Acrodermatitis Enterophatica and Severe Anemia in Pediatrics: A Case Report with a Multidisciplinary Approach

Abstract

Introduction: Acrodermatitis enteropathica (AE) is a rare autosomal recessive disorder caused by mutations in the SLC39A4 gene, leading to impaired intestinal zinc absorption. Its low prevalence and nonspecific initial manifestations may delay diagnosis and increase the risk of dermatological, gastrointestinal, hematological, and immunological complications. Objective: To describe the multidisciplinary management of a pediatric case of acrodermatitis enteropathi a associated with severe anemia and chronic malnutrition in a socially vulnerable setting. Clinical case: A 5-year-old girl from a rural community in Oaxaca, Mexico, with genetically confirmed AE, severe chronic malnutrition (weight: 9.3 kg,< −4 SD; BMI: 10.1), and severe anemia (Hb: 6.3 g/dL). Clinical findings included erythematous-scaly lesions in acral and periorificial areas, chronic diarrhea, recurrent infections, and pressure ulcers. Management: A multidisciplinary approach was implemented, including blood transfusion for symptomatic anemia, oral zinc supplementation (3 mg/kg/day), intensive enteral nutritional support, topical emollients and antibiotics, and advanced wound care. Management was structured through the systematic application of the Nursing Care Process (PAE), using NANDA-NIC-NOC taxonomy and clinical practice guidelines. Results: After four weeks, clinical and laboratory improvement was observed, including hemoglobin levels of 10.1 g/dL, serum zinc of 68 μg/dL, a weight gain of 1.2 kg, and approximately 80% resolution of skin lesions. Conclusion: This case highlights the role of a multidisciplinary approach structured through the PAE in the management of rare metabolic diseases. It also underscores the importance of interinstitutional coordination to ensure continuity of care in resourcelimited settings.