A 1-month-old male child presented to the pediatrics OPD with complaints of multiple episodes of watery diarrhoea along with irritability and rash over the body. On examination, it was observed that the baby had severe muscle wasting, alopecia and rash was present on the extremities, face and the perineum. What should be the pedigree of the above disorder: –
Correct Answer: <img style="max-width: 100%" src=" />
Description: This is a case of acrodermatitis enteropathica. Autosomal recessive Inherited form of zinc deficiency Result of a mutation in a zinc transpo protein - decreased ability to absorb zinc from dietary sources Clinical manifestations Triad of: 1. Acral dermatitis (face, hands, feet, anogenital area) 2. Alopecia 3. Diarrhea Treatment 1. Requires lifelong zinc supplementation 2. 1-3 mg/kg of zinc gluconate or sulfate is administered orally each day IMAGE A IS AUTOSOMAL RECESSIVE. IMAGE B IS AUTOSOMAL DOMINANT. IMAGE C IS X-LINKED RECESSIVE.
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