Adult autoimmune enteropathy presenting initially with acquired Acrodermatitis Enteropathica: a case report

Acrodermatitis enteropathica (AE) is a rare dermatitis secondary to zinc deficiency most commonly seen as an inherited disease in infants. In the last decade, increased number of reports have been published on the acquired form that presents in adulthood. Unlike its inherited counterpart, acquired AE (AAE) is often secondary to underlying pathologic or iatrogenic etiologies that interfere with nutritional absorption, such as inflammatory bowel disease or alcoholism. Various gastrointestinal pathologies have been associated with AAE, but there is currently no report on its association with adult autoimmune enteropathy (AIE), a rare gastrointestinal disorder commonly seen in infants, with limited cases reported in adults. Here we present a case in which AAE was the initial clinical manifestation in an adult patient subsequently diagnosed with AIE.

A 41-year-old African American female presented to our emergency department at the Johns Hopkins Hospital with several months of progressively worsening dermatitis in the legs and acral regions, along with worsening symptoms of diarrhea, alopecia, poor oral intake, lethargy, hematochezia, peripheral edema, and weight loss. Our dermatology team was consulted given a presentation of exquisitely tender, erythematous, and diffusely desquamating skin lesions in the setting of two prior outside hospitalizations in the last 3 months with the same dermatitis that was refractory to topical and oral corticosteroids. Low serum zinc level and positive response to zinc supplementation confirmed the diagnosis of AAE. However, persistent hypovitaminosis and mineral deficiency despite aggressive nutritional supplementation prompted further investigation for an underlying malabsorption etiology. Jejunal biopsy and associated autoantibodies confirmed a diagnosis of adult AIE.

This case highlights the fact that adult AIE can present initially with clinical findings of AE. While proper zinc supplementation can resolve the latter, recognizing this association can trigger earlier diagnosis, minimize unnecessary tests, and establish earlier intervention to improve quality of life and prevent recurrence of AAE. The case also highlights the importance of collaboration between general and subspecialist physicians in identifying a primary etiology to a secondary clinical presentation. This report can be beneficial to general internists and emergency physicians, as much as it can be to dermatologists, rheumatologists, and gastroenterologists.