A 9-month-old bottle-fed infant presents with persistent watery diarrhea, a symmetrical eczematous rash around the mouth, anus, and hands, and diffuse alopecia. Serum alkaline phosphatase is low. Which of the following is the most likely diagnosis?

• A Essential fatty acid deficiency
• B Kwashiorkor
• C Biotinidase deficiency
• D Acrodermatitis enteropathica ✓

Explanation

Acrodermatitis enteropathica is an autosomal recessive defect in intestinal zinc absorption (ZIP4 transporter). The triad of acral and periorificial vesicobullous dermatitis, alopecia, and intractable diarrhea is characteristic, and low serum alkaline phosphatase, itself a zinc dependent enzyme, supports zinc deficiency. Biotinidase deficiency also causes alopecia and dermatitis but does not produce this periorificial distribution with diarrhea and low ALP.

Reference: Nelson Textbook of Pediatrics, 21st ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.