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Background <p>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.</p> Case presentation <p>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 <i>SLC39A4</i>, which confirmed the diagnosis of AE. After treatment with a therapeutic zinc supplement (3&#xa0;mg/kg/day), his skin lesions began to heal, his hair regrew, and he showed significant improvement in both weight and social engagement.</p> Conclusion <p>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.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年10月28日

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

摘要

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.