BMC pediatrics · 2025
Atypical presentation of Acrodermatitis enteropathica in a child: later onset with life-threatening severe extensive dermatitis and septic shock.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
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Foroughi Elaheh, Abtahi-Naeini Bahareh, Derakhshan Maryam, Rostampour Noushin, Sedighzadeh Sahar, Saleh Rana
Аннотация
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.
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.