Heterozygous Variants of the SLC39A4 Gene and Possible Increased Risk for Developing Acrodermatitis Enteropathica with Kaposi’s Varicelliform Eruption

Sep 28, 2026

Clinical case report detailing an 8-year-old girl with acrodermatitis enteropathica (AE) complicated by Kaposi’s varicelliform eruption (KVE). The study describes atypical course in which serum zinc remained within normal range while alkaline phosphatase was reduced, highlighting its diagnostic value. Compound heterozygous SLC39A4 variants were identified via genetic testing, and treatment with oral zinc gluconate plus topical crisaborole led to complete resolution within two weeks. Findings expand the SLC39A4 mutational spectrum and support early supplementation and antiviral prophylaxis in AE patients at KVE risk.

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages5

Reading Time13 min

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Introduction

Case Report

Conclusions

e-ISSN 1941-5923 © Am J Case Rep, 2025; 26: e948668 DOI: 10. 12659/AJCR.948668 Received: 2025.02.24 Accepted: 2025.10.01 Available online: 2025.11.05 Published: 2025.12.12 Authors’ Contribution: Study Design A Data Collection B Statistical Analysis C Data Interpretation D Manuscript Preparation E Literature Search F Funds Collection G ABCDEF ABCDEF ABCDEFG Corresponding Author: Financial support: Conflict of interest: Heterozygous Variants of the SLC39A4 Gene and Possible Increased Risk for Developing Acrodermatitis Enteropathica with Kaposi’s Varicelliform Eruption Yuan He Liu Bai Junyou Li Department of Dermatology, The Second Hospital of Lanzhou University, Lanzhou, Gansu, PR China Junyou Li, e-mail: [ljy197958@126.com](ljy197958@126.com) This study was supported by the Gansu Natural Science Foundation (No. 22JR5RA953) None declared Patient: Female, 8-year-old Final Diagnosis: Acrodermatitis enteropathica Symptoms: Chronic dermatitis since infancy, featuring perioral and acral skin lesions, alopecia, and a recent diffuse vesiculobullous rash consistent with Kaposi’s varicelliform eruption Clinical Procedure: — Specialty: Dermatology Objective: Unusual clinical course Background: Acrodermatitis enteropathica (AE) is a rare autosomal recessive disorder caused by solute carrier family 39 member 4 (SLC39A4) gene variants that impair zinc absorption. Although typically associated with bacterial or fungal superinfection, its concurrence with Kaposi’s varicelliform eruption (KVE) is exceptionally rare – only 1 case was previously reported. This report describes a case of KVE complicating AE in a patient with novel compound heterozygous SLC39A4 variants, highlighting the immunovirological implications of zinc deficiency. Case Report: An 8-year-old girl who had chronic dermatitis since infancy presented with a diffuse vesiculobullous rash. Physical examination revealed perioral and acral dermatitis, alopecia, and crusted vesicles consistent with KVE. Laboratory testing showed normal serum zinc levels (76.13 µg/dL) but reduced alkaline phosphatase (32 U/L). Genetic analysis identified compound heterozygous SLC39A4 variants: a maternal frameshift variant (c.522_ 523dup) and 3 paternal variants (c.925T>C, c.1782C>T, and c.1843C>T). The patient received oral zinc gluconate and topical crisaborole ointment, achieving complete resolution within 2 weeks. Conclusions: This case demonstrates that AE may present with normal zinc concentrations, underscoring the diagnostic value of alkaline phosphatase. Genetic confirmation remains essential in atypical presentations. These novel variants broaden the mutational spectrum of SLC39A4 and emphasize the importance of early zinc supplementation and antiviral prophylaxis in patients with AE who display KVE risk. Keywords: Acrodermatitis Enteropathica • Variants • SLC39A4 Gene • Kaposi’s Varicelliform Eruption Full-text PDF: [https://www.amjcaserep.com/abstract/index/idArt/948668](https://www.amjcaserep.com/abstract/index/idArt/948668) 1322 2 1 23 Publisher’s note: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article, or claim that may be made by its manufacturer, is not guaranteed or endorsed by the publisher This work is licensed under Creative Common AttributionNonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0) e948668-1 Indexed in: [PMC] [PubMed] [Emerging Sources Citation Index (ESCI)][Web of Science by Clarivate] [He Y. et](He Y. et) al: SLC39A4 variant impact on acrodermatitis and Kaposi’s eruption © Am J Case Rep, 2025; 26: e948668 Introduction Acrodermatitis enteropathica (AE) is a rare, potentially lifethreatening autosomal recessive disorder first described by Danbolt and Closs in 1943 [1]. It is characterized

FAQs

What condition is discussed in this case report?

The report focuses on acrodermatitis enteropathica (AE) complicated by Kaposi’s varicelliform eruption (KVE) in an 8-year-old girl.

Why is the presentation considered atypical?

Although AE is due to impaired zinc absorption, the patient’s serum zinc level was normal; the report emphasizes that reduced alkaline phosphatase can still support diagnosis.

Which SLC39A4 variants were identified and what was the treatment outcome?

Genetic analysis found a maternal frameshift variant (c.522_523dup) and three paternal variants (c.925T>C, c.1782C>T, c.1843C>T). Oral zinc gluconate with topical crisaborole resulted in complete resolution within two weeks.

Sep 28, 2026

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