Acrodermatitis enteropathica (zinc deficiency)

Synonyms: Zinkmangel

By Dr. Pascal Bafteh · last updated 09/2026

Definition and Genetics

Acrodermatitis enteropathica is an autosomal recessive inherited disorder of zinc transport, caused by mutations in the SLC39A4 gene (ZIP4 zinc transporter), leading to reduced intestinal zinc absorption.

Pathophysiology

Zinc is essential for the stability of cell membranes and function of numerous enzymes and acts as a cofactor in processes such as cell proliferation, differentiation, and wound healing. A deficiency leads to disturbances in epithelial integrity and immune function.

Clinical Features

Typical features are vesiculopustular and eczematous dermatitis with pluriorificial (perioral, perianal, genital) and acral distribution, combined with diarrhea and alopecia. Further symptoms may include growth retardation, susceptibility to infections, and paronychia.

Diagnostics

Diagnosis is based on clinical features and laboratory findings with decreased serum zinc level (< 70 μg/dl) and, if applicable, genetic confirmation. Differential diagnoses include essential fatty acid deficiency states, atopic dermatitis, and periorificial dermatoses.

Differential diagnoses

• Atopic dermatitis (atopic eczema)
• Dyshidrotic hand eczema (pompholyx)
• Palmoplantar psoriasis
• Ecthyma
• Pyoderma gangrenosum
• Psoriasis inversa
• Candida intertrigo
• Erythrasma

Sources (selection)

1. Lehnert et al. 2006
2. Prasad et al. 2009
3. Maverakis et al. 2007
4. Plum et al. 2010

More metabolic skin disorders

• Necrobiosis lipoidica
• Necrolytic migratory erythema
• Pseudo-porphyria cutanea tarda

Note: This page is intended for medical education and does not replace diagnosis or treatment decisions in individual cases. Treatment and follow-up content is available in the app.