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Acrodermatitis enteropathica: recent findings concerning clinical features, pathogenesis, diagnosis and therapy
Insights
Acrodermatitis enteropathica (AE), a genetic zinc deficiency disorder, was diagnosed in two siblings. Zinc sulfate (ZnSO4) treatment normalized zinc levels and improved clinical symptoms, confirming AE
Area of Science:
- Genetics
- Pediatrics
- Dermatology
Background:
- Acrodermatitis enteropathica (AE) is a rare genetic disorder characterized by zinc malabsorption.
- Clinical manifestations include skin lesions, gastrointestinal issues, and immune dysfunction.
- Early diagnosis and treatment are crucial for managing AE.
Purpose of the Study:
- To report a case of acrodermatitis enteropathica (AE) in two siblings.
- To investigate the clinical and biochemical features of AE.
- To evaluate the efficacy of zinc sulfate (ZnSO4) treatment.
Main Methods:
- Clinical assessment of two siblings diagnosed with AE.
- Serum zinc and fatty acid levels were measured.
- Jejunal biopsies were examined histologically and ultrastructurally.
Main Results:
- Both siblings presented with characteristic AE symptoms and significantly low serum zinc levels.
- One patient showed altered serum fatty acid levels during exacerbation.
- Zinc sulfate (ZnSO4) supplementation led to clinical improvement and normalized serum zinc levels.
- Histological examination revealed non-specific enterocyte changes and Paneth cell abnormalities.
Conclusions:
- This case study highlights the importance of recognizing AE symptoms in pediatric patients.
- Serum zinc levels are a key diagnostic marker for AE.
- Zinc supplementation is an effective treatment for acrodermatitis enteropathica (AE).
Abstract:
Acrodermatitis enteropathica (AE) was diagnosed in 2 siblings, boy and girl, at the age of 10 and 6 weeks. The family history is unremarkable except for consanguinity 5 generations previously. The clinical symptoms of the 2 patients conformed to the known features of AE, the gastrointestinal involvement loosing its significance with increasing age. In one patient in a stage of exacerbation the serum level of oleic acid (18:1) was lowered and of linoleic (18:2) acid slightly increased while that of arachidonic acid was decreased (Fig. 4). In both patients the serum zinc levels were significantly lowered. Under substitution with ZnSO4 the clinical condition improved and the serum zinc levels returned to normal. Histologically the small bowel mucosa was practically normal. Ultrastructural examination of jejunal biopsies revealed rather unspecific changes in the enterocytes in the form of numerous multivesicular bodies. The Paneth cells sometimes contained irregularly formed inhomogeneous structures within their cytoplasm. In addition the secretory granules varied in size and displayed a granular heteromorphic matrix. Frequently they were confluent and formed giant granules.