Acrodermatitis enteropathica. II. Zinc deficiency and ultrastructural findings

Area of Science:

• Biochemistry
• Genetics
• Dermatology

Background:

• Acrodermatitis enteropathica (A.E.) is a genetic disorder characterized by zinc malabsorption.
• Previous treatments with oxyquinolines showed limited and inconsistent clinical success.

Purpose of the Study:

• To investigate the efficacy of zinc sulfate in treating acrodermatitis enteropathica.
• To examine the ultrastructural changes in intestinal Paneth cells in relation to zinc deficiency and treatment.

Main Methods:

• Case report of two siblings with A.E.
• Treatment with oral zinc sulfate (110-220 mg daily).
• Monitoring of clinical symptoms, serum zinc levels, and intestinal Paneth cell morphology.

Main Results:

• Zinc sulfate therapy achieved permanent clinical remission and normalized serum zinc levels.
• Ultrastructural changes in intestinal Paneth cells were reversed following zinc therapy.
• Correlation between hair zinc concentration and therapy type was weak.

Conclusions:

• Zinc malabsorption is the primary defect in A.E.
• Oral zinc sulfate is a highly effective treatment for A.E.
• Intestinal Paneth cell changes are a consequence, not the cause, of zinc deficiency in A.E.