What causes albinism?
Defect in melanin production
What is a common mutation/problem in patients with Xeroderma Pigmentosum?
Nucleotide excision repair
What areXP patients at risk for?
Very high risk: Basal cell and squamous cell carcinoma
High risk: melanoma
What other cancers are XP patients at risk for?
Oropharyngeal squamous cell carcinoma Ocular CNS Colorectal Lung Bladder Prostate Ovarian
What are carcinogens for XP patients to avoid?
Tobacco Alcohol HPV Processed meet Occupational (dyes, etc)
Secondary symptoms of XP?
Corneal clouding and ulceration
Neurological degeneration
Most XP patients live beyond age ___.
20
What is anticipation?
Earlier onset
Does Dyskeratosis congenita (DK) show anticipation?
Yes