X-linked ichthyosis

CASE 88


 


X-linked ichthyosis


QUESTION 88


An 8-month-old infant presents to the pediatric dermatology clinic with his mother for the evaluation of dry scaly skin that has been unresponsive to topical emollients. The patient’s mother states that he has had dry scaly skin for most of his life, but it has never been as severe as this. She also notes a birthing history of prolonged labor, resulting in cesarean section. Otherwise, the patient’s past medical history since birth has been unremarkable and he has reached all appropriate developmental milestones. On examination, there are dark brown adherent scales on the extremities, trunk and neck with sparing of the face, palms, soles and skinfolds (88).


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i. What is the deficiency and pathogenesis of this disease?


ii. How is the patient’s birth history related to this disease?

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Mar 5, 2018 | Posted by in Dermatology | Comments Off on X-linked ichthyosis

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