Summary of Albinism
Flashcards on Albinism
is the most common enzyme affected in albinism.
Questions on Albinism
A six-year-old boy comes to the pediatrician clinic for a scheduled check-up. He and his parents recently immigrated to the U.S. from Africa. His parents report that he frequently gets sunburned when playing outside. The parents also say that their child is otherwise healthy with no other medical issues. Physical examination shows a well-appearing boy with extremely pale skin, white hair, and blue eyes. Both his parents are dark skinned. Genetic testing indicates that he has a disorder associated with an increased risk of developing squamous cell carcinoma. Which of the following best describes the disease pathophysiology in this patient?