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Xeroderma Pigmentosum

jorge.udlh

Created on November 6, 2025

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Transcript

rare disease: xeroderma pigmentosum (XP)

START

Jorge Urbano de las Heras

Index:

1. Signs and symptoms

3. Treatment

5. References

2. Diagnosis

4. Etiology

6. Thanks

Signs and symptoms:

  • Rare genetic disorder.
  • Skin extremely sensitive to ultraviolet light (UV).
  • Sever sunburns.
  • Freckles.
  • Dry skin.
  • Changes in skin pigmentation.
  • High risk of developing skin cancers at an early age.
  • Some cases: eye problems and neurological symptoms.

Diagnosis:

  • Usually made during childhood (clinical signs and laboratory tests).
  • DNA repair test.
  • Genetic testing (XPA, XPC, POLH).

Treatment:

  • No cure.
  • Treatment focuses on prevention and protection from UV exposure.
  • Avoid sunlight exposure.
  • Protective clothing.
  • Sunscreen with high SPF.
  • Check skin lesions or cancers.
  • Specialists.

Etiology:

  • Mutations in gens responsible for repairing DNA.
  • Accumulate genetic damage.
  • Pemature aging and cancer.
  • Autosomal recessive disease.

References:

  • Leung, A. K. C., Barankin, B., Lam, J. M., Leong, K. F., & Hon, K. L. (2022). Xeroderma pigmentosum: An updated review. Drugs in Context, 11, 2022-2-5. https://doi.org/10.7573/dic.2022-2-5
  • Kraemer, K. H., & DiGiovanna, J. J. (2023). Xeroderma pigmentosum. In R. A. Pagon, M. P. Adam, H. H. Ardinger, et al. (Eds.), GeneReviews® [Internet]. University of Washington, Seattle. https://www.ncbi.nlm.nih.gov/books/NBK1397/
  • Genetic and Rare Diseases Information Center (GARD). (n.d.). Xeroderma pigmentosum. National Institutes of Health. https://rarediseases.info.nih.gov/diseases/7910/xeroderma-pigmentosum
  • MacKie, R. M., & others. (2011). Xeroderma pigmentosum. Orphanet Journal of Rare Diseases, 6, 70. https://doi.org/10.1186/1750-1172-6-70
  • Bajaj, A., Sarkar, R., Bansal, S., & Mahajan, R. (2021). Current therapeutic strategies of xeroderma pigmentosum. International Journal of Dermatology, 60(12), e550-e557. https://journals.lww.com/ijd/fulltext/2021/66060/current_therapeutic_strategies_of_xeroderma.15.aspx

Thanks for your attention