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Related Concept Videos

Changes in Skin Color: Clinical Perspectives01:14

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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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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.
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DNA Distortion and Damage
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...
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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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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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Xeroderma Pigmentosum: General Aspects and Management.

Monica Piccione1, Anna Belloni Fortina2, Giulia Ferri3

  • 1Department of Pharmaceutical and Pharmacological Sciences, University of Padova, 35131 Padova, Italy.

Journal of Personalized Medicine
|November 27, 2021
PubMed
Summary

Xeroderma Pigmentosum (XP) is a rare genetic disorder impacting DNA repair, causing extreme UV sensitivity and high skin cancer risk. Research explores liposomal nanocarriers to potentially improve chemoprotective agent delivery for XP patients.

Keywords:
Dimericineliposomesnucleotide excision repairpersonalized medicinexeroderma pigmentosum

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Area of Science:

  • Genetics
  • Molecular Biology
  • Dermatology

Background:

  • Xeroderma Pigmentosum (XP) is a rare genetic syndrome characterized by defective DNA nucleotide excision repair.
  • XP patients exhibit extreme sensitivity to UV radiation, leading to skin and eye damage, a high incidence of skin tumors, and potential neurological issues.
  • Current management focuses on early diagnosis, lifelong UV protection, and surgical removal of skin cancers, with no definitive cure available.

Purpose of the Study:

  • To review the molecular mechanisms underlying Xeroderma Pigmentosum (XP).
  • To highlight the advantages and disadvantages of current and proposed clinical management strategies for XP.
  • To explore the potential of liposomal nanocarrier technology for optimizing chemoprotective agent delivery in XP patients.

Main Methods:

  • Literature review of molecular mechanisms in XP.
  • Analysis of clinical management approaches for XP.
  • Exploration of liposomal nanocarrier technology for drug delivery in XP.

Main Results:

  • XP involves defective DNA repair, leading to significant UV sensitivity and cancer predisposition.
  • Existing management strategies have limitations and can have adverse effects.
  • Liposomal nanocarriers show promise for enhancing chemoprotective agent administration in XP.

Conclusions:

  • Understanding XP's molecular basis is crucial for developing targeted therapies.
  • Novel strategies, like liposomal drug delivery, are needed to improve patient outcomes.
  • Further research into liposomal technology could offer new therapeutic avenues for managing XP.