case study
A 2-year-old Scottish-American girl presents with deeply pigmented and scarred skin and her growth is delayed. Her dermatologist obtains a skin biopsy: slightly hyperkeratosis, irregular thickening and shrinking in spinus layer, many irregular basal tumor cell mass are observed in dermis.
What is the most likely diagnosis?
What is the molecular genetics behind this disorder?
What is the pathophysiologic mechanism of her symptoms?