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Related Concept Videos

Clinical Applications of Epidermal Stem Cells01:19

Clinical Applications of Epidermal Stem Cells

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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...
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Cell Population Analyses During Skin Carcinogenesis
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Cell Population Analyses During Skin Carcinogenesis

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Selected genodermatoses - Status quo and future prospects.

Jorge Frank1, Cristina Has2, Regina C Betz3

  • 1Department of Dermatology, Venereology and Allergology, Göttingen University Medical Center, Göttingen, Germany.

Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
|March 28, 2023
PubMed
Summary
This summary is machine-generated.

Genodermatoses, or monogenetic skin disorders, have seen significant clinical and genetic advancements over 30 years. Further research is needed for new, translationally motivated treatment strategies for these hereditary diseases.

Keywords:
Basal cell carcinomaepidermolysis bullosagenodermatoseshair disorderskeratinization disorders

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Area of Science:

  • Genetics
  • Dermatology
  • Molecular Biology

Background:

  • Genodermatoses are monogenetic disorders affecting skin exclusively or as part of syndromes.
  • Significant progress in clinical and genetic characterization of hereditary skin diseases over three decades.
  • Established disease-specific classifications, diagnostic algorithms, and examination techniques.

Purpose of the Study:

  • To review the advancements in understanding genodermatoses.
  • To highlight the progress in genetic defect deciphering.
  • To identify the need for developing new therapeutic strategies.

Main Methods:

  • Clinical characterization of hereditary skin diseases.
  • Genetic analysis and defect deciphering.
  • Review of disease-specific classifications and diagnostic algorithms.

Main Results:

  • Numerous hereditary hair, tumor, blistering, and keratinization diseases have been characterized.
  • Continuous development of disease-specific classifications and diagnostic tools.
  • Identification of underlying genetic defects is well advanced.

Conclusions:

  • Understanding of genodermatoses has significantly improved due to genetic and clinical research.
  • Current knowledge allows for advanced diagnostics and classification.
  • Translational research is crucial for developing novel, pathogenesis-based treatments for genodermatoses.