Related Experiment Video
Updated: Jun 7, 2025
A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
Published on: September 20, 2018
Acrodermatitis Enteropathica: A Case Report Involving a Delayed Diagnosis
Ethar A Alsulami1, Manar S Alghamdi1, Abdulrahman E Alraddadi1
1College of Medicine, Umm Al Qura University, Makkah, SAU.
Insights
Acrodermatitis enteropathica (AE), a zinc metabolism disorder, caused skin lesions in an infant. Prompt zinc sulfate treatment resolved the psoriasiform-eczematous rash, highlighting the importance of diagnosing this rare genetic condition.
Area of Science:
- Pediatric Dermatology
- Medical Genetics
- Nutritional Disorders
Background:
- Acrodermatitis enteropathica (AE) is an inherited autosomal recessive disorder stemming from impaired zinc metabolism, resulting in zinc deficiency.
- Early diagnosis and treatment are crucial for managing AE, a condition that can present with diverse dermatological manifestations.
Observation:
- A two-year-old female infant presented with psoriasiform-eczematous skin lesions on extremities post-weaning.
- The patient experienced a year-long misdiagnosis of tinea corporis and subsequent ineffective treatment with antifungals, followed by several months of misdiagnosis as psoriasis treated with corticosteroids.
Findings:
- Clinical examination revealed scaly, erythematous plaques with annular configurations on all four extremities.
- Laboratory tests confirmed low serum zinc levels (49.10 ug/dL; normal range: 60-110 ug/dL).
- Diagnosis of Acrodermatitis enteropathica was established based on clinical and laboratory findings.
Implications:
- Treatment with zinc sulfate syrup (13 mg/kg/day) led to complete resolution of skin lesions within two weeks.
- This case underscores the importance of considering AE in infants with persistent, unexplained eczematous or psoriasiform acral lesions.
- Timely diagnosis and zinc supplementation can effectively manage Acrodermatitis enteropathica, preventing long-term complications.
Abstract:
Acrodermatitis enteropathica (AE) is a hereditary autosomal recessive disorder caused by a defect in zinc metabolism, leading to a zinc deficiency. We report a case of a two-year-old female infant who presented with psoriasiform-eczematous skin lesions with acral distribution in all four extremities one month after weaning from breast milk at five months old. The patient had no history of diarrhea or hair loss and had been misdiagnosed with tinea corporis and treated with topical and systemic antifungals for a year without benefit. She had also been misdiagnosed as having psoriasis and treated with corticosteroid-calcipotriene for several months without benefit. A skin examination revealed multiple well-defined patches of scaly erythematous plaque on all four extremities, and some of the lesions displayed an annular configuration. The laboratory investigation revealed a low serum zinc level (49.10 ug/dL; normal range: 60-110 ug/dL). Based on the clinicopathological findings, the patient was diagnosed with AE. She was started on 13 mg/kg of zinc sulfate syrup divided into two doses. All skin lesions completely disappeared after two weeks of zinc treatment.
Related Concept Videos
01:30Inflammatory Bowel Disease II: Crohn's Disease
Inflammatory bowel disease, commonly known as IBD, refers to a collection of disorders that lead to persistent inflammation of the gastrointestinal tract. The two types of IBD are ulcerative colitis, which impacts the colon, and Crohn's disease, which can involve any part of the gastrointestinal segment.
Crohn's disease
Crohn's disease is a chronic, systemic inflammatory bowel disease (IBD) that predominantly affects the gastrointestinal tract. It is marked by...
01:30Acute Pancreatitis II: Clinical Manifestations and Management
01:17Chronic Bowel Disorders: Introduction
Irritable Bowel Syndrome (IBS) is a common disorder affecting the gastrointestinal tract. The distinctive feature is recurrent abdominal pain associated with altered bowel movements, manifesting as constipation, diarrhea, or fluctuating between both. The...
01:29Chronic Pancreatitis II: Collaborative Care
Assessment:
01:24Chronic Pancreatitis I: Introduction
Pancreatitis is the inflammation of the pancreas, which occurs when the immune system becomes active and causes swelling, pain, and disruptions in organ function. Pancreatitis can manifest as either an acute or chronic condition.
Acute pancreatitis arises suddenly and lasts for a brief duration, while chronic pancreatitis is a long-term affliction...
01:30Inflammatory Bowel Disease III: Diagnostic Studies and Management I-Nutritional Therapy
Diagnostic studies
A colonoscopy is the definitive screening test, distinguishing ulcerative colitis from other colon diseases with similar symptoms. During a colonoscopy test, inflamed mucosa with exudate ulcerations can be observed, and biopsies are taken to determine the histologic characteristics of the...