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闫铁、腹泻、脱发、畏光、角膜混浊、结痂
Acrodermatitis enteropathica is an autosomal-recessive SLC39A4 intestinal-zinc-transporter defect causing severe zinc deficiency. Presents in infants: periorificial and acral dermatitis (erosive plaques around mouth/anus/hands/feet), diarrhea, alopecia, and increased infections. Treatment: lifelong high-dose oral zinc supplementation, which is curative.
Periorificial/acral erosive dermatitis; diarrhea; alopecia; irritability; recurrent infection
Intestinal zinc-transporter defect causes severe zinc malabsorption, leading to skin/GI/immune dysfunction.
Lifelong high-dose oral zinc supplementation; supportive skin care
Lifelong zinc; genetic counseling; family screening.
It is recommended to visit the Dermatology department; an appointment can be booked on this platform before the visit.
Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.
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