Incontinentia pigmenti
QUESTION 87
A 3-month-old infant girl presents with her mother to the pediatric dermatology clinic for the evaluation of blisters on the arms and upper chest. Her mother states that the blisters have been present for about 3 days, and her pediatrician was concerned about scabies infestation and had treated her and all family members with permethrin 5% cream with no improvement. On examination, there is a linear arrangement of erythematous vesicles and bullae on the arms and upper chest (87). A single vesicle was unroofed and Tzanck smear was negative.
i. What is the most likely diagnosis?
ii. What is the gene defect and how can this disease occur in males?
iii. What other disorder(s) is this gene defect seen in?