IPEX with congenital ichthyosiform skin lesions:a case report and literature review

VernacularTitle:先天性鱼鳞病样皮肤病变IPEX 1例报告并文献复习
Author: Tingyan HE ; Yu XIA ; Fangfang LIANG ; Ying LUO ; Shilei JIA ; Jun YANG
Keywords: X-linked syndrome; immune dysregulation; regulatory T cells; immunodeficiency
From: Journal of Clinical Pediatrics 2017;35(8):620-624
CountryChina
Language:Chinese
Abstract: Objective To explore the clinical phenotype, treatment and prognosis of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome, and to improve pediatricians' knowledge of this disease. Methods Clinical data of a case of IPEX with congenital ichthyosiform skin lesions were retrospectively analyzed, and related literatures China were reviewed. Results The 2-month-11-day old boy came to our hospital due to ichthyosiform skin lesions accompanied by blood oozing in the head and feet exudatation, with severe sepsis and gastrointestinal perforation. He was died of multiple organ failure. DNA sequencing of whole-genome exon group showed a hemizygous mutation of c.1150G> A, p.A384> T in FOXP3 gene. His mother was a heterozygous mutation carrier, while his father was normal. Conclusions In addition to typical symptoms including early-onset refractory diarrhea, multiple endocrine disease and growth retardation, IPEX should be considered also in infants with ichthyosiform rash and severe infection. Gene sequencing will help diagnose the disease.