Alwadany Muhannad M, Al Wadani Abdullah F, Almarri Fatimah H, Alyami Hadi S, Al-Subaie Muhammad A
General Practice, King Faisal University, Hofuf, SAU.
Dermatology, King Fahd Hospital of the University, Khobar, SAU.
Cureus. 2023 Apr 18;15(4):e37783. doi: 10.7759/cureus.37783. eCollection 2023 Apr.
Acrodermatitis enteropathica is a rare genetic disorder caused by a defect in intestinal zinc absorption, resulting in zinc deficiency and various clinical manifestations, including dermatitis, diarrhea, alopecia, and nail abnormalities. Here we present the case of a 10-year-old male child with diarrhea, and abdominal pain for several months who was diagnosed with acrodermatitis enteropathica confirmed by low serum zinc levels. The child had multiple erythematous, scaly, and crusted lesions on the hands and elbows, which resolved after starting oral zinc sulfate supplementation (10 mg/kg/day) in three divided doses. The patient's serum zinc levels normalized (1.0 µg/mL), and the skin lesions completely resolved after six months of follow-up with a regular zinc-rich diet and gradual reduction of zinc sulfate dosage to a maintenance level (2-4 mg/kg/day). This case report emphasizes the importance of timely diagnosis and treatment of acrodermatitis enteropathica to prevent the harmful consequences of zinc deficiency and highlights the need for healthcare providers to consider this disorder in children presenting with skin lesions and diarrhea, particularly those with a positive family history or consanguinity.
肠病性肢端皮炎是一种罕见的遗传性疾病，由肠道锌吸收缺陷引起，导致锌缺乏及各种临床表现，包括皮炎、腹泻、脱发和指甲异常。在此，我们报告一例10岁男性儿童病例，该患儿腹泻、腹痛数月，血清锌水平降低确诊为肠病性肢端皮炎。患儿双手和肘部有多处红斑、鳞屑和结痂性皮损，开始口服硫酸锌补充剂（10mg/kg/天，分三次服用）后皮损消退。患者血清锌水平恢复正常（1.0μg/mL），在采用富含锌的常规饮食并将硫酸锌剂量逐渐减至维持水平（2-4mg/kg/天）随访6个月后，皮肤病变完全消退。本病例报告强调了及时诊断和治疗肠病性肢端皮炎以预防锌缺乏有害后果的重要性，并突出了医疗保健人员对于出现皮肤病变和腹泻的儿童，尤其是有家族史阳性或近亲结婚史的儿童，考虑这种疾病的必要性。
