Work

Atypical presentation of Acrodermatitis enteropathica in a child: later onset with life-threatening severe extensive dermatitis and septic shock

Year: 2025

Type: article

Abstract: BACKGROUND: Acrodermatitis enteropathica (AE) is a rare autosomal recessive condition caused by mutations in the SLC39A4 gene, leading to a zinc absorption disorder. The hallmark features of AE are periorificial erosive dermatitis, hair loss, and diarrhea. In this case report, we describe an 8-year-old child with AE who presented with septic shock. CASE PRESENTATION: In this case report, we described a case of AE in an 8-year-old boy who presented with severe erosive dermatitis and was referred to the emergency department with septic shock. The genetic tests reported a frameshift deletion on SLC39A4, which confirmed the diagnosis of AE. After treatment with a therapeutic zinc supplement (3 mg/kg/day), his skin lesions began to heal, his hair regrew, and he showed significant improvement in both weight and social engagement. CONCLUSION: Patients presenting with mucocutaneous erosive lesions, particularly in a periorificial pattern, should be considered for a diagnosis of AE. Timely intervention is crucial, as failure to treat the condition can serve as a potential source for sepsis and septic shock originating from cutaneous sources.

Source: BMC Pediatrics

DOI: 10.1186/s12887-025-06208-0

Authors: Elaheh Foroughi, Bahareh Abtahi-Naeini, Maryam Derakhshan, Noushin Rostampour, Sahar Sedighzadeh, Rana Saleh

Institutions: Isfahan University of Medical Sciences, Shahid Chamran University of Ahvaz

Language: English

Topic: Trace Elements in Health

Subfield: Nutrition and Dietetics

Field: Nursing

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,090