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Related Concept Videos

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.
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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.
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Related Experiment Video

Updated: Apr 27, 2026

Generation and Culturing of Primary Human Keratinocytes from Adult Skin
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Monogenic human skin disorders.

Johannes R Lemke1, Kristin Kernland-Lang, Konstanze Hörtnagel

  • 1Division of Human Genetics, University Children's Hospital Inselspital, Bern, Switzerland.

Dermatology (Basel, Switzerland)
|July 12, 2014
PubMed
Summary
This summary is machine-generated.

Human genodermatoses are rare genetic skin disorders. Advances in gene sequencing simplify diagnosis, crucial for patient counseling and developing targeted treatments for these complex conditions.

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Area of Science:

  • Genetics
  • Dermatology
  • Rare Diseases

Background:

  • Human genodermatoses encompass a wide range of rare genetic skin disorders with overlapping phenotypes, often complicating diagnosis.
  • Accurate genetic diagnosis is essential for patient and family counseling regarding disease progression, prognosis, and inheritance risks.
  • Understanding disease mechanisms is vital for developing effective, individualized therapies.

Purpose of the Study:

  • To compile a comprehensive overview of human genodermatoses and their known genetic causes.
  • To provide a valuable resource for dermatologists in diagnosing genetic skin disorders.
  • To facilitate the application of research findings into clinical practice for patient benefit.

Main Methods:

  • Review of existing literature on human genodermatoses.
  • Analysis of genetic sequencing data and identified causative genes.
  • Synthesis of information on disease phenotypes and genetic etiologies.

Main Results:

  • Identification of numerous genes associated with various genodermatoses.
  • Demonstration of the utility of high-throughput sequencing in diagnosing heterogeneous genetic skin disorders.
  • Compilation of a structured overview linking specific genes to distinct genodermatoses.

Conclusions:

  • Genetic diagnosis is pivotal for managing genodermatoses.
  • This overview serves as a guide for clinicians and a knowledge base for patients.
  • Advancements in genetic technologies are transforming the diagnosis and understanding of rare skin diseases.