Variants of SLC39A4 cause acrodermatitis enteropathica in Tibetan, Yi and Han families in Sichuan region of southwestern China: a case report series Provisionally Accepted
Zhongtao Li
Sheng Wang- 1Department of Dermatology, West China Hospital, Sichuan University, China
Acrodermatitis enteropathica (AE, OMIM 201100) is a rare autosomal recessive dermatosis characterized by periorificial dermatitis, diarrhoea, alopecia and hypozincaemia due to pathogenic variants of SLC39A4. Herein, we present a case series describing four unrelated patients with AE from Han, Yi and Tibetan ethnicities in Sichuan region of southwestern China, speculate the hotspot variants of SLC39A4 causing AE in Sichuan region and highlight physicians should be alerted to unusual presentations of AE, such as the absence of hypozincaemia and the presence of acne-like lesions. Serum alkaline phosphatase and genetic testing should be considered to accurately evaluate the zinc deficiency in human body and help make the correct diagnosis.
Keywords: acrodermatitis enteropathica, Normal serum zinc, Pustule, Tibetan, SLC39A4
Received: 12 Mar 2024;
Accepted: 01 May 2024.
Copyright: © 2024 Li and Wang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Prof. Sheng Wang, West China Hospital, Sichuan University, Department of Dermatology, Chengdu, China