11岁女孩反复全身散在皮疹10年

Recurrent systemic sporadic rash for 10 years in a girl aged 11 years

摘要:

女性患儿，11岁，因反复全身及黏膜部位皮疹10年入院，典型皮疹为口周、手足关节、外阴、肛周处红斑，红斑上可见水疱、糜烂、溃疡，补锌治疗后好转，其弟弟有类似的皮疹及病史。皮肤组织病理学检查可见表皮角化不全伴轻度角化过度，角质层重度海绵状水肿，棘细胞明显增生，角质形成细胞空泡化。基因检测提示患儿及其弟弟SLC39A4基因均存在c.1456(exon9)delG致病性纯合突变，诊断为肠病性肢端皮炎。对于反复出现四肢及腔口周围皮疹，且治疗反复的患儿，应尽早完善基因检测以明确诊断，同时予以足剂量的补锌治疗，定期检测血清锌等微量元素的水平。 ［中国当代儿科杂志，2022，24（9）：1047-1052］

Abstract:

A girl, aged 11 years, was admitted due to recurrent rash on the whole body and mucosa for 10 years, and typical rash was erythema at the perioral region, hand-foot joints, vulva, and perianal region, with blisters, erosions, and ulcers on the erythema. The girl was improved after zinc supplementation. Her younger brother had similar rash and medical history. The histopathological examination showed epidermal parakeratosis with mild hyperkeratosis, severe spongiform edema of the stratum corneum, significant proliferation of acanthocytes, and vacuolation of keratinocytes. The genetic testing revealed that both the girl and her younger brother had a homozygous mutation of c.1456(exon9)delG in the SLC39A4 gene, and thus the girl was diagnosed with acrodermatitis enteropathica. It is concluded that for children with recurrent rash on the limbs and at the perioral region, genetic testing should be performed as early as possible to make a confirmed diagnosis, and a sufficient dose of zinc supplementation should be given, while the levels of trace elements such as blood zinc should be regularly monitored. Citation:Chinese Journal of Contemporary Pediatrics, 2022, 24(9): 1047-1052