Samady J A, Schwartz R A, Shih L Y, Piela Z, Lambert W C, Janniger C K
Dermatology, Pediatrics, Pathology, UMDNJ-New Jersey Medical School, Newark 07103-2714, USA.
J Dermatol. 2000 Sep;27(9):604-8. doi: 10.1111/j.1346-8138.2000.tb02236.x.
Acrodermatitis enteropathica is a rare inherited disorder characterized by zinc deficiency and a triad of dermatitis, diarrhea, and alopecia. It is an autosomal recessive condition thought to be due to the inability to absorb zinc from the gastrointestinal tract. Acquired zinc deficiency due to a variety of etiologies may produce a similar clinical picture. These causes include inadequate supply, malabsorption, and low zinc stores. In addition to zinc, deficiencies of other nutrients such as branched chain amino acids have induced an acrodermatitis enteropathica-like eruption. We describe a case of a 26-month-old boy with a rare inborn error of metabolism known as nonketotic hyperglycinemia who developed an acrodermatitis enteropathica-like eruption. In addition to zinc deficiency, the patient was deficient in branched chain amino acids due to a low protein diet instituted to reduce his elevated glycine levels. The rash did not respond to zinc replacement alone, and therefore is most likely a combination of amino acid and zinc deficiency. Acrodermatitis enteropathica-like eruptions have been described in other conditions that cause decreased serum amino acids, such as maple syrup urine disease and organic acidurias. This is the first case describing an association between acrodermatitis enteropathica and nonketotic hyperglycinemia.
肠病性肢端皮炎是一种罕见的遗传性疾病，其特征为锌缺乏以及皮炎、腹泻和脱发三联征。它是一种常染色体隐性疾病，被认为是由于无法从胃肠道吸收锌所致。由多种病因引起的后天性锌缺乏可能会产生类似的临床表现。这些病因包括供应不足、吸收不良和锌储备低。除锌外，其他营养素如支链氨基酸的缺乏也可引发类似肠病性肢端皮炎的皮疹。我们描述了一例26个月大的男孩，患有罕见的先天性代谢缺陷，即非酮症高甘氨酸血症，他出现了类似肠病性肢端皮炎的皮疹。除锌缺乏外，由于为降低其升高的甘氨酸水平而采用低蛋白饮食，该患者还缺乏支链氨基酸。皮疹单独补充锌后无反应，因此很可能是氨基酸和锌缺乏共同导致的。在其他导致血清氨基酸降低的疾病中，如枫糖尿症和有机酸尿症，也有类似肠病性肢端皮炎皮疹的描述。这是第一例描述肠病性肢端皮炎与非酮症高甘氨酸血症之间关联的病例。
