Friday Pop Quiz 8/1/2025

A 3-month-old infant presents with the findings seen in the photo in the first week of life. The mother reports the infant was born with a membrane encasing it that later “peeled off”. History is also notable for poor weight gain and multiple rounds of antibiotics since birth. On physical exam there is diffuse erythema, scaling, and sparse eyebrow hair. Laboratory studies show eosinophilia (1,500/μL) and markedly elevated IgE (2,500 IU/mL). A biopsy demonstrates spongiosis, parakeratosis, and a sparse lymphocytic infiltrate. What is the most likely diagnosis, and the next diagnostic step?

A. Netherton syndrome; genetic testing for SPINK5 mutation

B. Omenn syndrome; flow cytometry and lymphocyte subset analysis

C. Lamellar ichthyosis; genetic testing for TGM1 mutation

D. Staphylococcal scalded skin syndrome; blood cultures and anti-staphylococcal antibiotics

E. Hyper-IgE syndrome; STAT3 gene sequencing

To find out the correct answer and read the explanation, click here.

 

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