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Go for the Glory: Pediatrics Quiz

October 16, 2012

QUESTION 4:

dyskeratosis congenita, an inherited bone marrow failure syndrome dyskeratosis congenita, an inherited bone marrow failure syndrome

A 57-day-old girl initially had a rash on her face and scalp. When she was 1 year old, she was brought to the emergency department with fever and rash; laboratory test results—CBC count, blood and urine cultures, and urinalysis—were normal. A month later, a whitish coating developed on her lips and tongue. At age 19 months, the girl had dark plaques and edema all over her body, poor dentition, ichthyosiform rash with fine scale, and spoon-shaped nail changes. A punch biopsy showed dermal fibroplasia, dermal melanophages, and interface dermatitis.

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