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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