Acrodermatitis Enteropathica

Abstract

Acrodermatitis enteropathica is a rare genetic autosomal recessive disorder, characterized by periorificial dermatitis, alopecia, and diarrhea. It is caused by mutations in the gene that encodes a membrane protein that binds zinc. We report a 14-month-old boy, admitted for erythematous, scaly and pustular lesions, initially located in the inguinal and perianal regions and on thighs, and very few erythematous lesions on the face. Due to the numerous bacterial skin superinfections with Staphylococcus aureus, including abscesses that required surgical incision, the clinical picture was modified, leading to a delayed establishment of the diagnosis. Later, the symptoms became suggestive for this disease, the diagnostic having been confirmed by low plasma zinc values. Under zinc therapy, skin lesions improved significantly in a few days, with favorable outcome. Two months later, the skin lesions almost disappeared.Abscesses due to bacterial skin superinfections may lead to initially misdiagnosed acrodermatitis enteropathica.

Acquired Acrodermatitis Enteropathica and Hirschsprung's Disease

“…AE ayırıcı tanıda; psöriyazis, atopik dermatit, seboreik dermatit, kontakt dermatit, kandidal deri enfeksiyonu, Langerhans hücreli histiyositoz ile karışabilmektedir. 6 Kalıtsal AE'nin tedavisinde oral veya parenteral çinko yer almaktadır. Günlük 3-5 mg/kg dozunda oral çinko tedavisi ile genellikle ilk 24 saat içinde diyare, bir-iki hafta içinde ise cilt bulgularında gerileme izlenmektedir.…”

Alopecia universalis‐like hair loss in acrodermatitis enteropathica

“…Zinc is a trace element essential for many biological pathways and enzymatic processes. It is tightly regulated by zinc transporters, which are transmembrane proteins primarily found in the duodenum, jejunum and nephron 1,2 . There are two types of zinc transporters, ZnT and Zip, which are involved in zinc efflux and influx, and have competing roles in zinc homeostasis 1–4 .…”

“…It is tightly regulated by zinc transporters, which are transmembrane proteins primarily found in the duodenum, jejunum and nephron 1,2 . There are two types of zinc transporters, ZnT and Zip, which are involved in zinc efflux and influx, and have competing roles in zinc homeostasis 1–4 . Zinc absorption primarily occurs in the jejunum via the Zip4 transporter 1–3 …”

“…The clinical presentations of both acquired and inherited zinc deficiency are similar, with a characteristic triad of dermatitis, alopecia and gastrointestinal dysfunction. Skin disease is variable, and the main features include symmetrical erythematous, eczematous lesions around the periorificial regions and extremities, which may progress to become vesiculobullous, pustular and erosive if left untreated 1,2 . The clinical triad is thought to be complete in only 20% of patients with AE 2 .…”

An Acrodermatitis Enteropathica Case

“…Gen düzenleyici proteinlerin önemli bir yapısal bileşenidir ve regülasyonda fonksiyona sahiptir. Sonuç olarak ağır çinko eksikliğinde birden fazla belirti ve semptom oluşur (2). Hastalık karakteristik olarak periorifisyal ve akral alanlarda egzematize, psoriasiform, püstüler, büllöz kutanöz lezyonlar ile beraber kronik diyare, paronişi, alopesi ve gelişme geriliği ile seyreder.…”