Al Rashed Abdullatif, Al Shehri Mohja, Kaliyadan Feroze
Department of Dermatology, College of Medicine, King Faisal University, Al-Ahsa, Saudi Arabia.
Amrita Institute of Medical Sciences, Kochi, Kerala, India.
J Dermatol Case Rep. 2016 Dec 31;10(4):65-67. doi: 10.3315/jdcr.2016.1238.
Acrodermatitis enteropathica (AE) is a rare autosomal recessive metabolic disorder. First described by Brandt in 1936 and was named by Danbolt. A mutation in the SLC39A4 gene on chromosome 8 q24.3 is responsible for this disorder, which encodes zinc transporter Zip4. The diagnosis is made by the clinical presentation and histopathology and laboratory tests. In this case, we reported a twin presented with a typical rash and low zinc level. To our knowledge, very few cases reported as a twin with typical acrodermatitis enteropathica presentation.
Four months old twins both females, first children of a non-consanguineous marriage. The twins were born at term, caesarian section, with no complications. Presented with erythema, scaling, crusting and oozing over perioral, perianal areas, hands and feet of 2-3 week duration. The lesions started around the same time for both children with a history of intermittent diarrhea, and hair loss. There were no nail changes or neurological deficit or myopathy. There was a history of recent weaning from breast milk and now both children on formula feeds, ragi, fruits. There was no other significant history of other medical problems in the patients or in their family. On examination, erythema, scaling, crusting and oozing over perioral, perianal areas, hands and feet was seen. Minimal diffuse alopecia was noted. Nails were normal. No other abnormalities were observed. Clinical diagnosis of acrodermatitis enteropathica was considered and confirmed by low zinc levels (repeated plasma zinc levels were below 0.6 mcg/ml). The twins were managed with zinc supplementation 1 mg/kg/day. A significant improvement was seen within two weeks.
Early diagnosis of acrodermatitis enteropathica is essential for preventing complications. We report a rare case of typical clinical presentation of the disease developing simultaneously in twins.
肠病性肢端皮炎（AE）是一种罕见的常染色体隐性代谢紊乱疾病。1936年由布兰特首次描述，后由丹博尔特命名。8号染色体q24.3上的SLC39A4基因突变是导致该疾病的原因，该基因编码锌转运蛋白Zip4。诊断依据临床表现、组织病理学和实验室检查。在此病例中，我们报告了一对双胞胎出现典型皮疹和低锌水平。据我们所知，很少有病例报道为具有典型肠病性肢端皮炎表现的双胞胎。
4个月大的双胞胎均为女性，是一对非近亲结婚夫妇的头胎孩子。双胞胎足月出生，剖宫产，无并发症。出现红斑、脱屑、结痂和渗出，累及口周、肛周、手部和足部，病程2 - 3周。两个孩子的皮损大约同时出现，有间歇性腹泻和脱发史。无指甲改变、神经功能缺损或肌病。近期有从母乳喂养断奶的病史，现在两个孩子均以配方奶、拉吉（一种印度粗粮）、水果喂养。患者及其家族无其他重大疾病史。检查发现，口周、肛周、手部和足部有红斑、脱屑、结痂和渗出。有轻微弥漫性脱发。指甲正常。未观察到其他异常。考虑为肠病性肢端皮炎临床诊断，并通过低锌水平（多次血浆锌水平低于0.6微克/毫升）得以证实。双胞胎接受每日1毫克/千克的锌补充治疗。两周内病情有显著改善。
肠病性肢端皮炎的早期诊断对于预防并发症至关重要。我们报告了一例罕见病例，该疾病的典型临床表现同时出现在双胞胎中。
