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?
Epidermolysis bullosa
Staphylococcal scalded skin syndrome
Acrodermatitis enteropathica
Toxic epidermal necrolysis
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
Infection