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Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure.
Features include always present findings: Perioral erythema and Perianal erythema; and very common findings: Short stature, Dry skin, Abnormal eyelid morphology, and Abnormal eyebrow morphology and others. 49 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Skin | 11 | Perioral erythema, Perianal erythema, Dry skin |
SLC39A4 function has not been fully characterized.
Acrodermatitis enteropathica is caused by mutations in the SLC39A4 gene on chromosome 8.
Genetic testing for SLC39A4 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 2 always present features, 12 very common features, 16 common features.
Estimated prevalence: Unknown (Unknown prevalence).
1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.
30 publications have been identified in PubMed for acrodermatitis enteropathica. Research spans Case Report / Case Series (87%), Review / Meta-Analysis (10%), and Basic Science / Preclinical (3%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 26 | 87% |
Data assembled from 8 of 12 sources · Last updated Sep 19, 2026, 1:53 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about acrodermatitis enteropathica
Digestive system
6 |
Enlarged liver (hepatomegaly), Enlarged spleen (splenomegaly), Diarrhea |
Brain and nerves | 5 | Ataxia, Irritability, Emotional lability |
Growth and development | 3 | Short stature, Failure to thrive, Weight loss |
Eyes | 3 | Visual impairment, Conjunctivitis, Corneal erosion |
Blood and immune system | 2 | Enlarged spleen (splenomegaly), Recurrent candida infections |
Hormones | 1 | Hypogonadism |
Lab test results | 1 | Decreased circulating alkaline phosphatase activity |
Muscles | 1 | Cerebral cortical atrophy |
Arms and legs | 1 | Ridged fingernail |
Age of onset: childhood.
Research summaries |
3 |
10% |
Laboratory research | 1 | 3% |
Ahmed H (2026). [PMID: 41604188](https://pubmed.ncbi.nlm.nih.gov/41604188/). *JAMA dermatology*. [Case Report / Case Series]
Jagadeesan S (2026). [PMID: 28722865](https://pubmed.ncbi.nlm.nih.gov/28722865/). *Unknown Journal*. [Review / Meta-Analysis]
Taneja KK (2026). [PMID: 42133184](https://pubmed.ncbi.nlm.nih.gov/42133184/). *Indian J Pediatr*. [Case Report / Case Series]
Cheema M (2025). [PMID: 41475879](https://pubmed.ncbi.nlm.nih.gov/41475879/). *BMJ case reports*. [Case Report / Case Series]
Cui W (2025). [PMID: 40584104](https://pubmed.ncbi.nlm.nih.gov/40584104/). *Frontiers in nutrition*. [Case Report / Case Series]
Flor D (2025). [PMID: 41804627](https://pubmed.ncbi.nlm.nih.gov/41804627/). *Acta dermatovenerologica Croatica : ADC*. [Case Report / Case Series]
Hanan A (2025). [PMID: 40625686](https://pubmed.ncbi.nlm.nih.gov/40625686/). *Case reports in dermatology*. [Case Report / Case Series]
Lai FY (2025). [PMID: 41078433](https://pubmed.ncbi.nlm.nih.gov/41078433/). *JAAD case reports*. [Case Report / Case Series]
Horth D (2025). [PMID: 40371305](https://pubmed.ncbi.nlm.nih.gov/40371305/). *SAGE open medical case reports*. [Case Report / Case Series]
Tang H (2025). [PMID: 40419394](https://pubmed.ncbi.nlm.nih.gov/40419394/). *Asia Pacific journal of clinical nutrition*. [Basic Science / Preclinical]