Xeroderma Pigmentosum Flashcards
What is Xeroderma Pigmentosum (XP)?
Xeroderma Pigmentosum (XP) is a rare genetic disorder characterized by extreme sensitivity to ultraviolet (UV) rays from sunlight, leading to a high risk of skin cancer and other skin abnormalities.
What causes Xeroderma Pigmentosum?
XP is caused by mutations in genes responsible for nucleotide excision repair (NER), a DNA repair mechanism that fixes damage caused by UV light. Defective NER leads to an inability to repair DNA damage, resulting in the clinical manifestations of XP.
What are the major clinical features of Xeroderma Pigmentosum?
Major clinical features include severe sunburns with minimal sun exposure, freckling and pigmentation changes on sun-exposed areas, early-onset skin cancers (basal cell carcinoma, squamous cell carcinoma, and melanoma), and progressive neurodegeneration in some cases.
How is Xeroderma Pigmentosum inherited?
XP is inherited in an autosomal recessive manner, meaning that an individual must inherit two mutated copies of the responsible gene, one from each parent, to develop the condition.
What are the management strategies for patients with Xeroderma Pigmentosum?
Management includes strict UV protection (e.g., wearing protective clothing, using high-SPF sunscreen, avoiding sun exposure), regular skin examinations for early detection of cancers, prompt treatment of skin cancers, and neurological monitoring.
How is Xeroderma Pigmentosum diagnosed?
Diagnosis is made based on clinical findings, family history, and confirmed by genetic testing or cellular assays to detect defects in DNA repair mechanisms.
