Integrated Clinical Correlation Flashcards
1
Q
What causes albinism?
A
Defect in melanin production
2
Q
What is a common mutation/problem in patients with Xeroderma Pigmentosum?
A
Nucleotide excision repair
3
Q
What areXP patients at risk for?
A
Very high risk: Basal cell and squamous cell carcinoma
High risk: melanoma
4
Q
What other cancers are XP patients at risk for?
A
Oropharyngeal squamous cell carcinoma Ocular CNS Colorectal Lung Bladder Prostate Ovarian
5
Q
What are carcinogens for XP patients to avoid?
A
Tobacco Alcohol HPV Processed meet Occupational (dyes, etc)
6
Q
Secondary symptoms of XP?
A
Corneal clouding and ulceration
Neurological degeneration
7
Q
Most XP patients live beyond age ___.
A
20
8
Q
What is anticipation?
A
Earlier onset
9
Q
Does Dyskeratosis congenita (DK) show anticipation?
A
Yes
