Azemi Mehmedali, Berisha Majlinda, Kolgeci Selim, Avdiu Muharrem, Hoxha-Kamberi Teuta, Daka Afërdita
Paediatrics Clinic, University Clinic Centre of Kosovo, Prishtina, Kosovo.
Med Arh. 2012;66(2):137-9. doi: 10.5455/medarh.2012.66.137-139.
The aim of the work was the presentation of one case with Acrodermatitis enteropathica.
Acrodermatitis enteropathica is diagnosed based on the pedigree, typical clinical manifestations on the skin, laboratory results, small bowel biopsy, skin biopsy and kariotype.
The patient was a two years old male toddler, hospitalized due to skin changes, chronic diarrhoea and total alopecia. Skin changes appeared on akral of the limbs, inguinal and perineal region, joints, perioral area and eyes. These changes appeared in different forms (erythematous, squamous, eczematiod, psoriasisforme and crusted). In the eyes were present these changes: blepharitis and conjunctivitis. Also total alopecia was prezent. Diarrhoea was chronic and specific. Laboratory findings showed the existence of sideropenic anemia, hypoproteinemia with hypoalbuminemia and low plasma zinc concentration (7.5 micromol/L). Hystopathological changes on the small bowel and skin biopsy were not typical for this disease. Following the beginning of treatment with zinc sulphate, all clinical skin manifestations disappeared within two months, but the disease itself was characterized with the periods of exarcerbation and remission.
Acrodermatitis Enteropathica is a rare hereditary autosomal recessive disease. Mandatory clinical manifestations are: skin changes, chronic diarrhoea and alopecia. Treatment with zinc is obligatory for the life time.
本研究旨在介绍1例肠病性肢端皮炎病例。
根据家系、典型的皮肤临床表现、实验室检查结果、小肠活检、皮肤活检和核型分析诊断肠病性肢端皮炎。
患者为一名2岁男童，因皮肤改变、慢性腹泻和全秃入院。皮肤改变出现在四肢末端、腹股沟和会阴区、关节、口周和眼部。这些改变表现为不同形式（红斑、鳞屑、湿疹样、银屑病样和结痂）。眼部出现睑缘炎和结膜炎。同时存在全秃。腹泻为慢性且具有特异性。实验室检查结果显示存在缺铁性贫血、低蛋白血症伴低白蛋白血症以及低血浆锌浓度（7.5微摩尔/升）。小肠和皮肤活检的组织病理学改变并非该病的典型表现。硫酸锌治疗开始后，所有临床皮肤表现于两个月内消失，但该病本身具有病情加重期和缓解期。
肠病性肢端皮炎是一种罕见的常染色体隐性遗传性疾病。其必备的临床表现为：皮肤改变、慢性腹泻和脱发。终身进行锌治疗是必要的。
