1 and 1/2 year old child with history of chronic diarrhea was brought to the hospital with complaints of perioral and perineal rash. What is your diagnosis?
Correct Answer: Acrodermatitis enteropathica
Description: Ans. C. Acrodermatitis enteropathicaAcrodermatitis enteropathica:* Autosomal recessive disorder seen in infants due to defect in intestinal zinc specific transporter - Human ZIP4 protein* Genetic locus - Chromosome 8q24.3* Classically presents while weaning from breast milk to formula, which has lower zinc bioavailability than breast milk.* C/F - Perioral and perineal rashes, periungual dermatitis- Beau's lines on nails, chronic diarrhea, alopecia.* Labs - Low serum zinc, ALP* Paneth cell inclusion in intestinal mucosal biopsy* Treatment - Zinc - 50mg/day for infants, upto 150mg/day for children
Category:
Pediatrics
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