1 citations
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February 2023 in “Pediatric Dermatology” This case report of an infant with IPEX syndrome highlights the importance of early recognition and treatment, as the patient experienced severe symptoms and succumbed before stem cell transplantation.
January 2023 in “Open journal of pediatrics” In this case report, a 7-month-old girl with suspected acrodermatitis enteropathica and severe dermatitis experienced a tragic outcome despite zinc treatment, highlighting the challenges of diagnosing and managing this rare genetic disorder.
October 2025 in “Frontiers in Medicine” In this case report, a 10-month-old ethnic minority infant from Xinjiang with acrodermatitis enteropathy improved clinically and biochemically after zinc supplementation, underscoring the importance of early genetic testing for SLC39A4 mutations and individualized zinc therapy in managing this disorder.
October 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” This case report describes a 10-month-old minority infant from Xinjiang, China, with acrodermatitis enteropathy due to a SLC39A4 genetic mutation, showing clinical improvement in skin, hair, and zinc levels following zinc supplementation and highlighting the importance of early diagnosis and tailored treatment.
October 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” In this case study, a 10-month-old minority infant from Xinjiang, China, with acrodermatitis enteropathy caused by an SLC39A4 gene mutation showed clinical improvement and increased zinc levels following zinc supplementation, highlighting the importance of early genetic testing and customized treatment in managing the disorder.
31 citations
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March 1963 in “American journal of diseases of children” This report details a case of acrodermatitis enteropathica in a 4-month-old infant, noting the disorder's rarity and familial transmission, and includes a literature review with no new clinical results.
28 citations
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September 1986 in “Pediatric dermatology” In this study, hair anomalies associated with acrodermatitis enteropathica in a young girl improved significantly after two years of zinc therapy.
17 citations
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September 2000 in “Journal of dermatology” This case report describes a rare instance where a child with nonketotic hyperglycinemia developed an acrodermatitis enteropathica-like eruption, likely due to combined zinc and branched chain amino acid deficiencies.
16 citations
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January 2010 in “Journal of Korean medical science/Journal of Korean Medical Science” This case report presents the first genetically confirmed case of acrodermatitis enteropathica in Korea, identifying compound heterozygous mutations in the SLC39A4 gene in an 8-month-old boy.
11 citations
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January 2020 in “BMC pediatrics” This case report identified two new SLC39A4 mutations in twin patients with acrodermatitis enteropathica, suggesting that different mutations in this gene may lead to varying clinical manifestations of the disorder.
6 citations
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December 2015 in “International journal of immunopathology and pharmacology” A novel mutation in the SLC39A4 gene was identified in an infant with mild, incomplete acrodermatitis enteropathic symptoms, suggesting genetic testing is beneficial even without the full symptom triad.
6 citations
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January 2000 in “The Journal of Trace Elements in Experimental Medicine” In this study, an 11-year-old girl with acrodermatitis enteropathica showed significant improvement in symptoms after oral zinc therapy.
5 citations
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April 2013 in “Nasza Dermatologia Online” This study reports no new clinical results on oral zinc therapy for acrodermatitis enteropathica but provides demographic data and symptom prevalence among thirty affected children.
4 citations
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July 2019 in “Clinical and experimental dermatology” This abstract does not provide specific study results or findings, but it notes that the publisher is not responsible for the supplemental content's accuracy and functionality, directing any queries to the article's corresponding author.
3 citations
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June 2025 in “Frontiers in Nutrition” This study reviewed literature on pediatric acrodermatitis enteropathica and found that zinc deficiency occurred in 75.9% of cases, with zinc supplementation showing therapeutic efficacy in 91.4% of patients; however, it was often ineffective in those with underlying metabolic disorders.
3 citations
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January 2007 in “Korean Journal of Pediatrics” This case study reported that zinc supplementation improved skin lesions and diarrhea in a 4-month-old breast-fed infant with transient acrodermatitis enteropathica, even though her serum zinc level was nearly normal.
2 citations
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May 2021 in “Case reports in dermatological medicine” This report describes a 28-year-old male with type 1 diabetes who presented with acrodermatitis enteropathica symptoms, highlighting potential challenges in blood glucose control linked to zinc deficiency.
2 citations
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January 2016 in “Journal of clinical & experimental dermatology research” This case report describes a child with acrodermatitis enteropathica showing dramatic improvement with oral zinc therapy, highlighting the importance of early diagnosis and treatment to prevent severe outcomes.
1 citations
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January 2025 in “Pediatria i Medycyna Rodzinna” This case report of a 16-month-old girl with acrodermatitis enteropathica, who showed atypical symptoms and normal zinc serum levels, highlights how genetic testing and zinc supplementation led to marked improvement in her condition, underscoring the importance of accurate diagnosis in metabolic disorders.
1 citations
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May 2019 in “DOAJ (DOAJ: Directory of Open Access Journals)” This study presented two brothers with hereditary acrodermatitis enteropathica who had normal zinc serum levels and experienced skin and hair lesions, but no dental disorders.
1 citations
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April 2016 in “Journal of Investigative Dermatology” Zinc deficiency causes reversible hair loss by disrupting hair growth and stem cell function.
December 2025 in “Cureus” In this report, successful management of inherited acrodermatitis enteropathica, a zinc absorption disorder due to an SLC39A4 gene defect, was demonstrated in an infant through zinc supplementation.
November 2025 in “American Journal of Case Reports” This case report describes a child with acrodermatitis enteropathica and normal zinc levels who developed Kaposi's varicelliform eruption, highlighting the role of novel SLC39A4 variants and the importance of early zinc supplementation and antiviral prophylaxis.
November 2025 in “Journal of Saidu Medical College Swat” In this case report, a 2.5-year-old boy with biotinidase deficiency, initially misdiagnosed due to overlapping symptoms, showed dramatic improvement in several clinical areas after starting biotin supplementation, but persistent sensorineural hearing loss underscored the importance of early diagnosis for preventing irreversible complications.
October 2025 in “BMC Pediatrics” This case report describes an 8-year-old boy with acrodermatitis enteropathica who showed significant recovery from severe symptoms after receiving a therapeutic zinc supplement.
October 2025 in “Indian Journal of Paediatric Dermatology” This case study documents a boy with zinc-responsive acral hyperkeratosis improving significantly after zinc supplementation, suggesting it could result from inadequately treated acrodermatitis enteropathica.
August 2025 in “International Journal of Research in Dermatology” This case report highlights an atypical presentation of acrodermatitis enteropathica in an 18-year-old male, exhibiting symptoms like erythrokeratoderma variabilis with a positive response to high-dose oral zinc, underscoring the importance of considering zinc deficiency in unusual skin conditions.
April 2025 in “Indian Journal of Paediatric Dermatology” This case report describes a 7-month-old girl diagnosed with acrodermatitis enteropathica, linked to low zinc levels, whose skin lesions improved significantly after zinc supplementation.
In this case report, a two-year-old girl with acrodermatitis enteropathica was misdiagnosed for over a year before low serum zinc levels led to the correct diagnosis, and her skin lesions resolved completely after two weeks of zinc sulfate treatment.
August 2024 in “Turkish Journal of Pediatric Disease” This case report details a 5-month-old infant with acrodermatitis enteropathica, linked to zinc deficiency from total parenteral nutrition, who showed improvement using zinc spray and cream, contrasting with typical literature outcomes.