Xeroderma pigmentosum

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Xeroderma pigmentosum

Molecular biology

Molecular biology

Nuclear structure

DNA structure

Transcription of DNA

Translation of mRNA

Gene regulation

Epigenetics

Amino acids and protein folding

Protein structure and synthesis

Nucleotide metabolism

DNA replication

Lac operon

DNA damage and repair

Cell cycle

Mitosis and meiosis

DNA mutations

Disorders of molecular biology

Lesch-Nyhan syndrome

Orotic aciduria

Adenosine deaminase deficiency

Xeroderma pigmentosum

Li-Fraumeni syndrome

Bloom syndrome

Fanconi anemia

McCune-Albright syndrome

Acute radiation syndrome

Purine and pyrimidine synthesis and metabolism disorders: Pathology review

Assessments

Xeroderma pigmentosum

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First Aid

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Xeroderma pigmentosum p. 37

Summary

Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder that affects the body's ability to repair damage to DNA caused by ultraviolet (UV) radiation. Individuals with XP are extremely sensitive to UV radiation and are at a high risk for developing skin cancers like basal cell carcinoma, squamous cell carcinoma, and melanoma. They may also develop eye problems, including photophobia, conjunctivitis, and corneal ulcers. Symptoms of XP can include dry, scaly, and pigmented skin, and uneven pigmentation. In severe cases, neurological symptoms such as developmental delay, progressive hearing loss, and cognitive impairment can also occur. Treatment primarily focuses on preventing(avoiding exposure to UV radiation by staying indoors, wearing protective clothing and sunscreen, and using protective eyewear) and managing symptoms.

Elsevier

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