Lie Erina, Sung Sarah, Yang Steven Hoseong
Department of Dermatology, Johns Hopkins University School of Medicine, 200 North Wolfe Street, Unit 2106, Baltimore, MD, 21287, USA.
Department of Dermatology, Johns Hopkins University School of Medicine, 1550 Orleans Street, Koch CRB II, Unit 206, Baltimore, MD, 21231, USA.
BMC Dermatol. 2017 May 18;17(1):7. doi: 10.1186/s12895-017-0059-4.
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.
肠病性肢端皮炎（AE）是一种继发于锌缺乏的罕见皮炎，最常见于婴儿期的遗传性疾病。在过去十年中，关于成年期出现的获得性形式的报道有所增加。与遗传性AE不同，获得性AE（AAE）通常继发于潜在的病理或医源性病因，这些病因会干扰营养吸收，如炎症性肠病或酒精中毒。各种胃肠道疾病都与AAE有关，但目前尚无关于其与成人自身免疫性肠病（AIE）相关性的报道，AIE是一种罕见的胃肠道疾病，常见于婴儿期，成人病例报道有限。在此，我们报告一例成年患者，最初临床表现为AAE，随后被诊断为AIE。
一名41岁非裔美国女性因腿部和肢端数月来逐渐加重的皮炎，以及腹泻、脱发、食欲不振、嗜睡、便血、外周水肿和体重减轻等症状加重，就诊于约翰霍普金斯医院急诊科。鉴于患者在过去3个月内曾因同样的皮炎在外院住院两次，外用和口服糖皮质激素治疗无效，皮肤科团队会诊。血清锌水平低且补锌治疗反应阳性，确诊为AAE。然而，尽管积极补充营养，仍持续存在维生素缺乏和矿物质缺乏，促使进一步调查潜在的吸收不良病因。空肠活检及相关自身抗体确诊为成人AIE。
本病例强调了成人AIE最初可表现为AE的临床症状这一事实。虽然适当补充锌可缓解AE症状，但认识到这种关联可促使早期诊断，减少不必要的检查，并尽早进行干预，以改善生活质量并预防AAE复发。该病例还强调了普通内科医生和专科医生合作在确定继发临床表现的主要病因方面的重要性。本报告对普通内科医生和急诊科医生以及皮肤科医生、风湿病学家和胃肠病学家都可能有益。
