 4 Newark Street, London E1 2AT, UK. a.walne@qmul.ac.uk
Mechanisms of Ageing and Development
|December 7, 2007
Summary
Dyskeratosis Congenita (DC), a rare bone marrow failure syndrome, is defined by mucocutaneous issues and cancer risk. This review traces the historical evolution of DC
Area of Science:
- Genetics
- Hematology
- Dermatology
Background:
- Dyskeratosis Congenita (DC), or Zinsser-Engman-Cole syndrome, is a rare genetic disorder.
- It presents as a multi-system bone marrow failure syndrome.
- Characterized by mucocutaneous abnormalities and increased cancer predisposition.
Observation:
- The current definition of DC evolved over time.
- This review examines the historical development of DC and related diseases.
- It covers the period from the early 20th century to 2007.
Findings:
- The review summarizes key developments in understanding DC.
- It highlights the chronological progression of knowledge.
- Focuses on the identification of genes and pathophysiology.
Implications:
- Provides a historical perspective on Dyskeratosis Congenita.
- Aids in understanding the genetic basis and pathophysiology of DC.
- Useful for researchers and clinicians studying rare bone marrow failure syndromes.
Related Concept Videos
Changes in Skin Color: Clinical Perspectives
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...
Albinism
Albinism is a genetic disorder that affects (completely or partially) the coloring of skin, hair, and eyes. The defect is primarily...
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...
Basal Cell Carcinoma (BCC): BCC is the most common type of skin cancer, accounting for about 80% of cases. It typically develops in...
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...
Gram-positive Staphylococcus spp. and Streptococcus spp. are responsible for many of the most common skin infections. However, many...
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...
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...
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...
Pedigree Analysis
Overview

