Acrodermatitis Enteropathica – A Diagnostic Challenge: Case Report of Late-Onset, Genetically Proven Disease with Normal Zinc Serum Levels

January 2025 in “ Pediatria i Medycyna Rodzinna ”

Monika Sztupecka-Rutkowska, Bożena Wojciechowska, Edyta Heropolitańska–Pliszka, Cezary Kowaléwski, Karolina Rutkowska, Anna Walczak, Rafał Płoski, Katarzyna Woźniak

acrodermatitis enteropathica zinc absorption alopecia SCL39A4 gene zinc supplementation hair loss zinc deficiency

TLDR Accurate diagnosis and zinc supplements can improve life quality in acrodermatitis enteropathica, even with normal zinc levels.

This case report discusses a 16-month-old girl with an atypical presentation of acrodermatitis enteropathica, a rare genetic disorder affecting zinc absorption. Despite normal zinc serum levels, the patient exhibited symptoms such as blisters, erythematous plaques, paronychia, and alopecia. Genetic testing confirmed a mutation in the SCL39A4 gene, characteristic of the disorder. The patient's condition improved significantly with oral zinc supplementation, highlighting the importance of accurate diagnosis in metabolic disorders to enhance quality of life and prevent long-term complications.

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